Related Experiment Video
Updated: Jul 15, 2026

Robotic Duodenal Sleeve Resection for Gastrointestinal Stromal Tumor with Rare Exon 8 KIT Mutation Following Neoadjuvant Imatinib
Published on: April 3, 2026
Kocher-Debre-Semelaigne syndrome: a case report
Ifeoma C Anochie1, Barbara E Otaigbe
1Department of Pediatrics, University of Port Harcourt, Rivers State, Nigeria. anochieify@hotmail.com
Background:
Kocher-Debre-Semelaigne (KDS) syndrome is a myopathy of hypothyroidism associated with pseudohypertrophy in infancy or childhood. There are few reported cases of KDS syndrome in the literature.
Study Design:
We present a 5-year-old boy with poor growth and delayed dental and motor development. There was no family history. On examination he had coarse facies, large protruding tongue, athletic build, short stature and mental retardation. The diagnosis of KDS syndrome was based on laboratory and radiologic evidence of congenital hypothyroidism and muscle enlargement. He was started on L-thyroxine at the dose of 4ug/kg/day, and he has shown marked increase in alertness with regressing muscle bulk after 4 weeks of treatment. A short review of the literature is also presented.
Related Concept Videos
Barrett Esophagus-II: Clinical Manifestations and Management
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure entails...
Esophageal Strictures-II: Clinical Features and Management
Healthcare providers should gather a comprehensive medical history and conduct a physical examination for diagnosis. If esophageal stricture is...
Gastroesophageal Reflux Disease II: Clinical Features and Management
Clinical Manifestations
GERD presents itself in a multitude of ways, with symptoms varying from person to person. The hallmark symptoms are...
Other Disorders of Digestive System
Esophageal Perforation-II: Clinical Manifestations and Management
Clinical Manifestations:
Cholecystitis