Sensory ataxic polyneuropathy unmasking late-onset urea cycle defect.
Clin Neurol Neurosurg
; 240: 108260, 2024 05.
Article
em 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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença da Deficiência de Ornitina Carbomoiltransferase
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Condução Nervosa
Limite:
Humans
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Male
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Middle aged
Idioma:
En
Revista:
Clin Neurol Neurosurg
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Índia