1p36 Deletion Syndrome

Acute Leukemia

Adrenal Cancer – with distant metastases or inoperable, unresectable or recurrent

Adult Heart Transplant Wait List – Status Levels 1-4

Adult Non-Hodgkin Lymphoma

Adult Onset Huntington Disease

Aicardi-Goutieres Syndrome

Alexander Disease (ALX) – Neonatal and Infantile

Allan-Herndon-Dudley Syndrome

Alobar Holoprosencephaly

Alpers Disease

Alpha Mannosidosis – Types II and III

ALS/Parkinsonism Dementia Complex

Alstrom Syndrome

Alveolar Soft Part Sarcoma

Amegakaryocytic Thrombocytopenia

Amyotrophic Lateral Sclerosis (ALS) - Adult

Anaplastic Adrenal Cancer – Adult with distant metastases or inoperable, unresectable or recurrent

Anaplastic Ependymoma

Anaplastic Thyroid Cancer

Angelman Syndrome

Angioimmunoblastic T-Cell Lymphoma

Angiosarcoma

Aortic Atresia

Aplastic Anemia

Astrocytoma – Grade III and IV

Ataxia Telangiectasia

Atypical Teratoid/Rhabdoid Tumor

Au-Kline Syndrome

Bainbridge-Ropers Syndrome

Batten Disease

Beta Thalassemia Major

Bilateral Anophthalmia

Bilateral Optic Atrophy – Infantile

Bilateral Retinoblastoma

Bladder Cancer – with distant metastases or inoperable or unresectable

Blastic Plasmacytoid Dendritic Cell Neoplasm

Breast Cancer – with distant metastases or recurrent

CACH – Vanishing White Matter Disease – Congenital, Infantile, and Early Childhood Onset Forms

Calciphylaxis

Canavan Disease (CD)

Carcinoma of Unknown Primary Site

Cardiac Amyloidosis – AL Type

Carey-Fineman-Ziter Syndrome

Caudal Regression Syndrome – Types III and IV

CDKL5 Deficiency Disorder

Cerebro Oculo Facio Skeletal (COFS) Syndrome

Cerebrotendinous Xanthomatosis

Charlevoix-Saguenay Spastic Ataxia

Child Heart Transplant Wait List – Status Levels 1A/1B

Child Lymphoblastic Lymphoma

Child Lymphoma

Child Medulloblastoma

Child Neuroblastoma – with distant metastases or recurrent

Cholangiocarcinoma

Chondrosarcoma – with multimodal therapy

Choroid Plexus Carcinoma

Chronic Idiopathic Intestinal Pseudo Obstruction

Chronic Myelogenous Leukemia (CML) – Blast Phase

CIC-rearranged Sarcoma

Coffin-Lowry Syndrome

Congenital Lymphedema

Congenital Myotonic Dystrophy

Congenital Zika Syndrome

Cornelia de Lange Syndrome – Classic Form

Corticobasal Degeneration

Costello Syndrome

Creutzfeldt-Jakob Disease (CJD) – Adult

Cri du Chat Syndrome

Degos Disease – Systemic

De Sanctis Cacchione Syndrome

Desmoplastic Mesothelioma

Desmoplastic Small Round Cell Tumors

Dravet Syndrome

Duchenne Muscular Dystrophy – Adult

Early-Onset Alzheimer’s Disease

Edwards Syndrome (Trisomy 18)

Eisenmenger Syndrome

Endometrial Stromal Sarcoma

Endomyocardial Fibrosis

Ependymoblastoma (Child Brain Cancer)

Erdheim Chester Disease

Esophageal Cancer

Esthesioneuroblastoma

Ewing Sarcoma

Farber Disease (FD) – Infantile

Fatal Familial Insomnia

Fibrodysplasia Ossificans Progressiva

Fibrolamellar Cancer

Follicular Dendritic Cell Sarcoma – metastatic or recurrent

FOXG1 Syndrome

Friedreich's Ataxia (FRDA)

Frontotemporal Dementia (FTD), Pick's Disease – Type A – Adult

Fryns Syndrome

Fucosidosis – Type I

Fukuyama Congenital Muscular Dystrophy

Fulminant Giant Cell Myocarditis

Galactosialidosis – Early and Late Infantile Types

Gallbladder Cancer

Gaucher Disease (GD) – Type 2

Gerstmann-Straussler-Scheinker Disease

Giant Axonal Neuropathy

Glioblastoma Multiforme (Adult Brain Cancer)

Glioma – Grade III and IV

Glutaric Acidemia – Type II

GM1 – Gangliodosis – Infantile and Juvenile Forms

Harlequin Ichthyosis – Child

Head and Neck Cancers – with distant metastasis or inoperable or unresectable

Heart Transplant Graft Failure

Hematopoietic Stem Cell Transplantation

Hemophagocytic Lymphohistiocytosis – Familial Type (FHLH)

Hepatoblastoma

Hepatocellular Carcinoma

Hepatopulmonary Syndrome

Hepatorenal Syndrome

Histiocytic Malignancies

Histiocytosis Syndromes

Hoyeraal-Hreidarsson Syndrome

Hutchinson-Gilford Progeria Syndrome

Hydranencephaly

Hypocomplementemic Urticarial Vasculitis Syndrome

Hypophosphatasia – Perinatal (Lethal) and Infantile Onset Types

Hypoplastic Left Heart Syndrome

I Cell Disease

Idiopathic Pulmonary Fibrosis

Infantile Free Sialic Acid Storage Disease

Infantile Neuroaxonal Dystrophy (INAD)

Infantile Neuronal Ceroid Lipofuscinoses

Inflammatory Breast Cancer (IBC)

Intracranial Hemangiopericytoma

Jervell and Lange-Nielsen Syndrome

Joubert Syndrome

Junctional Epidermolysis Bullosa – Lethal Type

Juvenile Onset Huntington Disease

Kidney Cancer – inoperable or unresectable

Kleefstra Syndrome

Krabbe Disease (KD) – Infantile

Kufs Disease – Type A and B

Large Intestine Cancer – with distant metastasis or inoperable, unresectable or recurrent

Late Infantile Neuronal Ceroid Lipofuscinoses

Leber Congenital Amaurosis

Leigh’s Disease

Leiomyosarcoma

Leptomeningeal Carcinomatosis

Lesch-Nyhan Syndrome (LNS)

Lewy Body Dementia

Liposarcoma – metastatic or recurrent

Lissencephaly

LMNA-related Congenital Muscular Dystrophy

Lowe Syndrome

Lymphomatoid Granulomatosis – Grade III

Malignant Brainstem Gliomas – Childhood

Malignant Ectomesenchymoma

Malignant Gastrointestinal Stromal Tumor

Malignant Germ Cell Tumor

Malignant Multiple Sclerosis

Malignant Renal Rhabdoid Tumor

Mantle Cell Lymphoma (MCL)

Maple Syrup Urine Disease

Marshall-Smith Syndrome

Mastocytosis Type IV

MECP2 Duplication Syndrome

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megalencephaly-Capillary Malformation Syndrome

