Related Experiment Video
Updated: Dec 9, 2025

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
A rare case of pediatric Tolosa-Hunt syndrome
Preet Sohal1, Jana Bregman2, Stacey Stokes3
1George Washington University School of Medicine & Health Sciences, Washington, DC.
Abstract:
Tolosa-Hunt syndrome is a rare disorder characterized by granulomatous inflammation involving the cavernous sinus, superior orbital fissure, and/or orbit with no additional underlying cause. Tolosa-Hunt syndrome most often presents with painful ophthalmoplegia involving one or multiple cranial nerves. Here we report the case of an 8-year-old girl who presented, atypically, without the hallmark finding of pain. This case of pediatric Tolosa-Hunt syndrome is the only reported example to date lacking what is considered its pathognomonic feature and thus brings to light the clinical variability of this already inconspicuous disorder.
Related Concept Videos
Pleiotropy
Inborn Errors of Metabolism
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Incomplete Dominance
Sex-linked Disorders
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

