PELIZAEUS-MERZBACHER DISEASE--CONNATAL FORM

ALTERNATE NAMES

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

DESCRIPTION

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 (see Classic PMD template) and Connatal PMD. Pelizaeus-Merzbacher Disease - Connatal Form (Connatal PMD) is the most severe, with profound motor and cognitive developmental delays. Symptoms begin shortly after birth with muscle weakness, abnormal eye movements, respiratory distress, feeding difficulties, and seizures. As the child ages, developmental delays become more obvious. Other features include progressive muscle spasticity leading to joint deformities, lack of coordination, and seizures. Older children are generally nonverbal and non-ambulatory.

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

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 poor growth, microcephaly, joint contractures, ataxia, generalized hypotonia, and nystagmus.

ICD-9: 330.0

ONSET AND PROGRESSION

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

TREATMENT

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:

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

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

Suggested Listings for Evaluation:

DETERMINATION

LISTING

Meets Listing

110.08

111.06

Medical Equals