Menkes Disease – Classic or Infantile Onset Form

Merkel Cell Carcinoma – with metastases

Merosin Deficient Congenital Muscular Dystrophy

Metachromatic Leukodystrophy (MLD) – Late Infantile

Metastatic Endometrial Adenocarcinoma

Microvillus Inclusion Disease – Child

Mitral Valve Atresia

Mixed Dementias

Mowat-Wilson Syndrome

MPS I

MPS II

MPS III

Mucosal Malignant Melanoma

Multicentric Castleman Disease

Multiple System Atrophy

Myelodysplastic Syndrome with Excess Blasts

Myocolonic Epilepsy with Ragged Red Fibers Syndrome

Neonatal Adrenoleukodystrophy

Neonatal Marfan Syndrome

Nephrogenic Systemic Fibrosis

Neurodegeneration with Brain Iron Accumulation – Types 1 and 2

NFU-1 Mitochondrial Disease

Nicolaides-Baraitser Syndrome

Niemann-Pick Disease (NPD) – Type A

Niemann-Pick Disease – Type C

Nonketotic Hyperglycinemia

Non-Small Cell Lung Cancer

NUT Carcinoma

Obliterative Bronchiolitis

Ohtahara Syndrome

Oligodendroglioma Brain Cancer – Grade III

Ornithine Transcarbamylase (OTC) Deficiency

Orthochromatic Leukodystrophy with Pigmented Glia

Osteogenesis Imperfecta (OI) – Type II

Osteosarcoma, formerly known as Bone Cancer

Ovarian Cancer – with distant metastases or inoperable or unresectable

PACS1 Syndrome

Pallister-Killian Syndrome

Pancreatic Cancer

Paraneoplastic Cerebellar Degeneration

Paraneoplastic Pemphigus

Patau Syndrome (Trisomy 13)

Pearson Syndrome

Pelizaeus-Merzbacher Disease – Classic Form

Pelizaeus-Merzbacher Disease – Connatal Form

Pericardial Mesothelioma

Peripheral Nerve Cancer – metastatic or recurrent

Peritoneal Mesothelioma

Peritoneal Mucinous Carcinomatosis

Perry Syndrome

Pfeiffer Syndrome – Types II and III

Phelan-McDermid Syndrome

Pineoblastoma – Childhood

Pitt Hopkins Syndrome

Plasmablastic Lymphoma

Pleural Mesothelioma

Pompe Disease – Infantile

Pontocerebellar Hypoplasia

Posterior Cortical Atrophy

Primary Central Nervous System Lymphoma

Primary Effusion Lymphoma

Primary Omental Cancer

Primary Peritoneal Cancer

Primary Progressive Aphasia

Progressive Bulbar Palsy

Progressive Multifocal Leukoencephalopathy

Progressive Muscular Atrophy

Progressive Supranuclear Palsy

Prostate Cancer – Hormone Refractory Disease – or with visceral metastases

Pulmonary Amyloidosis – AL Type

Pulmonary Atresia

Pulmonary Kaposi Sarcoma

Rasmussen Encephalitis

Refractory Hodgkin Lymphoma

Renal Amyloidosis – AL Type

Renal Medullary Carcinoma

Renpenning Syndrome

Retinopathy of Prematurity – Stage V, Bilateral

Rett (RTT) Syndrome

Revesz Syndrome

Rhabdomyosarcoma

Rhizomelic Chondrodysplasia Punctata

Richter Syndrome

Roberts Syndrome

Rubinstein-Taybi Syndrome

Salivary Cancers

Sandhoff Disease

Sarcomatoid Carcinoma of the Lung – Stages II-IV

Sarcomatoid Mesothelioma

Schindler Disease – Type I

SCN8A-related Epilepsy with Encephalopathy

Seckel Syndrome

Secondary Adenocarcinoma of the Brain

Severe Combined Immunodeficiency – Childhood

Single Ventricle

Sinonasal Cancer

Sjogren-Larsson Syndrome

Skin Malignant Melanoma – with metastases

Small Cell Cancer of the Female Genital Tract

Small Cell Cancer of the Large Intestine

Small Cell Cancer of the Ovary

Small Cell Cancer of the Prostate

Small Cell Cancer of the Thymus

Small Cell Lung Cancer

Small Intestine Cancer – with distant metastases or inoperable, unresectable or recurrent

Smith Lemli Opitz Syndrome

Snijders Blok-Campeau Syndrome

Soft Tissue Sarcoma – with distant metastases or recurrent

Spinal Muscular Atrophy (SMA) – Types 0 and 1

Spinal Nerve Root Cancer – metastatic or recurrent

Spinocerebellar Ataxia

Stiff Person Syndrome

Stomach Cancer, with distant metastases or inoperable, unresectable or recurrent

Subacute Sclerosing Panencephalitis

Superficial Siderosis of the Central Nervous System

SYNGAP1-related NSID

Tabes Dorsalis

Tay Sachs Disease, Infantile Type

Taybi-Linder Syndrome

Tetrasomy 18p

Thanatophoric Dysplasia, Type 1

Thymic Carcinoma

Transplant Coronary Artery Vasculopathy

Tricuspid Atresia

Trisomy 9

Turnpenny-Fry Syndrome

Ullrich Congenital Muscular Dystrophy

Ureter Cancer – with distant metastases or inoperable, unresectable or recurrent

Usher Syndrome – Type I

Ventricular Assist Device Recipient – Left, Right, or Biventricular

Walker Warburg Syndrome

WHO Grade III Meningiomas

Wolf-Hirschhorn Syndrome

Wolman Disease

Xeroderma Pigmentosum

X-Linked Lymphoproliferative Disease

X-Linked Myotubular Myopathy

Zellweger Syndrome

ALTERNATE NAMES

Bilateral Eye Agenesis; Clinical Anophthalmia; Complete Bilateral Eye Absence; Congenital Absence of Both Eyes; Congenital Anophthalmia; Congenital Bilateral Anophthalmia; Missing Both Eyeballs; Missing Both Eyes; No Eyes on Both Sides and Severe Microphthalmia

DESCRIPTION

Bilateral anophthalmia is a rare condition characterized by the absence of both eyes in the presence of eyelids, conjunctiva (thin, transparent membranes that line the eyelids and cover the whites of the eye), and lacrimal apparatus (system of glands, ducts, and sacs that produce and drain tears).

The exact cause of bilateral anophthalmia is unknown. Chromosomal duplications, deletions, and translocations are implicated. Mutations in the SOX2 gene has been identified as a major causative gene.

