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Neurologic presentations of mitochondrial disorders
A Nissenkorn1, A Zeharia, D Lev
1Pediatric Neurology Unit and Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.
Insights
Mitochondrial disorders frequently present with neurological symptoms in children, including developmental delays and seizures. Early and comprehensive evaluation is crucial for accurate diagnosis and management of these complex conditions.
Area of Science:
- Pediatric Neurology
- Mitochondrial Diseases
- Neurodevelopmental Disorders
Background:
- Mitochondrial disorders are a group of heterogeneous genetic conditions affecting cellular energy production.
- Neurologic manifestations are common in pediatric mitochondrial diseases, but their presenting features can vary widely.
- Early recognition of neurologic signs is vital for timely diagnosis and intervention.
Purpose of the Study:
- To describe the spectrum of neurologic presentations in children with suspected mitochondrial disorders.
- To identify common neurologic symptoms and their correlation with disease onset and severity.
- To emphasize the importance of a thorough neurologic examination and mitochondrial evaluation.
Main Methods:
- Retrospective chart review of 42 children with suspected mitochondrial disorders.
- Analysis of clinical presentations, neurologic findings, and diagnostic criteria.
- Classification of diagnoses into definite and probable mitochondrial disorders.
Main Results:
- All 42 patients exhibited nervous system involvement, with neurologic symptoms presenting initially in 28.
- Common manifestations included abnormal tone, seizures, developmental delay/mental retardation (24/42), and encephalopathy (25/42).
- Other findings included visual impairment (11/42) and hearing loss (7/42), while myopathy was less frequent (6/42).
Conclusions:
- Neurologic symptoms are a hallmark of mitochondrial disorders in children.
- A complex neurologic picture, particularly with multi-organ involvement, necessitates a comprehensive mitochondrial evaluation.
- Prompt diagnosis based on clinical presentation and diagnostic criteria aids in managing these progressive conditions.
Abstract:
This article describes the neurologic presentations of children with mitochondrial disorders. The charts of 42 children with highly suspect mitochondrial disorders were reviewed. Thirty-seven children were diagnosed as having definite mitochondrial disorders based on a suggestive clinical presentation and at least one accepted criteria, while in five patients the diagnosis remained probable. All patients had nervous system involvement, but it was the presenting symptom in 28 of 42. Eighteen children had normal intelligence and 24 had mental retardation or developmental delay at the onset of their disease. Twenty-five patients had either an acute regression or a progressive encephalopathy. The most frequent neurologic manifestations were abnormal tone, seizures, extrapyramidal movements, and autonomic dysfunction. The eyes were involved in 11 children. Nerve deafness was found in seven patients. Myopathy was found in only six patients. In conclusion, a complex neurologic picture, especially with other organ involvement, warrants a full mitochondrial evaluation.