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Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

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Hypertrichosis in presymptomatic mitochondrial disease.

Fabian Baertling¹, Ertan Mayatepek, Felix Distelmaier

¹Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, Moorenstr. 5, 40225, Düsseldorf, Germany.

Journal of Inherited Metabolic Disease

|February 15, 2013

Summary

Leigh syndrome, a neurometabolic disorder, can manifest with distinct hypertrichosis. This finding in infants may indicate underlying SURF1 gene mutations, warranting further genetic analysis.

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Area of Science:

Neurology
Genetics
Dermatology

Background:

Leigh syndrome is a severe neurometabolic disorder characterized by oxidative phosphorylation defects.
It typically presents with neurological deficits and characteristic brain lesions.
Cutaneous manifestations can sometimes accompany the neurological symptoms.

Observation:

A case study of a one-year-old patient with Leigh syndrome is presented.
The patient exhibited distinct hypertrichosis (excessive hair growth).
This hypertrichosis was observed in an otherwise asymptomatic presentation.

Findings:

The patient was found to have pathogenic SURF1 gene mutations.
Hypertrichosis was identified as a potential cutaneous marker for Leigh syndrome.
The SURF1 gene is crucial for mitochondrial complex assembly and function.

Implications:

Distinct hypertrichosis may serve as an early indicator for Leigh syndrome.
Prompting SURF1 gene mutation analysis in suspected cases can aid in early diagnosis.
This highlights the importance of considering dermatological signs in diagnosing complex genetic disorders.