Conditions that may contribute to bilateral anophthalmia include:

• •

  Genetic mutations that occur before the baby is born. These changes may also cause other birth defects;

• •

  Taking certain medications during pregnancy including Accutane, a medicine that treats severe acne, and thalidomide, a medicine that treats certain skin problems and some types of cancer; and

• •

  Prenatal exposure to harmful things in the environment such as x-rays, chemicals, drugs, pesticides, radiation, and viruses.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of bilateral anophthalmia is made by:

• •

  Prenatal ultrasounds;

• •

  Amniocentesis;

• •

  Prenatal tests;

• •

  Physical examination;

• •

  Magnetic resonance imaging (MRI); and

• •

  Computerized tomography (CT) scan.

Physical findings: Signs and symptoms of bilateral anophthalmia include:

• •

  Small eye sockets;

• •

  Short eyelids;

• •

  Blindness;

• •

  Malar prominence (cheek bones that are more prominent than normal); and

• •

  Constricted sockets (narrow eye sockets)

ICD-9: 743.0

ICD-10: Q11.1

PROGRESSION

Bilateral anophthalmia develops during pregnancy and can occur alone, with other birth defects, or as part of a syndrome. Infants born with bilateral anophthalmia are congenitally blind at birth and will remain blind for all their life.

TREATMENT

There is no cure for bilateral anophthalmia. Children with this condition should be frequently monitored by a team of eye specialists. These specialists may include:

• •

  An ophthalmologist, a provider specially trained to care for eyes;

• •

  An ocularist, a provider specially trained to make and fit prosthetic eyes; and

• •

  An oculoplastic surgeon, a provider who specializes in surgery for the eye and eye socket.

The eye sockets are critical for a baby’s face to grow and develop properly. If a baby has bilateral anophthalmia, the bones that shape the eye socket may not grow properly. Babies can be fitted with a plastic structure called a conformer that can help the eye socket and bones to grow. As babies get older, these devices will need to be enlarged to help expand the eye socket, they can also be fitted for artificial eyes.

Babies born with bilateral anophthalmia can often benefit from early intervention and therapy to help their development and mobility.

Suggested MER for Evaluation:

• •

  Clinical history and ocular examination that describes diagnostic features of the impairment.

Suggested Listings for Evaluation:

Meets

102.02

102.03

102.04

Equals

ALTERNATE NAMES

Carey-Fineman-Ziter Disease; CFZ Disease; CFZS; CFZ Syndrome; Congenital Non-Progressive Myopathy with Moebius and Robin Sequences; Myopathy-Moebius-Robin Syndrome

DESCRIPTION

Carey-Fineman-Ziter Syndrome (CFZS) is a very rare genetic muscular disorder that is present at birth (congenital myopathy). It is characterized by facial weakness or paralysis, and a small or retracted chin and cleft palate (Pierre Robin sequence), among other symptoms.

CFZS is caused by mutations in the MYMK gene that encodes the protein myomaker. This protein is necessary for the fusion of muscle cells (myoblasts) into muscle fibers (myotubes) during the development of an embryo and the regeneration of muscle cells after injury.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnostic testing for CFZS may include:

• •

  Physical examination;

• •

  Genetic testing;

• •

  Medical and family medical history; and

• •

  Magnetic resonance imaging (MRI).

Physical findings: Signs and symptoms of CFZS may include:

• •

  Anteverted nares (upturned nose);

• •

  Aplasia/hypoplasia (absence or underdevelopment of the tongue);

• •

  Brachydactyly (short fingers or toes);

• •

  Downward slanting palpebral fissures (the opening between the eyelids);

• •

  Prominent epicanthus (upper eyelid fold covering the inner corner of the eye);

• •

  Facial palsy;

• •

  Hypotonia (low muscle tone);

• •

  Impaired ocular abduction (eye movement away from nose);

• •

  Intellectual disability;

• •

  Long philtrum (vertical groove located in the center of the upper lip);

• •

  Microcephaly (abnormally small cranium);

• •

  Micrognathia (decreased size of lower jaw);

• •

  Pierre Robin sequence;

• •

  Ptosis (drooping upper eyelid);

• •

  Scoliosis;

• •

  Short nose;

• •

  Short stature;

• •

  Skeletal muscle atrophy; and

• •

  Thin vermilion border (decreased volume of lip).

ICD-9: 359.9

ICD-10: Q87.0

PROGRESSION

CFZS is a lifelong condition without a cure. Prognosis for CFZS is fair. Individuals with this condition will likely have notable impact on their life and ability to function.

TREATMENT

Treatment for CFZS addresses symptoms of the condition.

Primary care providers, geneticists, neurologists, and other health care professionals may need to plan an affected individual’s treatment systematically and comprehensively.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment;

• •

  Genetic testing results; and

• •

  Results of MRI.

Suggested Listings for Evaluation:

Meets

101.24

Equals

ALTERNATE NAMES

ARCI4B; Autosomal Recessive Congenital Ichthyosis 4B; Autosomal Recessive Congenital Ichthyosis, Harlequin Type Ichthyosis; Harlequin Baby Syndrome; Harlequin Fetus; Harlequin-Type Ichthyosis; Harlequin Type Ichthyosis; HI; Ichthyosis Congenita; Ichthyosis, Congenital, Autosomal Recessive 4b (Harlequin); Ichthyosis Congenita, Harlequin Type; Ichthyosis, Congenital, Autosomal Recessive Type 4B; Ichthyosis Fetalis; Ichthyosis Fetalis, Harlequin Type

DESCRIPTION

Harlequin Ichthyosis (HI) is a rare skin disease caused by changes (mutations) in the ABCA12 gene that is present at birth. It is the most severe type of ichthyosis, which is characterized by scaly, thick, hyperkeratotic (rough) skin. Infants born with HI have hard, thick plates of skin that cracks and splits apart. These plates of skin can pull at and distort facial features and restrict breathing and eating. Infants with this condition may become dehydrated and develop life-threatening infections in their first few weeks of life.

HI affects males and females equally and occurs in approximately one in every 300,000 to 500,000 births annually in the United States.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Children with HI are often diagnosed based on their appearance at birth. Other ways to diagnose HI include:

• •

  Skin biopsy;

• •

  Histiological findings of hyperkeratotic skin; and

• •

  Ultrasound or amniocentesis during the second trimester.

Prenatal genetic testing may reveal mutations in the ABCA12 gene and confirm diagnosis of the condition before birth.

Physical findings: Children with HI may experience various signs and symptoms including:

• •

  Premature birth;

• •

  Widespread redness and scales;

• •

  Out turned eyelids and lips caused by skin tightness;

• •

  Eating difficulty;

• •

  Thick, platelike scales of skin at birth;

• •

  Tight skin with deep cracks (fissures);

• •

  Dehydration;

• •

  Flat nose;

• •

  Fused ears;

• •

  Small, swollen hands and feet;

• •

  Abnormal hearing;

• •

  Frequent respiratory infections;

• •

  Decreased joint mobility; and

• •

  Low body temperature.

ICD-9: 757.1

ICD-10: Q80.4

PROGRESSION

Around half of the children affected by HI die within the first few months. Those who survive the first year of life often have long-term problems such as red skin, joint contractures, and delayed growth.

