Clinical Reasoning: A Young Adult Man With Cognitive Changes, Gait Difficulty, and Renal Insufficiency.
Brian J StammRebecca M DiBiaseGlenn Ryan HarrisHagop KaprielianNupur BrahmbhattAllan D WuJoshua BakerEric M LiottaPublished in: Neurology (2022)
A 22-year-old right-handed man with recently diagnosed gout and renal insufficiency presented with three months of progressive gait instability and cognitive changes. He initially presented to an outside institution and underwent a broad workup, but an etiology for his symptoms was not found. On subsequent presentation to our institution, his exam revealed multi-domain cognitive dysfunction, spasticity, hyperreflexia and clonus. A broad workup was again pursued and was notable for an MRI of the brain revealing cortical atrophy advanced for his age, bland cerebrospinal fluid, and a weakly positive serum acetylcholine receptor ganglionic neuronal antibody of unclear significance. The history of gout and inadequately explained renal insufficiency led to a workup for inborn errors of metabolism, including urine amino acid analysis, which revealed a homocysteine peak. This finding prompted further evaluation, revealing markedly elevated serum homocysteine and methylmalonic acid and low methionine. He ultimately developed superficial venous thromboses and a segmental pulmonary embolism, as well as clinical and electrographic seizures. He was initiated on appropriate treatment, and his symptoms markedly improved. The case serves as a reminder to include late-onset inborn errors of metabolism in the differential for young adult patients with onset of neurological, psychiatric, renal, and thromboembolic symptoms.
Keyphrases
- pulmonary embolism
- late onset
- amino acid
- young adults
- cerebrospinal fluid
- early onset
- single cell
- uric acid
- sleep quality
- inferior vena cava
- mental health
- cerebral palsy
- computed tomography
- case report
- white matter
- adverse drug
- physical activity
- brain injury
- blood brain barrier
- combination therapy
- middle aged
- depressive symptoms
- subarachnoid hemorrhage
- children with cerebral palsy