Duchenne muscular dystrophy with Kocher-Debre-Semelaigne syndrome: a double jeopardy
Background. Duchenne muscular dystrophy (DMD) is a progressive X-linked dystrophinopathy with onset in early childhood. Affected individuals present predominantly with proximal lower limb weakness and pseudohypertrophy of calf musculature being a prominent sign, heralding the onset of contractures...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2025-05-01
|
| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/5488 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850245699416883200 |
|---|---|
| author | Arumugom Archana Pediredla Karunakar Vaishnavi Sreenivasan Reena Gulati |
| author_facet | Arumugom Archana Pediredla Karunakar Vaishnavi Sreenivasan Reena Gulati |
| author_sort | Arumugom Archana |
| collection | DOAJ |
| description |
Background. Duchenne muscular dystrophy (DMD) is a progressive X-linked dystrophinopathy with onset in early childhood. Affected individuals present predominantly with proximal lower limb weakness and pseudohypertrophy of calf musculature being a prominent sign, heralding the onset of contractures in the large joints of lower limbs. Kocher-Debre-Semelaigne syndrome (KDSS) refers to the muscular pseudohypertrophy that develops in children with long-standing hypothyroidism.
Case Presentation. We present an 11-year-old boy with progressive walking difficulty for two years and associated decrease in appetite and chronic constipation. Physical examination revealed mild soft goitre, proximal lower limb weakness, areflexia (except for preserved weak ankle reflex), soft hypertrophy of bilateral calf muscles and latissimus dorsi, with bilateral dynamic ankle joint contractures. Investigations showed moderately elevated total serum creatine phosphokinase (CPK) levels, elevated serum thyroid stimulating hormone (TSH), low free T4, normal free T3 and elevated serum anti-thyroid peroxidase and anti-thyroglobulin antibody titers. A diagnosis of hypothyroidism secondary to Hashimoto’s thyroiditis with Kocher-Debre-Semelaigne syndrome (KDSS) (thyroid myopathy) was made while multiplex ligation-dependent probe amplification confirmed DMD. He was started on steroids and levothyroxine. On follow up, he had improvement in activity, appetite and motor movements (North Star Ambulatory Assessment score 3 to 7).
Conclusion. 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.
|
| format | Article |
| id | doaj-art-0414c1443ce7461d99b8982f755f855e |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-0414c1443ce7461d99b8982f755f855e2025-08-20T01:59:22ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212025-05-0167210.24953/turkjpediatr.2025.5488Duchenne muscular dystrophy with Kocher-Debre-Semelaigne syndrome: a double jeopardyArumugom Archana0https://orcid.org/0000-0002-0547-6679Pediredla Karunakar1https://orcid.org/0000-0002-8347-3342Vaishnavi Sreenivasan2https://orcid.org/0009-0007-2118-3730Reena Gulati3https://orcid.org/0000-0002-6158-077XDepartment of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, IndiaDepartment of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, IndiaDepartment of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, IndiaDepartment of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India Background. Duchenne muscular dystrophy (DMD) is a progressive X-linked dystrophinopathy with onset in early childhood. Affected individuals present predominantly with proximal lower limb weakness and pseudohypertrophy of calf musculature being a prominent sign, heralding the onset of contractures in the large joints of lower limbs. Kocher-Debre-Semelaigne syndrome (KDSS) refers to the muscular pseudohypertrophy that develops in children with long-standing hypothyroidism. Case Presentation. We present an 11-year-old boy with progressive walking difficulty for two years and associated decrease in appetite and chronic constipation. Physical examination revealed mild soft goitre, proximal lower limb weakness, areflexia (except for preserved weak ankle reflex), soft hypertrophy of bilateral calf muscles and latissimus dorsi, with bilateral dynamic ankle joint contractures. Investigations showed moderately elevated total serum creatine phosphokinase (CPK) levels, elevated serum thyroid stimulating hormone (TSH), low free T4, normal free T3 and elevated serum anti-thyroid peroxidase and anti-thyroglobulin antibody titers. A diagnosis of hypothyroidism secondary to Hashimoto’s thyroiditis with Kocher-Debre-Semelaigne syndrome (KDSS) (thyroid myopathy) was made while multiplex ligation-dependent probe amplification confirmed DMD. He was started on steroids and levothyroxine. On follow up, he had improvement in activity, appetite and motor movements (North Star Ambulatory Assessment score 3 to 7). Conclusion. 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. https://turkjpediatr.org/article/view/5488Duchenne muscular dystrophyKocher-Debre-Semelaigne syndromedystrophinopathyhypothyroidismpseudohypertrophy |
| spellingShingle | Arumugom Archana Pediredla Karunakar Vaishnavi Sreenivasan Reena Gulati Duchenne muscular dystrophy with Kocher-Debre-Semelaigne syndrome: a double jeopardy The Turkish Journal of Pediatrics Duchenne muscular dystrophy Kocher-Debre-Semelaigne syndrome dystrophinopathy hypothyroidism pseudohypertrophy |
| title | Duchenne muscular dystrophy with Kocher-Debre-Semelaigne syndrome: a double jeopardy |
| title_full | Duchenne muscular dystrophy with Kocher-Debre-Semelaigne syndrome: a double jeopardy |
| title_fullStr | Duchenne muscular dystrophy with Kocher-Debre-Semelaigne syndrome: a double jeopardy |
| title_full_unstemmed | Duchenne muscular dystrophy with Kocher-Debre-Semelaigne syndrome: a double jeopardy |
| title_short | Duchenne muscular dystrophy with Kocher-Debre-Semelaigne syndrome: a double jeopardy |
| title_sort | duchenne muscular dystrophy with kocher debre semelaigne syndrome a double jeopardy |
| topic | Duchenne muscular dystrophy Kocher-Debre-Semelaigne syndrome dystrophinopathy hypothyroidism pseudohypertrophy |
| url | https://turkjpediatr.org/article/view/5488 |
| work_keys_str_mv | AT arumugomarchana duchennemusculardystrophywithkocherdebresemelaignesyndromeadoublejeopardy AT pediredlakarunakar duchennemusculardystrophywithkocherdebresemelaignesyndromeadoublejeopardy AT vaishnavisreenivasan duchennemusculardystrophywithkocherdebresemelaignesyndromeadoublejeopardy AT reenagulati duchennemusculardystrophywithkocherdebresemelaignesyndromeadoublejeopardy |