TREATMENT

There is no cure for HI. Infants and newborns require constant supportive care. Although improved treatment options have given babies a better chance at survival, many still die within the first few weeks of life due to complications of the disease.

Supportive treatments may include:

• •

  Skin treatments such as moisturizing cream, antibiotics, petroleum jelly, or retinoid treatments.

• •

  A humidified incubator to decrease evaporative losses and thermal instability, improve fluid and electrolyte balance, and enhance skin integrity.

• •

  Intubation (an artificial ventilation tube into the trachea) is often required until nares (nostrils) are present.

• •

  Nutritional support with tube feeding is essential until eclabium (outward turning of the lips) resolves and infants can begin nursing.

• •

  Ophthalmologic consultation is useful for the early management of ectropion (outward turning of the lower eyelid that exposes the inner surface of the eyelid), which is initially pronounced and resolves as scales are shed.

Doctors may need to perform debridement (removing dead, damaged, or infected tissue) on infants and newborns with constrictive bands of hyperkeratosis (thick, rough skin) to avoid digital ischemia (reduced blood supply to the fingers or toes). Occasionally, digital autoamputation (spontaneous loss of a finger or toe) or necrosis will occur due to cutaneous constriction bands (a rare, congenital condition that causes bands to form around limbs or digits). Relaxation incisions have been used to prevent this complication.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment; and

• •

  Biopsy results.

Meets

101.18

108.09

110.08 A or B

Equals

ALTERNATE NAMES

Congenital Muscular Dystrophy Due to LMNA Mutation; Dropped Head Syndrome; Laminopathy L-CMD; LAMIN A/C; LAMIN Congenital Muscular Dystrophy; LAMIN-related Congenital Muscular Dystrophy; L-CMD; LMNA-MD; LMNA-related Muscular Dystrophy

DESCRIPTION

LMNA-related congenital muscular dystrophy (L-CMD) is a rare neuromuscular disorder caused by mutations in the LMNA gene. L-CMD primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic conditions called congenital muscular dystrophies, which cause weak muscle tone (hypotonia) and muscle wasting (atrophy) beginning very early in life.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of L-CMD is made by:

• •

  Physical examination;

• •

  Genetic testing;

• •

  Monitoring elevated creatine kinase levels in the blood which indicates muscle weakness; and

• •

  Electromyography (EMG).

Physical findings: The physical signs and symptoms of L-CMD are:

• •

  Muscle hypotonia (muscle weakness);

• •

  Joint contractures;

• •

  Spinal rigidity;

• •

  Respiratory difficulties due to weak chest muscles;

• •

  Dropped head syndrome (weak neck muscles);

• •

  Heart arrhythmias (abnormal heart rhythms);

• •

  Developmental delays; and

• •

  Abnormal curvature of the spine;

ICD-9: 359.0

ICD-10: G71.09; G71.2

PROGRESSION

Muscle weakness becomes apparent in infancy or early childhood and can worsen quickly. The most severely affected infants develop few motor skills, and they are never able to hold up their heads, roll over, or sit. Less severely affected children may learn to sit, stand, and walk before muscle weakness becomes apparent. First, the neck muscles weaken, causing the head to fall forward (dropped-head syndrome). As other skeletal muscles become weaker, these children may ultimately lose the ability to sit, stand, and walk unassisted. Over time, most infants and children with L-CMD will develop trouble eating and breathing. The breathing problems result from restrictive respiratory insufficiency, which occurs when muscles in the chest are weakened, and the ribcage becomes increasingly rigid. This problem can be life-threatening, and many affected children require support with mechanical ventilation to help them breathe.

Respiratory insufficiency is the main cause of death. Thereafter, cardiac dysfunction and arrhythmias leading to sudden death, which are very frequent in young adults, determines the vital prognosis. Embolic complications due to conduction disorders and right heart failure may worsen the poor prognosis. Respiratory insufficiency and recurrent pulmonary infections reduce the lifespan or may lead to permanent ventilation or tracheostomy.

TREATMENT

There is no cure for L-CMD. Treatment is supportive and focuses on improving quality of life and managing symptoms. Treatments include corticosteroids, cardiac monitoring, and respiratory support. An individual with L-CMD may have multidisciplinary treatment that includes gene therapy, physical therapy, occupational therapy, and speech therapy. Supplemental feeding may help with eating and weight control to avoid obesity. Mechanical devices may be used to help with ambulation and mobility.

Suggested MER for Evaluation:

• •

  Clinical examination including a description of physical findings;

• •

  Laboratory testing reports that document creatine kinase level;

• •

  Sequential pulmonary function testing (PFT);

• •

  Echocardiography (echo) testing results; and

• •

  Genetic testing documenting mutations in the LMNA gene.

Suggested Listings for Evaluation:

Meets

101.00

103.14

104.05

110.08 B

111.13

112.14

Equals

ALTERNATE NAMES

Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome; ZTTK Syndrome

DESCRIPTION

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare genetic disorder characterized by a combination of neurological, developmental, and physical abnormalities. ZTTK syndrome is caused by a change in the SON gene at conception. Most individuals with ZTTK syndrome have a new (de novo) variant in the SON gene that was not inherited from either biological parent. This condition typically affects multiple body systems; however, it can affect each individual differently depending on where the change is located on the SON gene.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: ZTTK syndrome is diagnosed by:

• •

  Clinical examination;

• •

  A detailed patient and family history;

• •

  Magnetic resonance imaging (MRI) of the brain;

• •

  Electroencephalogram (EEG); and

• •

  Whole exome sequencing (WES).

Molecular genetic testing such as chromosomal microarray analysis (CMA), fluorescent in situ hybridization (FISH), and cytogenetic analysis (karyotyping) for variants of the SON gene can confirm the diagnosis.

Physical findings: How individuals are affected by ZTTK syndrome will vary based on where changes occurred on the SON gene. Some common signs and symptoms of this condition may include:

• •

  Developmental delay;

• •

  Intellectual disability;

• •

  Brain malformations;

• •

  Unique facial features (facial asymmetry, midface retraction, deep-set eyes, low set ears);

• •

  Muscle abnormalities (low muscle tone, contractures or loose joints);

• •

  Spinal curvature (scoliosis, kyphosis);

• •

  Eye abnormalities (misaligned eyes, vision loss); and

• •

  Short stature.

ICD-9: 759.0

ICD-10: Q87.8

PROGRESSION

ZTTK syndrome typically progresses with a noticeable developmental delay, where intellectual disability increases with age, often presenting with delayed motor skills, language acquisition, and cognitive development, alongside potential brain abnormalities like abnormal gyral patterns and white matter issues. Symptoms of ZTTK syndrome may start to appear as a newborn. However, some symptoms can begin at any age. Seizures may also develop between the ages of 1 and 6 years old in many patients, while other symptoms like facial dysmorphisms and musculoskeletal abnormalities may become more apparent over time.

