A clinico-neuropathological study of a Japanese girl with hypomelanosis of Ito, one of the neurocutaneous syndromes, is reported. At birth, typical skin hypopigmentation on the trunk and a hypopigmented streak on the left lower extremity were noted. From 2 months of age, intractable convulsions occurred and EEG showed various abnormalities. Psychomotor development was severely retarded and she died of pneumonia at the age of 13 months. Neuropathological examination revealed brachycephaly, micropolygyria and asymmetry of lateral ventricles. A histological examination showed a disarray of cortical lamination, and the existence of nerve cells in the white matter. These pathological findings showed a migration anomaly during brain maturation.

Autopsy↗

PubMedDate not supplied

An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA.

A 14-year-old boy with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is reported. He had suffered blepharoptosis and cataracts prior to the stroke-like episodes, and was thus reported in 1984 as having Kearns-Shy (Sayre) syndrome. After his death, an A-to-G mutation of the mitochondrial DNA (mtDNA) at bp 3243 was identified in cardiac muscle and the liver. Neuropathologically, multiple old and recent necrotic foci were observed in the gray and white matter of the cerebrum and cerebellum. These lesions were occasionally observed in areas outside of the distribution of major blood vessels of the brain. In the recent necrotic foci, neural loss and sponginess were observed while some neurons were preserved intact. The latter finding has not been described in MELAS and suggests that metabolic degeneration had occurred in the neurons of this patient. This is the first report of a confirmed 3243 mutation of the mtDNA in an autopsied MELAS case.

Acidosis, Lactic↗

PubMedDate not supplied

Thalamic lesions during the development period and their clinical correlation.

28 autopsy cases were investigated in which the thalamus was impaired in early life, i.e. prenatal, perinatal, and postnatal (under 1 year of age). The thalamus is vulnerable to brain damage in the perinatal and early postnatal period. Lesions in the thalamus are severe in the DM, PL and VPL, and moderate in the VL and pulvinar thalamus. The anterior nuclei and center median show little change. Many of the cases with athetoid movements have complicated thalamic lesions in addition to those of the basal ganglia. In one patient who showed athetosis as a sequela of encephalitis japonica, the VL and PL in the thalamus were involved severely; in contrast the basal ganglia revealed very slight changes.

Adolescent↗

PubMedDate not supplied

Neuropathological background of oculomotor disturbances in olivopontocerebellar atrophy with special reference to slow saccade.

Neuropathological findings responsible for abnormal eye movements in olivopontocerebellar atrophy (OPCA) are reported. The material consists of eight sporadic cases and two hereditary cases. The sporadic cases showed impaired smooth pursuit without exception. The hereditary cases showed slow saccade (slow eye movement). Two important neuropathological findings are noted: The first is a systemic degeneration of cerebellifugal oculomotor control (cerebello-fastigio-vestibulo-MLF (medial longitudinal fasiculus) and perihypoglossal nuclei) in both types. Furthermore, neuronal loss of the oculomotor nuclei (oculomotor, trochlear and abducens nuclei) was found only in the hereditary cases. The second is that the hereditary type had a combined degeneration of the zona reticulata of the substantia nigra, the superior colliculus and the pontomedullary reticular formation. A review of the literature showed that all the cases of spino-cerebellar degeneration with slow saccade were hereditary OPCA, and that almost all cases had primary nigral degeneration. The neuropathological background of the oculomotor disturbances in OPCA is discussed.

Aged↗