Kocher Debre Semelaigne综合征-先天性甲状腺功能减退伴假性肌肉肥大1例

Nidha Fatima, Faraaz Adil, Habib G Pathan
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引用次数: 0

摘要

Kocher Debre semalaigne综合征(KDSS)是一种罕见的疾病,其表现为甲状腺功能减退并伴有假性肌肉肥大。这种综合征在有出生时甲状腺功能减退筛查项目的国家很少见。我们报告一个罕见的KDSS病例,早期诊断和治疗将导致许多症状的逆转。本病例的主要目的是启发儿科医生及时诊断和及时管理,以预防可避免的并发症。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A case report of Kocher Debre Semelaigne syndrome – Congenital hypothyroidism with pseudomuscular hypertrophy
Kocher Debre Semealaigne Syndrome (KDSS) is a rare condition with the manifestation of hypothyroidism associated with pseudomuscular hypertrophy. This syndrome is rare in countries with screening programs for hypothyroidism at birth. We are reporting a rare case of KDSS in which earlier diagnosis and treatment would result in the reversal of many symptoms. The main objective of presenting this case is to enlighten pediatricians about prompt diagnosis and timely management to prevent avoidable complications.
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