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Joseph Junewick, MD FACR
over 7 years ago
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ARSt Case Repository

MELAS

Case Detail

Anatomy: Brain-Spine
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Metabolic
Created: over 6 years ago
Updated: over 6 years ago
Tags: PEDS
Modality/Study Types: MR
Activities:
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History

8 year old with right hand weakness.


Case Images


Diagnosis

Mitochodrial Cytopathy – MELAS Phenotype

Findings

MR – Extensive vasogenic edema in the left cerebrum in a non-vascular distribution; no restricted diffusion. The right occipital signal disturbance is considerable smaller than examination performed several months earlier.

Discussion

MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, strokes) is a syndrome of inherited mitochondrial abnormalities. MELAS syndrome represents a group of systemic disorders that share clinical symptoms (strokes, strokelike events, nausea, vomiting, encephalopathy, seizures, short stature, headaches, muscle weakness, exercise intolerance, neurosensory hearing loss, and myopathy). Invasive procedures that may help establish the diagnosis of MELAS include quantification of lactic acid in serum and cerebrospinal fluid, presence of ragged red fibers on muscle biopsy, and an increased number of mitochondria in endothelial cells of small cerebral arteries. Imaging studies demonstrate areas of fluctuating signal disturbance in the gray and white matter predominantly in the occipitoparietal regions in a nonvascular distribution in the acute phase and atrophy in the chronic phase. Patients with MELAS usually appear healthy at birth with normal early development, then exhibit delayed growth, episodic vomiting, seizures, and recurrent cerebral injuries resembling stroke. These strokelike events, probably the result of a proliferation of dysfunctional mitochondria in the smooth muscle cells of small arteries, may give rise to either permanent or reversible deficits. The disease course is progressive with periodic acute exacerbation.

Reference

Cheon J, Kim I, Hwang Y et al. Leukodystrophy in Children: A Pictorial Review of MR Imaging Features. Radiographics 2002; 22:461-476.

Castillo M, Kwock L, Green C. MELAS Syndrome: Imaging and Proton MR Spectroscopic Findings. AJNR (1995); 16:233–239.



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