Iwabuchi K, Yagishita S, Amano N, Yokoi S, Honda H, Tanabe T, Kinoshita J, Kosaka K
Dept. of Neuropathology, Psychiatric Research Institute of Tokyo, Japan.
No To Shinkei. 1990 Nov;42(11):1075-83.
An autopsied case of complicated form of spastic paraplegia with many unusual clinical and pathological features is reported. Present case: a 31-year-old male. His parents are first cousins. Pregnancy and delivery had been unremarkable. Though he was mentally retarded, his physical development was normal. He was considered normal until age 10. He suffered from progressive disturbance in gait at the age of 11. He could not walk without assistance at the age of 22. Neurological examination revealed the following findings. He was obese and mentally deteriorated. Spastic paraplegia with increased tendon reflexes and pathological reflexes was prominent. Though slight sensory disturbance was present in the lower extremities, neither involuntary movement nor cerebellar ataxia was observed. In the age of late 20's, dementia, general muscular atrophy, and Parkinsonism developed. At the age of 30, he could not move by himself. He was apathic and indifferent, and showed forced laughing. Muscle tonus was flaccid because of general muscular atrophy and peripheral neuropathy. He died of acute gastric enlargement. Neuropathological findings were characterized by mal-development of the central nervous system (CNS) and the multisystem degeneration. There existed cerebral white matter hypoplasia with hypogenesis of the corpus callosum and ectopia of neurons of the cerebral and cerebellar cortex. Hypoplasia of melanin pigment was also observed in the remaining neurons of the substantia nigra and the locus ceruleus. Many neurons in the CNS included lipofuscin granules of variable shapes. Some of them showed clusters of several block-like inclusions which were green with luxol fast blue and cresyl violet stain.(ABSTRACT TRUNCATED AT 250 WORDS)