TREATMENT

There is no cure for ZTTK syndrome. Treatment is supportive and based on individual symptoms. A specialist care team may include genetics/genetic counseling, neurology, psychiatry, cardiology, nephrology, ophthalmology, audiology, immunology, orthopedics, and gastroenterology. Affected children should have imaging to screen for kidney and heart abnormalities. Imaging of the brain may include MRI to identify structural brain differences and EEG if seizures are suspected. Growth, feeding and development should be monitored.

Supportive therapies such as speech, occupational, and physical therapies may be helpful, and school aged children may benefit from accommodations such as an individualized education plan (IEP). Genetic counseling is recommended for affected children and their families.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment; and

• •

  Genetic testing confirming the presence of SON gene mutations.

Suggested Listings for Evaluation:

Meets

101.18

101.24

102.02

102.03

102.04

102.10

104.06

110.08 B

111.02 A or B

111.09

112.02

112.05

112.11

112.14

Equals

ALTERNATE NAMES

Au-Kline-Okamoto Syndrome; HNRNPK-Related Neurodevelopmental Disorder; Okamoto Syndrome

DESCRIPTION

Au-Kline syndrome is a condition that affects many body systems. It is caused by mutations in the HNRNPK gene. Children with this condition typically have weak muscle tone (hypotonia), intellectual disability, delayed development, and delayed speech with some children able to say only one or a few words or are never able to speak at all. Some children with Au-Kline syndrome have an abnormal curvature of the spine (scoliosis). In addition, affected children learn to walk later than usual, and some are never able to walk on their own.

Malformations of the heart, blood vessels, kidneys, or bones can also occur in children with Au-Kline syndrome. In some affected individuals, the large blood vessel that distributes blood from the heart to the rest of the body (the aorta) becomes weakened and stretched (aortic dilatation), which can be life-threatening.

Au-Kline syndrome can sometimes affect the autonomic nervous system, which controls involuntary body functions, such as digestion and regulation of body temperature. In people with Au-Kline syndrome, abnormalities in this system can lead to digestive problems, difficulty feeling pain, abnormal sweating, and an inability to adjust to high heat.

Additional complications can include craniosynostosis, feeding difficulty, vision issues, osteopenia (reduced bone density), and other skeletal anomalies.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of Au-Kline syndrome is based on:

• •

  Symptoms;

• •

  Clinical examination; and

• •

  Genetic testing for mutations in the HNRNPK gene.

Physical findings: Signs and symptoms of Au-Kline syndrome may include:

• •

  Hypotonia (muscle weakness);

• •

  Developmental delay/intellectual disability;

• •

  Central nervous system malformations;

• •

  Vision issues;

• •

  Hyporeflexia or areflexia (decreased or absent muscle reflex response);

• •

  High pain tolerance;

• •

  Dysmorphic facies (abnormal differences in facial structure);

• •

  Craniosynostosis (fusion of bones in an infant’s skull);

• •

  Cleft palate;

• •

  Congenital heart defects;

• •

  Cryptorchidism (undescended testicles);

• •

  Hydronephrosis (built up urine in the kidneys);

• •

  Feeding difficulties;

• •

  Digestive problems;

• •

  Inability to regulate body heat;

• •

  Muscle weakness;

• •

  Growth deficiency;

• •

  Scoliosis;

• •

  Osteopenia (reduced bone density); and

• •

  Hearing loss.

ICD-9: 759.9

ICD-10: Q87.8

PROGRESSION

The symptoms of Au-Kline syndrome may start to appear as a newborn and as an infant. Other symptoms may begin in a single age range, or during several age ranges. The severity of features can vary greatly between individuals, and some may experience complications related to heart, kidney, or skeletal abnormalities that may require ongoing medical management throughout their lives.

TREATMENT

Currently, there is no cure for Au-Kline syndrome. Treatment focuses on supportive care to improve quality of life, maximize function, and reduce complications.

Physical therapy may be helpful for hypotonia (muscle weakness). Feeding therapy for poor weight gain; gastrostomy tube placement may be required for persistent feeding issues.

Individuals with autonomic dysfunction may see a neurologist. Bisphosphonate treatment could be considered for those with osteopenia (low bone mass) who experience recurrent fractures. Standard treatments for other symptoms of Au-Kline syndrome may occur.

Suggested MER for Evaluation:

• •

  Clinical history and physical examination that describes the diagnostic features of the impairment; and

• •

  Genetic sequencing tests confirming mutation of the HNRNPK gene.

Suggested Listings for Evaluation:

Meets

102.00

104.00

105.00

112.00

Equals

ALTERNATE NAMES

Allogeneic HCT; Allogeneic HSCT; Autologous HCT; Autologous HSCT; Bone Marrow Transplant; Bone Marrow Transplantation; Cord Blood Transplant; HCT; Hematopoietic Progenitor Cell Transplant; Hematopoietic Progenitor Cell Transplantation; HPCT; HSC; HSCT ; LT-HSC; Multipotent Progenitor; Peripheral Blood Stem Cell Transplant; Stem Cell Transplant; Stem Cell Transplantation

DESCRIPTION

Hematopoietic stem cell transplantation (HSCT), also known as stem cell transplantation or bone marrow transplantation, involves administering healthy hematopoietic stem cells, which are immature cells found in bone marrow and peripheral blood that can develop into red blood cells, platelets, and white blood cells, to individuals with dysfunctional or depleted bone marrow. Different hematopoietic stem cell sources may be used in HSCT, including peripheral blood stem cells, bone marrow stem cells, and cord blood stem cells.

There are two main types of HSCT:

• •

  Autologous – the transplanted cells come from the patient; and

• •

  Allogeneic – the transplanted cells come from a donor.

HSCT does not include immunotherapies (immune effector cell therapies), such as chimeric antigen receptor T cell (CAR-T cell) therapy.

An individual’s immune system remains impaired for up to 12 months after receiving an HSCT and the individual generally remains severely immunocompromised. There is high risk of the underlying condition(s) returning, developing new organ damage, or developing severe infections or diseases. Because of the severe immune compromise, the high risk of complications, and the difficult recovery period during this time, the 12 months after the date of transplantation is considered CAL-level impairment. Note: Complications do not have to occur in order to meet CAL requirements.

HSCT can be used to treat several malignant (cancerous) conditions, such as leukemias or lymphomas, and non-malignant conditions, such as conditions involving dysfunction of the hematological or immune systems, in adults and children. HSCT may also be used to treat conditions such as multiple sclerosis or Hurler’s syndrome.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnostic testing is completed after the HSCT to monitor engraftment (when transplanted stem cells produce mature cells), detect relapse, identify graft failure, and assess graft-versus-host-disease (GVHD).

An individual may experience side effects and complications related to the transplant or post-transplant treatment. Testing to diagnose these conditions will vary based on the type of condition and the symptoms each individual may experience.

Physical findings: An individual may experience severe complications after receiving an HSCT. These complications usually occur because of the conditioning regimen, also known as a preparative regimen, which includes the use of high-dose chemotherapy or total body irradiation or both to destroy bone marrow cells in order to create space in the bone marrow for the healthy stem cells to engraft and to suppress the immune system. Other complications occur because the transplanted hematopoietic stem cells did not engraft; or once engrafted, treat the recipient’s body as foreign and attack it.

