1. Arrested maturation of cerebral neurons, axons and myelin: a new familial syndrome of newborns.
- Author
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Lynch BJ, Becich MJ, Torack RM, and Rust RS
- Subjects
- Abnormalities, Multiple diagnosis, Abnormalities, Multiple genetics, Abnormalities, Multiple pathology, Axons pathology, Brain pathology, Brain Damage, Chronic diagnosis, Brain Damage, Chronic pathology, Cerebral Cortex abnormalities, Cerebral Cortex pathology, Cornea pathology, Corneal Edema diagnosis, Corneal Edema pathology, Endoplasmic Reticulum ultrastructure, Humans, Inclusion Bodies ultrastructure, Infant, Newborn, Male, Microscopy, Electron, Muscle Hypotonia diagnosis, Muscle Hypotonia pathology, Myelin Sheath pathology, Neurons pathology, Pedigree, Spinal Cord pathology, Syndrome, Brain abnormalities, Brain Damage, Chronic genetics, Corneal Edema genetics, Genes, Recessive genetics, Muscle Hypotonia genetics
- Abstract
A new lethal familial syndrome of unknown etiology is described in two male siblings who died in the newborn period. Both had corneal edema and were hypotonic, requiring assisted ventilation at birth. Neuropathological findings included an immature appearance of neocortical neurons, with cortical architecture similar to that normally seen in an infant of 5 months gestational age. Axons and myelin were absent in the cerebral and cerebellar white matter, and also in descending white matter tracts of brainstem and spinal cord. Subacute inflammation was seen in the anterior horns of the spinal cord in both cases, although there was no evidence of inflammation elsewhere in the nervous system. Electron microscopy of endothelial cells from brain, spinal cord and a number of other tissues of the second sibling showed tubuloreticular inclusions (TRIs). There are no known previous reports of similar neuropathology. Future recognition of this condition will be important for genetic counselling.
- Published
- 1992
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