Related Experiment Video
Updated: May 26, 2026
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Tolosa-Hunt syndrome in children
D E Benzohra1, N Damry, I Delpierre
1Department of Radiology, Queen Fabiola University Hospital for Children, Brussels, Belgium.
Summary
Tolosa-Hunt syndrome, a rare condition, was diagnosed in a 4-year-old girl with cavernous sinus involvement. Prompt corticosteroid treatment led to a remarkable recovery, highlighting the importance of imaging in diagnosis.
Area of Science:
- Neurology
- Radiology
Background:
- Tolosa-Hunt syndrome (THS) is a rare idiopathic inflammatory condition affecting the cavernous sinus.
- It typically presents with painful ophthalmoplegia.
Observation:
- A 4-year-old girl presented with left ophthalmoplegia, convulsions, and right hemiplegia.
- Imaging revealed left cavernous sinus inflammation and internal carotid artery occlusion.
Findings:
- Cross-sectional imaging, including CT and MRI, is crucial for diagnosing THS.
- Corticosteroid therapy demonstrated a spectacular response, averting invasive procedures.
Implications:
- Early diagnosis and treatment of THS with corticosteroids can lead to rapid clinical improvement.
- Distinguishing THS from other conditions like tumors or infections relies on careful imaging follow-up.
Related Concept Videos
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:43Sex Linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:22Lysosomal Hydrolases
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
01:30Toxidromes: Clinical Features
Toxidromes are specific patterns of symptoms resulting from toxic substance exposure. They help in the identification and treatment of poisoning. The symptoms of each toxidrome group indicate poisoning by a certain class of chemicals or drugs.1. Sympathomimetic: Stimulates the sympathetic nervous system. Symptoms include agitation, increased heart rate (HR), blood pressure (BP), respiratory rate (RR), temperature, and pupil size. Drugs like cocaine and amphetamines, along with tremors and...