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Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity
Boby Varkey Maramattom1, Rajat Raja2, Anuroop Balagopal2
1Department of Neurology, Aster Medcity, Cheranelloor, Kochi, Kerala, India.
Annals of Indian Academy of Neurology
|August 30, 2016
Summary
Adult onset Arginase deficiency (ARD), a rare urea cycle disorder, can present with encephalopathy. This case highlights unusual midbrain MRI findings resembling a moustache in an adult patient with ARD.
Area of Science:
- Biochemistry
- Neurology
- Genetics
Background:
- Urea cycle disorders (UCDs) are rare genetic metabolic diseases causing hyperammonemia and encephalopathy.
- Arginase deficiency (ARD) is the rarest UCD, typically presenting in childhood with neurological symptoms like spastic diplegia or seizures.
Observation:
- This report details the first documented case of adult-onset Arginase deficiency.
- The patient presented with acute encephalopathy, a highly unusual manifestation for adult ARD.
Findings:
- Diffusion-weighted MRI revealed distinctive "moustache-like" signal abnormalities in the midbrain.
- These imaging findings are novel and associated with this rare metabolic disorder.
Implications:
- This case expands the clinical presentation spectrum of Arginase deficiency.
- It underscores the importance of considering rare metabolic disorders in adult encephalopathy, even with atypical imaging.
- Highlights the need for advanced neuroimaging in diagnosing rare genetic conditions.
