Congenital Leigh's disease: Panencephalomyelopathy and peripheral neuropathy

Abstract

A dystrophic newborn girl (38th week of gestation) presented as a floppy infant with relapsing episodes of lactic acidosis and progressive cerebral deterioration. She died after serious apnoea at the age of 8 weeks. Neuropathological examination demonstrated widespread changes of Leigh's subacute polioencephalomyelopathy affecting the cerebral cortex, basal ganglia, mesencephalon and spinal cord. In addition, there was severe leukoencephalopathy of the cerebral hemispheres with sudanophilic tissue degregation, advanced axonal loss and reactive astrocytic gliosis. There was marked demyelination of the sciatic nerves. Electron-microscopical examination of the hypertrophic heart revealed pathological mitochondria with tubular inclusions suggestive of primary mitochondrial cardiomyopathy. Similar mitochondrial changes were not detected in the CNS and PNS. The complex of neuropathological alterations in this case is nevertheless consistent with a congenital variant of Leigh's disease.

Feeding Problems and Lactic Acidosis in a 10-Week-Old Boy

“…This case appears to be unique; it really does not resemble the case described as congenital Leigh disease by Seitz et al [20]. We would agree with DiMauro et al [12] that the only rational way of classify ing these disease is on the basis of the biochemical defect.…”

“…This typically presents with psychomotor deterioration and brainstem impairment, often resulting in ataxia and swallowing difficulties towards the end of the 1st year of life, although neonatal onset [19,20] and an adult form [17] of the disease have been recognized. The diagnosis is a pathological one based on capillary proliferation in the thalamus, basal ganglia, and brainstem with proliferation of glia and spongy degeneration -a picture which is remarkably similar to Wernicke's encephalopa thy.…”

Leigh's Disease ‐several Nosological Entities With an Identical Histopathological Complex?

“…From a clinical point of view, most reports-including the first one by Leigh (1951)-concern infantile cases, though juvenile and adult cases (e.g. Solheid, Stoupel & Martin, 1971;Sipe, 1973;Walter, Tassin & Brucher, 1981) and even congenital ones (Feigin & Kim, 1977;Seitz et al, 1984) have been described. From a genetic point of view, there are sporadic cases as well as familial ones and the mode of transmission seems unclear in some families.…”