J Korean Neurol Assoc.  1995 Mar;13(1):115-122.

Pelizaeus-Merzbacher Disease: Two Cases in a Family Diagnosed by the Clinical Features and Magnetic Resonance Imaging

• Kim SM
• Lee BC
• Kwon KH
• Kim SY
• Yoo KH
• Jung S
• Jung JW

Abstract

Pelizaeus-Merzbacher disease(PMD) is very rare x-liked recessive leukodystrophy, rather dysmyelinating d 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 abnormal 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.

MeSH Terms

Brain
Cerebellum
Cerebrospinal Fluid
Cerebrum
Cognition
Diagnosis
Dysarthria
Eye Movements
Humans
Infant
Magnetic Resonance Imaging*
Male
Myelin Sheath
Nystagmus, Pathologic
Pelizaeus-Merzbacher Disease*
Quadriplegia
Reflex, Abnormal
Respiratory Sounds
Young Adult