ALTERNATE NAMES

Coppola-Dulac Syndrome; EIMFS; Epilepsy of Infancy with Migrating Focal Seizures; Epilepsy with Migrating Focal Seizure in Infancy; Malignant Migrating Partial Epilepsy of Infancy; Malignant Migrating Partial Seizures of Infancy; Migrating Partial Epilepsy of Infancy; Migrating Partial Seizures of Infancy; MMPEI; MMPSI; MPEI; MPSI

DESCRIPTION

Malignant migrating partial seizures of infancy (MMPSI) is a rare, severe, and drug resistant epilepsy syndrome that starts within the first months of life. It is caused by de novo (new) mutations in genes such as KCNT1 and SCN2A. The condition is characterized by daily, nearly continuous focal seizures that "migrate" or move across both hemispheres of the brain.

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

Diagnostic testing: Diagnostic testing for MMPSI may include:

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  Electroencephalograph (EEG);

• •

  Brain magnetic resonance imaging (MRI);

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  Magnetic resonance spectroscopy (MRS); and

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  Molecular genetic testing.

Physical findings: Signs and symptoms of MMPSI may include:

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  Focal motor, tonic, or clonic seizures, often with autonomic symptoms (e.g., breath-holding, flushing, cyanosis);

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  Acquired microcephaly;

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  Spasticity;

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  Axial hypotonia (weakness of the neck/trunk);

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  Profound psychomotor regression;

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  Athetosis (involuntary writhing); and

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  Strabismus (crossed eyes) and rapid eye blinking or, less commonly, tonic eye deviation.

ICD-9: 345.40; 345.41; 345.50; 345.51; 345.9

ICD-10: G40.00; G40.009; G40.101; G40.109

PROGRESSION

Children with MMPSI begin experiencing seizures during the first six months of life, typically in the neonatal period. MMPSI has a marked drug resistance. Neurological status of children with MMPSI progressively deteriorates with worsening seizures.

MMPSI has a very poor prognosis, and many affected children do not survive childhood. Most affected children develop microcephaly by 1 year of age in addition to severe intellectual disabilities, inability to use language (aphasia).

TREATMENT

Currently, there are no anti-seizure medications that have been proven to reduce seizure frequency and duration.

Suggested MER for Evaluation:

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

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  Results of imaging; and

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  Results of genetic testing.

Suggested Listings for Evaluation:

Meets

111.02

112.02

112.05

112.14

Equals