Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder characterized by dysmyelination of the central nervous system (CNS) caused by mutations in the proteolipid protein (PLP) gene. PLP is located at Xq22 and its mutation result in abnormal expression or production of PLP, the most abundant protein in CNS myelin. We present a case of PMD in the 7-year-old boy with nystagmus, ataxia, spastic quadriplegia and severe psychomotor delay. His brain MRI revealed totally dysmyelinated white matter involving entire supratentorial region, atrophic change, and overaccumulation of the iron in both basal ganglia. He also showed soft-tissue contractures of the hip adductors, associated hip dislocations and equinovarus foot deformities due to severe spasticity of lower extremities. Orthopaedic surgery was performed on both hips. Antispastic medication and physical therapy were maintained for reduction of spasticity. We report this case with the review of literatures.
Ataxia ; Basal Ganglia ; Brain ; Central Nervous System ; Child ; Clubfoot ; Contracture ; Foot Deformities ; Hip ; Hip Dislocation ; Humans ; Iron ; Lower Extremity ; Magnetic Resonance Imaging ; Male ; Muscle Spasticity ; Myelin Sheath ; Pelizaeus-Merzbacher Disease* ; Quadriplegia

Intrathecal administration of methotrexate is one of the standard therapies in the acute lymphocytic leukemia (ALL). Spinal puncture and tapping for intrathecal administration of methotrexate is considered as a routine procedure but this procedure carries risks of spinal hematoma in ALL patients. Spinal hematoma after spinal puncture is an uncommon condition, but it can occur more often in patients with thrombocytopenic or coagulation disorder. We report 4 year-4 month-old boy of ALL with spinal hematoma leading to paraplegia following lumbar puncture for intrathecal methotrexate treatment.
Hematoma* ; Humans ; Male ; Methotrexate ; Paraplegia* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Spinal Puncture