Connatal Pelizaeus-Merzbacher Disease; Connatal PMD; Cockayane-Pelizaeus-Merzbacher Disease; Type II Connatal Pelizaeus-Merzbacher Disease; Severe PMD

Pelizaeus-Merzbacher Disease (PMD) is a rare, neurodegenerative disorder and is one of a group of genetic disorders called leukodystrophies affecting the white matter of the brain and spinal cord.

There are two main types of PMD: Classic PMD and Connatal PMD. Pelizaeus-Merzbacher Disease - Connatal Form (Connatal PMD) is the most severe, with profound motor and cognitive developmental delays.

Diagnostic testing: MRI demonstrates symmetric and widespread abnormality of the white matter of the cerebrum, brain stem, and cerebellum.

Physical findings: Individuals with Connatal PMD have:

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  Poor growth;

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  Microcephaly;

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  Joint contractures;

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  Ataxia;

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  Generalized hypotonia (decreased muscle tone); and

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  Nystagmus (involuntary eye movement).

ICD-9: 330.0

Connatal PMD presents in the first month of life and is often fatal during the first decade of life, typically due to respiratory complications.

There is no cure for PMD, and treatment is supportive and symptom specific. Physical and occupational therapies are used to minimize joint contractures and dislocations. Tracheostomy may be necessary for pharyngeal weakness. Medications are prescribed for seizures and movement disorders.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

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  MRI of the brain showing abnormal white matter (demyelination).

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