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Acute blindness.

H Abboud¹, C Sabbagh

¹Department of Neurology, Hotel Dieu de France Hospital, Faculty of Medicine, Saint-Joseph University, Beirut, Lebanon. halimabboud@yahoo.fr

Emergency Medicine Journal : EMJ

|October 29, 2008

Summary

This summary is machine-generated.

A 15-year-old experienced cortical blindness due to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). This case highlights unusual initial symptoms of MELAS, prompting discussion on underlying mechanisms.

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Area of Science:

Neurology
Genetics
Mitochondrial Diseases

Background:

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare genetic disorder.
MELAS typically presents with stroke-like episodes, seizures, and developmental delay.

Observation:

A 15-year-old male presented with initial symptom of cortical blindness.
He experienced fluctuating consciousness, severe occipital headache, nausea, and vomiting.
MRI revealed occipital lobe abnormalities, and EEG showed posterior epileptic discharges.

Findings:

Cortical blindness as the initial presentation of MELAS is uncommon.
The case demonstrates a unique neurological manifestation of this mitochondrial disorder.
The exact mechanisms of stroke-like episodes and seizures in MELAS remain unclear.

Implications:

This case expands the spectrum of initial clinical presentations for MELAS.
Further research is needed to elucidate the pathophysiology of MELAS-related neurological events.
Understanding these mechanisms may lead to improved diagnostic and therapeutic strategies for MELAS.