The most common complications that occur after an HSCT are acute or chronic GVHD and pancytopenia. Other complications can include frequent or life-threatening infections or deterioration of organ systems. These complications usually occur in the first 12 months after transplantation.

An individual with pancytopenia may experience signs and symptoms that may include:

• •

  Anemia (low red blood cells);

• •

  Leukopenia (low white blood cells);

• •

  Thrombocytopenia (low platelets);

• •

  Fatigue;

• •

  Weakness;

• •

  Dizziness;

• •

  Shortness of breath;

• •

  Easy bruising and bleeding; and

• •

  Frequent infections;

Acute or chronic GVHD generally affects the skin, gastrointestinal tract, and liver. Signs and symptoms of GVHD may include:

• •

  Rash;

• •

  Bullous lesions (large, fluid-filled blisters (bullae) on the skin or mucous membranes);

• •

  Diarrhea;

• •

  Abdominal pain;

• •

  Dry, burning eyes;

• •

  Dryness or painful sores in the mouth;

• •

  Nausea;

• •

  Vomiting;

• •

  Loss of appetite;

• •

  Yellowing of the skin and eyes (jaundice);

• •

  Elevated bilirubin and alkaline phosphatase levels;

• •

  Severe coagulopathy (impaired ability for blood to clot);

• •

  Severe hyperammonemia (high levels of ammonia in the blood);

• •

  Enlarged liver (hepatomegaly);

• •

  Pale urine; and

• •

  Pale (acholic) stool.

ICD-9: 279.5; 284.1; 996.85; 999.89; V42.81; V42.82

ICD-10: D61.81; D61.89; D89.810; D89.811; D89.812; T86.0; T86.5

PROGRESSION

HSCT recipient survival rates vary greatly depending on a number of factors, including the underlying condition and patient- and donor-related factors. There has been some improvement in survival due to advances in HSCT methods and supportive care and it is now a potentially curative treatment for some conditions. Despite these improvements, disease relapse and acute and chronic complications continue to affect survival rates.

Complications are common within one year after the transplant. These complications are often caused by the conditioning regimen, delayed immune reconstitution, and GVHD. Those with complications have higher rates of inpatient readmission to the hospital in the 12-months following transplantation. The risk and type of complications vary and are influenced by patient-related factors such as age, performance status, and comorbidities.

TREATMENT

The transplant occurs when the healthy hematopoietic stem cells are administered to the recipient as an intravenous (IV) infusion. Additional IV medications may be provided immediately before the infusion to prevent complications. The day of the infusion is considered the date of transplantation.

The post-transplant hospitalization period typically lasts through engraftment, which usually takes 10-21 days. During this period, treatment generally includes daily blood count monitoring, antibiotic or antiviral prophylaxis, and use of precautions to avoid exposure to germs. Supportive and, occasionally, intensive care may be required to treat complications during the period between conditioning and engraftment.

Because the immune system is severely impaired, the transplant recipient may receive treatment for complications such as infections or immunodeficiency during the 12 months after the HSCT. This treatment may include monitoring for potential relapse of the underlying condition; evaluation and management of chronic GVHD; and evaluation and treatment of late complications, such as cardiovascular disease, respiratory disease, frailty, neuropsychiatric disorders, secondary malignancies (new cancers caused by treatment), and endocrinopathies.

Suggested MER for Evaluation:

• •

  Physical examination;

• •

  Report showing history of HSCT within the past 12 months; and

• •

  Diagnostic testing and reports related to the underlying condition that was treated with HSCT.

Suggested Listings for Evaluation:

For these listings we generally consider under a disability at least 12 months after the date of transplantation. Any residual impairment(s) that occurs more than 12 months after the date of transplantation should generally be evaluated under the affected body system.

Meets

7.17

13.05 C

13.06 A or B

13.07 B

13.28 A or B

14.07 B

107.17

113.05 C

113.06 A or B

114.07 B

Hematological disorders treated with HSCT meet the requirements of listing 7.17.

Cancers treated with allogeneic HSCT meet the requirements of listing 13.28 A.

Cancers treated with autologous HSCT meet the requirements of 13.28 B.

Hematological disorders treated with HSCT meet the requirements of listing 107.17.

Equals

7.17

107.17

Sickle cell disease (SCD) or beta thalassemia treated with one of three approved cell-based gene therapies (Casgevy, Lyfgenia, or Zynteglo), generally medically equal listing 7.17.

SCD or beta thalassemia treated with one of three approved cell-based gene therapies (Casgevy, Lyfgenia, or Zynteglo), generally medically equal listing 107.17.

ALTERNATE NAMES

Duchenne–Aran Muscular Atrophy; PMA

DESCRIPTION

Progressive Muscular Atrophy (PMA) is a rare, sporadic, adult-onset motor neuron disease. PMA is a clinical disorder characterized by degeneration of lower motor neurons. These types of motor neurons directly innervate skeletal muscles and control voluntary movements.

Motor neuron diseases are a group of disorders characterized by progressive damage to an individual’s motor neurons, the cells in the nervous system that allow an individual to perform functions such as speech, breathing, and movement.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnostic testing for PMA may include:

• •

  Physical examination;

• •

  Medical and family history;

• •

  Blood work;

• •

  Cerebrospinal fluid analysis;

• •

  Computed tomography (CT) scans;

• •

  Electromyography (EMG);

• •

  Lumbar puncture;

• •

  Magnetic resonance imaging (MRI) scans;

• •

  Muscle and nerve biopsies;

• •

  Nerve conduction velocity (NCV) test; and

• •

  Urinalysis.

Physical findings: Signs and symptoms of PMA include:

• •

  Difficulty with motor function leading to clumsiness;

• •

  Difficulty breathing;

• •

  Inability to use the arms (flail arm syndrome);

• •

  Muscle cramps or pain;

• •

  Muscle twitching;

• •

  Unexplained weight loss; and

• •

  Weakness in hands, arms, core, or legs.

ICD-9: 335.29

ICD-10: G11.4; G12.1; G12.25

PROGRESSION

PMA is progressive, which means it will worsen over time. It often progresses very gradually and may affect only one part of the body for several years. PMA is fatal. However, the length of time an individual will live with the disease fluctuates. The life expectancy averages 5 to 10 years.

Individuals with PMA eventually develop upper motor neuron damage, which more resembles an amyotrophic lateral sclerosis (ALS) diagnosis.

TREATMENT

There is no cure for PMA. Treatment is designed to slow down the damage to maintain a good quality of life for as long as possible.

Although there is no standard treatment for PMA, doctors work with patients to develop a treatment plan to help manage symptoms. Treatments may include medication, nutritional counseling, physical therapy, and occupational therapy.

