Sensory ataxic polyneuropathy unmasking late-onset urea cycle defect.

Autor: Kanth RK; Department of Neurology, All India Institute of Medical Sciences, Jodhpur, India., Agrawal N; Department of Neurology, All India Institute of Medical Sciences, Jodhpur, India., Patel P; Department of Neurology, All India Institute of Medical Sciences, Jodhpur, India., Arora A; Department of Neurology, All India Institute of Medical Sciences, Jodhpur, India., Chaturvedy M; Departments of Neurology, Nephrology, All India Institute of Medical Sciences, Jodhpur, India., Tiwari S; Departments of Neurology, Nephrology, Diagnostic and Interventional Radiology, All India Institute of Medical Sciences, Jodhpur, India., Aggarwal D; Departments of Neurology, Nephrology, Diagnostic and Interventional Radiology, and Pathology, All India Institute of Medical Sciences, Jodhpur, India., Panda S; Department of Neurology, All India Institute of Medical Sciences, Jodhpur, India. Electronic address: samhitapanda@yahoo.com.
Jazyk: angličtina
Zdroj: Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2024 May; Vol. 240, pp. 108260. Date of Electronic Publication: 2024 Mar 26.
DOI: 10.1016/j.clineuro.2024.108260
Abstrakt: A 63-year-old man with type 2 diabetes mellitus, alcohol consumption in moderation, and three episodes of hepatic encephalopathy presented with symmetrical lower limb distal weakness, sensory ataxia, thickened palpable nerves, mood disturbances for seven years, and a family history of schizophreniform disorders. Nerve conduction studies showed demyelinating sensorimotor polyradiculoneuropathy. CSF analysis showed mild albumino-cytological dissociation. MRI brain and lumbosacral plexus showed thickened fifth cranial nerves and lumbosacral roots. He was treated with steroids for a provisional diagnosis of chronic inflammatory polyneuropathy and became encephalopathic. EEG showed triphasic waves. Serum ammonia was 201 micrograms/dL. Further evaluation suggested ornithine transcarbamylase (OTC) deficiency. The patient underwent hemodialysis with a low protein diet, rifaximin, and sodium benzoate, with subsequent recovery.
Competing Interests: Declaration of Competing Interest None.
(Copyright © 2024 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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