Adult form of Leigh's disease: a clinico pathological case with CT scan examination.

Abstract

SUMMARY The clinical and pathological findings of a 31-year-old woman, in whom the diagnosis of Leigh's disease was made, are reported. CT scan examination with contrast enhancement showed symmetrical areas of low density, in both thalami, anterior limbs of internal capsules and corpus callosum. Longstanding chronic lesions involved the optic chiasma and the cerebral peduncles and consisted of myelin loss, status spongiosus, astrocytic gliosis and marked capillary proliferation. The neurons were spared. In the basal ganglia, internal capsules and corpus callosum, these lesions were more recent and consisted of focal necrosis, perivascular oedema and few lymphocytic perivascular cuffings.Subacute necrotising encephalomyelopathy (Leigh's disease) rarely occurs in adults: to our knowledge only 16 pathologically studied cases have been reported'-9 and only one of these had computed tomography.' This paper reports the clinical and pathological findings of an adult case in which the diagnosis of Leigh's disease was made. Case reportA 31-year-old Chilean woman was admitted to hospital because of visual impairment and increasing stupor. The family history was difficult to obtain because the patient lived alone, did not speak French well and was stuporous. She only could say that her mother was epileptic. The patient was not alcoholic. At the age of 21 years, she had suffered from an episode of confusion which lasted one week and resolved spontaneously. Two months before death, she developed intellectual slowing, behavioural abnormalities and impairment of recent memory. One month later, she experienced transient fever, headache and nausea and over the following weeks, her mental state worsened; she had visual hallucinations, became stuporous and was admitted to the hospital. The patient could answer when questioned; she frequently yawned and made chewing movements. Neurological examination revealed ptosis

Mechanisms of unexpected death and autopsy findings in Leigh syndrome (subacute necrotising encephalomyelopathy)

“…Neuronal sparing may occur. 16 Adequate documentation of these lesions requires formal neuropathologic assessment, as it is possible with examination of the fresh brain that subtle findings of disease may be missed. The postmortem findings and clinicopathological correlation have been summarised by Vogel 10 .…”

Mitochondrial Encephalomyopathy with Sleep Apnea

“…The lesions in brainstem and bilateral globi pallidi by MRI, SEP, BAEP and brain CT were compatible with those in Leigh's syndrome, which is known to be associ ated with respiratory abnormalities [4], In the adult form of Leigh's syndrome [9,11,17,18], optic atrophy and clonic jerks are common, whereas ataxia and oculomotor paresis are seldom observed among the variable clinical pictures. Our case had cerebellar ataxia, but suffered nei ther from optic atrophy nor clonic seizure.…”

Leigh Syndrome: Serial MRI Findings

“…One report stated that on follow-up contrast-enhanced scans, the peripheral portion of a lesion in the basal ganglia was enhanced (14). In another case described by Gray et al (15), low density areas in the thalami and anterior lim bs of internal capsules showed contrast enhancement on CT scans. It seems that in Leigh syndrome, brain lesions are not enhanced during their acute stage, but can be enhanced during the subacute stage.…”