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The brains of five cases of severe infantile form of Werdnig-Hoffmann (W-H) disease were studied to observe the pathologic changes of sensory neurons and the thalamus. The present study disclosed severe cell loss, chromatolytic degeneration, and empty cell beds of the spinal anterior horn and cranial motoneurons (V, VII, X, XII). Glial bundles were also noted in the anterior roots. In the sensory systems, glial bundles in the posterior roots (2/5), ghost cells in Clarke's column (2/5), and degeneration of the thalamus, mainly in the lateral formation (4/4) were noted. It was demonstrated that not only degeneration of lower motor neurons and glial bundles in the anterior roots, but also degeneration of sensory neurons and thalamus were present in W-H disease. These findings suggested the possibility that W-H disease is a multisystemic disease involving both the anterior and posterior root systems. No sensory involvement was found clinically. Characteristic wrist drop was observed in four cases, two of which also having motor nerve conduction velocity (MCV) delay. On the other hand, MCV of another case without wrist drop was normal. The possibility that wrist drop might be one of the clinical features of peripheral nerve dysfunction was discussed, but further pathologic evaluation of peripheral nerves is needed.

A rare case of ovarian Sertoli-Leydig cell tumor with heterologous mucinous glands and tiny carcinoid-like foci in a 33-year-old female is reported. In addition to these heterologous elements, peculiar cells, which were oval, eosinophilic and neuron-specific enolase (NSE)-positive, were also observed and had not been described previously. These NSE-immuno-reactive cells were different from argentaffin cells observed in mucinous glands and carcinoid-like foci, and seemed to play a significant role in the appearance of the heterologous mucinous gland. The nature of this peculiar NSE-immunoreactive cell is discussed.

A 16-month-old female infant with severe mental and motor retardation, clinically diagnosed as Leigh's encephalomyelopathy, forms the basis of this study. This infant was found to have lactic acidosis, low cerebrospinal fluid glucose, hyperalaninemia, and increased levels of urine lactate, pyruvate and alanine. These laboratory studies suggested an inborn error in gluconeogenesis. Further investigation revealed a low level of hepatic pyruvate carboxylase activity. The patient's elder sister who also had mental and motor deterioration was then also found to have an elevated blood lactate. These two siblings clinically and biochemically showed improvement with treatment consisting of thiamine and lipoic acid.

Four autopsied cases of tardive dyskinesia manifesting oral hyperkinesia revealed markedly inflated neurons in the cerebellar dentate nucleus (DN), which had not been described previously. The inflation of the neurons was proved to be statistically significant (P less than 0.01) by morphometric study. The nuclei were usually situated in the central portion of the cytoplasm. This inflated change was different from both central chromatolysis and grumose degeneration of the DN, typically observed in progressive supranuclear palsy and dentatorubropallidolysian atrophy, and seemed to be easy to miss without careful observation, since neuronal loss and gliosis were very mild in the DN. Among a few autopsied cases of tardive dyskinesia reported previously, degeneration of the DN was described in only two. It is believed, however, that the inflated neurons of the DN may not be so rare and may be related to the occurrence of some involuntary hyperkinesia, especially oral hyperkinesia following some neurotoxic disorders and/or neuroleptic medications.