AI Article Synopsis
- A 63-year-old man with type 2 diabetes and a history of hepatic encephalopathy presented with lower limb weakness, sensory issues, and mood swings, alongside a family history of mental disorders.
- Nerve conduction studies revealed demyelinating polyradiculoneuropathy, while MRI indicated thickened cranial and lumbosacral nerves; he was initially treated for chronic inflammatory polyneuropathy.
- After developing encephalopathy and an elevated serum ammonia level, further tests pointed to ornithine transcarbamylase (OTC) deficiency, leading to successful treatment with hemodialysis and dietary changes.
Article Abstract
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.
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| http://dx.doi.org/10.1016/j.clineuro.2024.108260 | DOI Listing |
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