Doctors may prescribe Riluzole, a medication typically used for ALS, to slow down damage to motor neurons. Other medications are used to treat pain, muscle cramping, and twitching.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment;

• •

  Results of imaging (CT scan and MRI);

• •

  Results of EMG and NCV testing; and

• •

  Results of lumbar puncture and muscle and nerve biopsy.

Suggested Listings for Evaluation:

Meets

11.22

Equals

ALTERNATE NAMES

Diffuse Alveolar Septal Amyloidosis; Pulmonary Primary Amyloidosis; Systemic AL Amyloidosis with Pulmonary Involvement

DESCRIPTION

Amyloidosis is a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs causing damage to organs and tissues. AL amyloidosis is the most common form. Pulmonary amyloidosis - AL type occurs when plasma cells in the bone marrow produce abnormal immunoglobulin light chains that form these amyloid deposits accumulate in the lungs. When amyloid deposits accumulate in the lungs, this can lead to lung dysfunction and various respiratory symptoms depending on the severity and location of the deposits.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of pulmonary amyloidosis - AL type is made by:

• •

  Computed tomography (CT) scan of the chest;

• •

  Radiological findings;

• •

  Lung biopsy (confirms the diagnosis);

• •

  Immunohistochemical staining; and

• •

  Pulmonary function tests.

Physical findings: The signs and symptoms of pulmonary amyloidosis – AL type include:

• •

  Hoarseness;

• •

  Stridor (abnormal, high pitched breathing sound);

• •

  Exertional dyspnea (shortness of breath or difficulty breathing during exercise or physical exertion);

• •

  Hemoptysis (blood or bloody mucus from lungs and throat);

• •

  Numbness, tingling, or pain in the hands or feet;

• •

  Swelling of the ankles and legs;

• •

  Diarrhea;

• •

  Constipation;

• •

  An enlarged tongue, which sometimes looks rippled around its edge; and

• •

  Skin changes, such as thickening or easy bruising, and purplish patches around the eyes.

ICD-9: 277.39

ICD-10: E85.81

PROGRESSION

Symptoms of this disease may start to appear as an adult. The presence of AL amyloid deposits in the lungs often indicates a wider systemic involvement with a poor overall outlook. Early diagnosis and treatment are crucial for better management and potential survival rates.

TREATMENT

Pulmonary amyloidosis – AL type is difficult to treat, and treatment is generally only marginally effective. Treatment may consist of chemotherapy and/or bone marrow or stem cell transplantation. Treatment generally focuses on the management of the underlying systemic amyloidosis.

Suggested MER for Evaluation:

• •

  Clinical examination that describes the diagnostic features of lung involvement;

• •

  CT scan of the chest; and

• •

  Lung tissue biopsy.

Suggested Listings for Evaluation:

Meets

3.02

3.14

Equals

ALTERNATE NAMES

Child Chronic Progressive Epilepsia Partialis Continua; Chronic Encephalitis; Chronic Focal Encephalitis; Chronic Localized Encephalitis; Chronic Progressive Epilepsia Partialis Continua of Childhood; Rasmussen Disease; Rasmussen Syndrome

DESCRIPTION

Rasmussen Encephalitis (RE) is a very rare disorder of the central nervous system characterized by chronic inflammation of one hemisphere of the brain. The inflammation leads to frequent seizures (epilepsy) and as it progresses, it causes worsening weakness in one side of the body and mental decline.

RE most commonly affects children between the ages of 2 and 10, but it can affect adolescents and adults as well.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnostic testing for RE may include:

• •

  Clinical evaluation and medical history;

• •

  Electroencephalography (EEG); and

• •

  Magnetic resonance imaging (MRI).

Physical findings: Symptoms of RE include:

• •

  Aphasia (progressive loss of speech and language abilities);

• •

  Hemianopsia (partial loss of sight in half of your visual field);

• •

  Hemiparesis (paralysis of one side of the body);

• •

  Mental decline, such as issues with thinking, intellect, and memory; and

• •

  Seizures.

ICD-9: 323.9

ICD-10: G04.90

PROGRESSION

The prognosis for RE varies. Surgery may stop the disease progression and stabilize an individual’s seizures. However, most individuals with RE have some paralysis, cognitive decline, and issues with speech.

In very rare cases, the condition can progress to the other hemisphere of the brain.

TREATMENT

There is no cure for RE. Instead, the goal of treatment is to manage symptoms and inflammation. Treatment may include antiseizure medications, immunotherapy, and brain surgery, such as hemispherectomy (surgical removal or disconnection of half of the brain from the rest of the brain).

Hemispherectomy is most effective in treating seizures in RE. Most children who have this surgery have already lost the function of the affected hemisphere.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes diagnostic features of the impairment;

• •

  EEG; and

• •

  MRI.

Suggested Listings for Evaluation:

Meets

11.02

11.07

12.02

12.05

12.11

111.02

111.07

111.09

112.02

112.05

112.11

112.14

Equals

ALTERNATE NAMES

Carcinoma of Thymus; Malignant Thymoma; TET; THYC; Thymoma Type C; Thymoma, Malignant; Thymoma, Malignant (Morphologic Abnormality); Thymoma, Type C; Thymoma, Type C (Morphologic Abnormality); Thymus Carcinoma

DESCRIPTION

Thymic Carcinoma (TC) is a rare, aggressive form of cancer that starts on the thymus, a gland that is primarily responsible for the production and maturation of immune cells. The thymus consists of two types of cells: epithelial cells (the tissue that covers organs and other body parts) and lymphocytes (a type of white blood cell). TC is also called thymic epithelial tumor (TET) because it originates from abnormal epithelial cell growth.

There are three major types of TET:

• •

  Thymoma is the most common type. It is a slow growing tumor that rarely spreads beyond the thymus. This form is the least likely to reach listing level severity and is not considered a CAL-level condition.

• •

  TC is a more severe form of TET that develops fast and is more likely to spread to other parts of the body. It also generally requires more complex treatment. It is considered a CAL-level condition because it is likely to spread beyond the regional lymph nodes.

• •

  Small Cell Cancer of the Thymus is one of the rarest cancers that occurs in humans. Small Cell Cancer of the Thymus is not the same disorder as TC. It is currently a CAL condition.

Although extremely rare, TC can occur in children. It is more likely to occur in adults between ages 40 and 75 who have Asian or Pacific Islander heritage. It is more common in women.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: TC is diagnosed by:

• •

  Physical examination;

• •

  Results of imaging studies (i.e., chest x-ray, MRI, CT scan, PET scan) showing evidence of metastases or recurrence; and

• •

  Biopsy.

Physical findings: Most individuals with TC have no symptoms in the early stages of the disease. Symptoms often arise when a tumor impacts the chest organs. These symptoms may include:

• •

  Chest pain or pressure;

• •

  Persistent cough;

• •

  Shortness of breath;

• •

  Hoarseness;

• •

  Swelling in the neck or face; and

• •

  Trouble swallowing.

TC tumors can cause damage to the phrenic nerve, which controls the diaphragm’s movement, resulting in phrenic nerve palsy which may lead to weakness of the diaphragm or diaphragmatic paralysis, affecting breathing.

