Infantile spongiform leukoencephalopathy: clinical and neuropathologic findings.
A 10-month-old male with spongy leukoencephalopathy is presented. Neurologic manifestations included feeding difficulties, horizontal nystagmus, and spasticity at 5 months of age. His head circumference was within the normal range. Radiologic examination demonstrated a diffuse white matter disorder. There was no detectable biochemical abnormality. He followed a neurologically progressive course. Neuropathologic findings revealed characteristic vacuolar changes in the white matter located immediately under the cortex with spongy alterations of the entire subcortical white matter, including intense astrocytic gliosis and marked vascular hyperplasia. Tissue of the matrix was destroyed in the deep white matter to form cystic areas of degeneration. White matter myelin development was severely disturbed compared with that of a normal infant of the same age. Cortical neuronal cells were preserved and did not reveal any specific abnormalities. Electron microscopic examination revealed that each vacuole in the white matter was covered by several layers of myelin structures, and intralamellar splits of white matter myelin were observed. These neuropathologic findings are also observed in some known inherent metabolic disorders. The present patient, however, did not demonstrate any metabolic abnormalities. These findings suggested a new genetic disorder of myelin metabolism.
Yamashita
Sumimasa
S
Division of Child Neurology, Kanagawa Children's Medical Center, Kanagawa, Japan.
Iwamoto
Hiroko
H
Hara
Masamichi
M
Arai
Nobutaka
N
D001921:Brain / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009460:Neurologic Examination; D014617:Vacuoles / Q000473:pathology