Postnatal sudanophilic leukodystrophy in two siblings.
Reported here are two siblings with sudanophilic leukodystrophy occurring in early infancy. Soon after birth, high fever, distension of the abdomen and spasticity of the extremities were noted. Neurologic disorders, frequent convulsive seizures, and malnutrition caused both siblings to die at the age of 3 and 6 months, respectively. Neuropathologic examination of the brain revealed diffuse demyelination in the cerebral and cerebellar white matter as well as a disturbance of the myelination, especially in the descending pathway. Numerous sudanophilic lipids and glial fibers proliferated in the demyelinated areas. Neurochemically, there was a marked decrease in all lipid components, cholesterol, phospholipids, and glycolipids and an increase in cholesterol ester. Fatty-acid composition of cerebroside and sulfatide, especially that of long-chain acids, was within normal range, unlike the fatty-acid composition found in connatal Pelizaeus-Merzbacher disease. The brain damage in postnatal infant caused by frequent convulsive seizures and the severe demyelination in the cerebral and cerebellar white matter in both patients are discussed. The cases of sudanophilic leukodystrophy and Pelizaeus-Merzbacher disease occurring in children under 5 years of age are reviewed.
D001921:Brain / Q000378:metabolism / Q000473:pathology; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D050356:Lipid Metabolism; D009186:Myelin Sheath / Q000473:pathology