Duchenne muscular dystrophy with Kocher-Debre-Semelaigne syndrome: a double jeopardy

As a very rare coincidence, our patient suffered from two different diseases with similar presentation which are DMD and KDSS. Subtle clinical clues of joint contractures and goitre helped us identify these unrelated co-existing diseases. An alternate diagnosis must be thought of when all clinical findings cannot be explained by a single disease.

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Publication Details

Journal
The Turkish Journal of Pediatrics
Published
2025-05-03
DOI
https://doi.org/10.24953/turkjpediatr.2025.5488
Primary Topic
Muscle Physiology and Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

Duchenne muscular dystrophy with Kocher-Debre-Semelaigne syndrome: a double jeopardy

Reena Gulati, Vaishnavi Sreenivasan, Pediredla Karunakar, Arumugom Archana
The Turkish Journal of Pediatrics
Muscle Physiology and Disorders
article

Duchenne muscular dystrophy with Kocher-Debre-Semelaigne syndrome: a double jeopardy

Reena Gulati, Vaishnavi Sreenivasan, Pediredla Karunakar, Arumugom Archana
article en

Abstract

As a very rare coincidence, our patient suffered from two different diseases with similar presentation which are DMD and KDSS. Subtle clinical clues of joint contractures and goitre helped us identify these unrelated co-existing diseases. An alternate diagnosis must be thought of when all clinical findings cannot be explained by a single disease.

The Turkish Journal of PediatricsVol. 67(2)
Jawaharlal Institute of Post Graduate Medical Education and Research (IN)
Openalex Percentile: Top 91%
Muscle Physiology and Disorders
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