Tumors may also compress the vena cava (large veins that carry blood to the heart) causing a very serious condition known as superior vena cava syndrome. Symptoms of superior vena cava syndrome may include:

• •

  Chest pain;

• •

  Hoarseness;

• •

  Cough;

• •

  Shortness of breath;

• •

  Fatigue;

• •

  Dizziness;

• •

  Headaches;

• •

  Swelling in the neck, face, arms, hands and upper chest; and

• •

  Enlarged and bulging veins in the neck and check.

ICD-9: 164.0

ICD-10: C37; E32.8

PROGRESSION

TC typically spreads to nearby tissues such as the lining of the chest cavity, eventually metastasizing to distant organs, often through lymph nodes. Prognosis is poor due to the high frequency of recurrences and metastases in the pleura, lung, lymph nodes, bone, brain, and liver. The survival rate at 5 years is 35%.

TREATMENT

Treatment of TC includes total thymectomy (removal of the thymus) and complete tumor excision usually accompanied by neoadjuvant or adjuvant therapy consisting of radiotherapy, chemotherapy, or both. In case of metastases, platinum-based chemotherapy is the first-line treatment.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment;

• •

  Results of imaging studies (i.e., chest x-ray, MRI, CT scan, PET scan) showing evidence of metastases or recurrence; and

• •

  Biopsy results.

Suggested Listings for Evaluation:

Meets

13.15 B

Equals

ALTERNATE NAMES

Autosomal Dominant Turnpenny-Fry Syndrome; Autosomal Turnpenny-Fry Syndrome; Neurocardioskeletal Syndrome; TPFS; Turnpenny Fry Syndrome

DESCRIPTION

Turnpenny-Fry syndrome (TPFS) is a rare developmental disorder caused by mutations in the PCGF2 gene. It affects multiple body systems and is characterized by developmental delay, intellectual disability, impaired growth, and a recognizable facial appearance.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: TPFS is typically diagnosed based on clinical features and genetic testing confirming the presence of mutations in the PCGF2 gene.

Physical findings: Signs and symptoms of TPFS may include:

• •

  Prominent forehead;

• •

  Flat cheek bones;

• •

  Small eye fissures (space between the upper and lower eyelids);

• •

  Small mouth;

• •

  Sparse hair;

• •

  Low birth weight;

• •

  Developmental delays;

• •

  Delayed or absent speech;

• •

  Heart defects; and

• •

  Skeletal abnormalities.

Other possible signs and symptoms of TPFS may include:

• •

  Seizures;

• •

  Hearing loss;

• •

  Feeding difficulties;

• •

  An increased risk of leukemia; and

• •

  Constipation.

ICD-9: 759.89

ICD-10: Q89.8

PROGRESSION

The prognosis for children with TPFS varies depending on the severity of their symptoms. Some children may have a relatively mild form of the disorder, while others may face significant challenges. With proper care and support, many children with TPFS can live fulfilling lives.

TREATMENT

There is no cure for TPFS. Treatment focuses on managing the symptoms and improving quality of life. This may include supportive therapies such as speech and language therapy, physiotherapy, and occupational therapy. Seizures and other health issues are managed with medication. Heart defects or skeletal abnormalities may be corrected with surgery. Families may undergo genetic counseling.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the clinical features of the impairment; and

• •

  Genetic testing confirming the presence of PCGF2 gene mutations.

Suggested Listings for Evaluation:

Meets

101.18

101.24

102.10

102.11

110.08 B

111.02

111.09

112.05

Equals

ALTERNATE NAMES

Anaplastic Meningioma; Grade III Meningioma; Grade 3 Meningioma; Malignant Meningioma; Malignant Meningioma with Rhabdoid Features; Meningioma Grade 3; Meningioma Grade III; Meningeal Tumor; Papillary Meningioma; Rhabdoid Meningioma; Rhabdoid Morphology Meningioma; WHO Grade 3 Meningioma

DESCRIPTION

Meningioma is a type of tumor that originates from the membranes that cover and protect the brain and spinal cord (meninges). Rhabdoid meningioma, anaplastic meningioma, and papillary meningioma are rare and aggressive subtypes of meningiomas characterized by rapid growth, high incidence of recurrence, and poor survival compared to other meningiomas. They are primary central nervous system (CNS) tumors that are classified as Grade III by the World Health Organization (WHO). A WHO Grade III classification means the tumor is malignant, fast growing, and often spreads to other parts of the body. Excluding brain metastases from other organs, it is the most common intracranial tumor and the most common primary brain tumor.

Only 1 to 4 percent of all meningiomas are grade III. The cause is not known. Meningiomas can occur at any age, but they are most common in adults aged 65 or older, and the risk increases with age. Men are more likely to be diagnosed than women. Although extremely rare, these tumors can occur in children. The survival is shorter in children compared to adults.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnostic testing for WHO Grade III meningiomas may include:

• •

  Physical examination;

• •

  Medical and family history;

• •

  Neurological examination;

• •

  Brain magnetic resonance imaging (MRI);

• •

  Computed tomography (CT) scan.

Physical findings: Symptoms for WHO Grade III meningiomas include:

• •

  Behavioral or personality changes;

• •

  Changes in your vision, such as double vision, blurriness, or loss of vision;

• •

  Dizziness;

• •

  Headaches;

• •

  Hearing loss;

• •

  Loss of smell;

• •

  Memory problems;

• •

  Muscle weakness in certain areas of your body;

• •

  Nausea and vomiting;

• •

  Overactive or overresponsive reflexes (hyperreflexia)'

• •

  Paralysis in certain area of your body; and

• •

  Seizures.

ICD-9: 192.1

ICD-10: C70.9

PROGRESSION

Prognosis for WHO Grade III meningiomas is poor due to rapid growth and high frequency of recurrence.

TREATMENT

The primary treatment for WHO Grade III meningiomas is surgical resection, which is the removal of a tumor. The goal of surgery is to obtain tissue to determine the tumor type and remove as much of it as possible without causing more symptoms. The extent of the resection largely impacts the rates of recurrence. Surgical removal (resection) might be combined with radiotherapy, especially if complete resection of the tumor is not possible. Radiation therapy alone can sometimes be used to treat small tumors.

Adjuvant radiotherapy is also used for cancerous meningiomas. It improves control of the tumor’s growth with longer progression-free survival and overall survival. Adjuvant therapy, sometimes called helper therapy, targets cancer cells that primary treatment didn’t destroy.

Palliative care may be used to help manage physical, emotional, and social symptoms and side effects caused by treatment. Palliative treatments often include medication, nutritional changes, relaxation techniques, emotional and spiritual support, and other therapies.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment;

• •

  Family medical history; and

• •

  Results of imaging (CT scan and MRI).

Suggested Listings for Evaluation:

Meets

13.13 A 2

113.13 B

Tumor is WHO Grade III and meets listing.

Equals