Sensory ataxic polyneuropathy unmasking late-onset urea cycle defect.
Clin Neurol Neurosurg
; 240: 108260, 2024 05.
Article
de En
| MEDLINE
| ID: mdl-38564992
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.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Déficit en ornithine carbamyl transférase
/
Conduction nerveuse
Limites:
Humans
/
Male
/
Middle aged
Langue:
En
Journal:
Clin Neurol Neurosurg
Année:
2024
Type de document:
Article
Pays d'affiliation:
Inde