Clinical Reasoning: A 22-Year-Old Woman With Episodic Weakness and Jaundice

Neurology. 2024 Nov 12;103(9):e210018. doi: 10.1212/WNL.0000000000210018. Epub 2024 Oct 4.

Abstract

We report a case of a 22-year-old woman who presented with recurrent episodes of quadriparesis, often accompanied by jaundice. Neurologic examination showed symmetrical proximal predominant quadriparesis with generalized hyporeflexia. The differential diagnoses included were of metabolic, inflammatory, genetic (including channelopathies), and autoimmune causes. Serum creatine phosphokinase levels and electrophysiologic studies helped narrow the differential. The final diagnosis was one that was responsive to vitamin supplementation. This report provides a systematic clinical approach to a case of episodic weakness with jaundice and respiratory failure.

Publication types

  • Case Reports

MeSH terms

  • Clinical Reasoning
  • Diagnosis, Differential
  • Female
  • Humans
  • Jaundice* / diagnosis
  • Jaundice* / etiology
  • Muscle Weakness / diagnosis
  • Muscle Weakness / etiology
  • Quadriplegia / diagnosis
  • Quadriplegia / etiology
  • Young Adult