Lingual thyroid presenting as Kocher‐Debre‐Semelaigne syndrome

Chauhan, Lokesh; Kumar, Parveen; Chauhan, Suneel; Sood, Arvind

doi:10.1111/jpc.13213

Cited by 2 publications

(2 citation statements)

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“…Our case has got primary congenital hypothyroidism mostly due to dyshormonogenesis. Unlike most reported cases, hypertrophy was mainly in the calves and did not involve the shoulder muscles [1,2]. In agreement with the literature, the case demonstrated sound response to thyroxin treatment [5].…”

Section: Discussionsupporting

confidence: 89%

“…Age of presentation varies from 18 months to 10 years; however, there are anecdotal reports on KDSS in the neonatal period [1]. Though KDSS affects both sexes, it is more common in male children [2] and may easily be confused with primary muscle disorders unless the physician is aware of the condition. KDSS is rare in countries with neonatal screening program (NSP), as congenital hypothyroidism is diagnosed and treated early [3,4].…”

Section: Introductionmentioning

confidence: 99%

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A rare complication of untreated congenital hypothyroidism in a Sudanese child

Othman

2018

Sudan J Paed

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The clinical features and management of a 7-year-old boy who presented with Kocher-Debre-Semelaigne syndrome (KDSS) are described. KDSS is a rare complication of the long-standing, untreated congenital hypothyroidism. It can be encountered in clinical practice in countries where neonatal screening program of hypothyroidism is not yet applied. The condition could clinically mimic muscular dystrophy, and should be recognized, as it is a reversible condition upon simple and straightforward treatment by thyroxin.

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Section: Discussionsupporting

confidence: 89%