Pelizaeus-Merzbacher disease (PMD) is very rare x-liked recessive leukodystrophy, rather dysmyelinating disease due to defect of biosynthesis of proteolipid protein, a component of myelin. Its usual clinical features are stridor, pendular
nystagmus,
extrapyramidal sign, pyramydal sign, developmental delay and cognition deterioration. Until now PMD has not been published in our country.
A 4-year 3 month-old boy developed agnormal eye movement at 3 months of age. His psychomotor development was delayed. On our examination, definite horizontal pendular nystagmus was noted. He showed severe dysarthria, quadriparesis with
generalized
hyperreflexia, bilateral extensor plantar signs. All laboratory findings including cerebrospinal fluid study were normal. Brain magnetic resonance image (MRI) revealed diffuse and symmetrical white matter changes in cerebrum and cerebellum. His
23-year-old younger maternal uncle also showed similar clinical history and brain MRI findings. Although the diagnosis of PMD depended on histopathologic investigation, recently MRI can make an important contribution to the diagnosis of PMD with
characteristic clinical features. So we could diagnose him and his uncle as PMD.
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