Year: 2025
Type: article
Study design: Case Report
Abstract: Kocher-Debre-Semelaigne syndrome is a rare hypothyroid myopathy in children, characterized by muscle pseudohypertrophy and associated systemic symptoms. We report the case of a 5-year-old girl who presented with progressive muscle weakness, cold intolerance, dry skin, and constipation over seven months with prominent calf muscle hypertrophy, proximal muscle weakness, and hypotonia. This case underscores the importance of prompt diagnosis and treatment of KDSS to reverse symptoms and avoid misdiagnosis as a primary muscle disorder. Awareness is crucial for timely intervention and improved patient outcomes as hypothyroidism can be treated with thyroxine replacement therapy.
Authors: Nishmith Rai, Mumtaz Sharif, Rajdeep Pal, Vinaykumar Hedaginal, Rachna Mehta
Institution: D.Y. Patil University
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4406860838