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Infant onset subacute necrotizing encephalomyelopathy (Leigh's disease)
1Department of Paediatrics and Child Health, Flinders Medical Centre, Bedford Park, Australia.
Insights
Subacute necrotizing encephalomyelopathy (SNE) in infants presents with seizures and cortical blindness. Measuring blood or cerebrospinal fluid lactate is crucial for diagnosing SNE in infants with unexplained symptoms.
Area of Science:
- Pediatric Neurology
- Neurodegenerative Disorders
- Metabolic Myelopathies
Background:
- Subacute necrotizing encephalomyelopathy (SNE), also known as Leigh syndrome, is a severe maternally inherited mitochondrial disease.
- Early diagnosis is critical for management, but clinical presentation can be variable, especially in infants.
- This study reviews cases of SNE with onset under 12 months to clarify diagnostic challenges.
Observation:
- Six infants with proven or probable SNE, diagnosed between 1975-1990, were analyzed.
- Prominent initial symptoms included seizures and cortical blindness, more frequent than previously reported.
- Respiratory abnormalities and developmental delay were also common clinical features.
Findings:
- Standard neurophysiological tests (VEP, BAER, EEG) were not diagnostic.
- Brain imaging (CT scans) showed abnormalities in 3 of 4 cases, including basal ganglia lesions and brain atrophy.
- Elevated blood or cerebrospinal fluid lactate levels were key indicators, aiding diagnosis in 4 cases.
Implications:
- Lactate level measurement in blood or CSF should be a routine investigation for infants presenting with unexplained seizures, cortical blindness, or apnea.
- Increased awareness of atypical presentations of SNE in infancy is necessary for timely diagnosis.
- Early identification of SNE can guide supportive care and genetic counseling for affected families.
Abstract:
We reviewed six cases of proven or probable subacute necrotizing encephalomyelopathy with an onset under 12 months of age. All children had been investigated at the Adelaide Children's Hospital in the period 1975-90. Seizures (five of six) and cortical blindness (five of six) were more prominent clinical features at presentation than the literature would suggest, while respiratory abnormalities and developmental delay were also frequent. Flash visual evoked responses, brain-stem auditory evoked responses, and the interictal electroencephalogram did not contributed to diagnosis. Computerized tomography brain scans were abnormal in three of four cases with typical basal ganglia lesions in one case and brain atrophy in two cases. The diagnosis was suspected in four cases with raised blood or cerebrospinal fluid lactate concentrations. The importance of obtaining a blood or cerebrospinal fluid lactate in all infants with unexplained seizures, cortical blindness or apnoea is emphasized.