5-Fluorouracil Neurotoxicity in the Absence of Dihydropyrimidine Dehydrogenase Deficiency Case Report.

5 fluorouracil (5-FU)-related neurotoxicity is a rare and severe complication of 5-FU administration. Dihydropyrimidine dehydrogenase (DPD) deficiency is associated with an increased risk of serious adverse reactions due to its role in 5-FU metabolism. We report a case of acute reversible neurotoxicity with global areas of diffusion restriction in a patient with colorectal adenocarcinoma being treated with leucovorin calcium, 5-fluorouracil, and oxaliplatin (FOLFOX) without DPD deficiency following uridine triacetate administration.

Moyamoya Disease in a Young Female With Neurofibromatosis Type 1.

Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of the terminal portions of the internal carotid arteries (ICAs) and the development of a network of abnormal collateral vessels. This case depicts a 25-year-old African American female patient with neurofibromatosis type 1 (NF-1), whose initial hospital presentation occurred in a hypertensive emergency setting. Surveillance studies with magnetic resonance imaging (MRI) revealed multiple asymptomatic right cortical strokes. Genetic testing evidenced a novel, unique pathogenic variant on the NF-1 gene. The patient underwent combined bypass surgery first and then was placed on aspirin and a blood pressure control regimen. Our case illustrates the need for clinicians to include moyamoya disease in the list of differential diagnoses when encountering a young patient, without major risk factors, presenting with ischemic stroke. It should be considered even with no known history of previously diagnosed MMD or NF-1, as these pathologies may have yet to be evaluated in subclinical cases.

Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient.

Tetrasomy 18p is a rare genetic condition characterized by a supernumerary 18p isochromosome with two copies of the p arm of chromosome 18 causing patients to have an extra chromosome. Most cases are de novo; however, a few maternally inherited cases have been reported. The most commonly reported manifestations of this condition are developmental delay, cognitive impairments, muscle tone abnormalities, and dysmorphic facial features. This case details a new diagnosis of tetrasomy 18p in a 42-year-old adult who was initially diagnosed with cerebral palsy as a child. We compare the phenotypic traits of our patient with the ones reported in the literature.