Atipicidad en el hipotiroidismo congénito: síndrome de Kocher-Debré-Semelaigne. Reporte de caso / Atypicality in congenital hypothyroidism: Kocher-Debré-Semelaigne. Case report

El síndrome de Kocher Debré Semelaigne (SKDS) se describe dentro de las formas clínicas atípicas asociadas al hipotiroidismo congénito (HC) severo, no tratado y de larga evolución, con manifestaciones de pseudohipertrofia muscular difusa y debilidad muscular predominantemente proximal, reversible al reemplazo con tiroxina. Es raro en países con programas de pesquisa neonatal. Objetivo: reportar el caso de un niño con diagnóstico de HC por disembriogenesis (atireosis), que se mantuvo con mal control de la enfermedad durante el primer año de vida y manifestaciones miopáticas desde la etapa neonatal. Resultados: se confirma el diagnóstico a través de estudios específicos, con evidencias de patrones miopáticos característicos. Se logra regresión clínica parcial a los nueve meses de mantener estabilidad de la TSH y las hormonas tiroideas (HT), coincidiendo con la normalización de la enzima de músculo creatinfosfoquinasa (CPK). A los 12 años de seguimiento, mantenía ligera hipertrofia de la musculatura de las extremidades superiores, dorsales y glúteos, a pesar de mantenerse eutiroideo. Conclusiones: la presencia de hipertrofia muscular debe considerarse un dato clínico de sospecha de hipotiroidismo, aun con la implementación de los programas de pesquisa neonatal. Es posible la regresión parcial de la pseudohipertrofia muscular con el restablecimiento de la función tiroidea. Se debe tomar en cuenta en el diagnóstico diferencial de otras miopatías primarias

Kocher-Debré-Semelaigne Syndrome (SKDS) is described within the atypical clinical forms associated with severe, untreated and long-standing congenital hypothyroidism with manifestations of diffuse muscle pseudohypertrophy and predominantly proximal muscle weakness, reversible to replacement with levothyroxine. objective: To report the case of a child with congenital hypothyroidism due to disembriogenesis (atyreosis), who remained with poor control of the disease during the 1st year of life and myopathic manifestations from de neonatal stage. Results: The diagnosis is confirmed through specific studies, with evidence of characteristic myopathic patterns. Partial clinical regression is achieved 9 months after maintaining stability of TSH and thyroid hormones, coinciding with the normalization of the muscle enzyme creatine phosphokinase (CPK). At 12 years of follow-up, he maintained slight hypertrophy of the muscle of the upper extremities, dorsal and buttocks, despite remaining euthyroid. Conclusions: The presence of muscular hypertrophy should be considered a clinical finding of suspected hypothyroidism, even with the implementation of neonatal screening programs. Partial regression of muscle pseudohypertrophy is possible with restoration of thyroid function, and should be taken into account in the differential diagnosis of other primary myopathies

Unusual manifestations associated with primary hypothyroidism: Experience from a tertiary care health center / Journal of the ASEAN Federation of Endocrine Societies

@#Hypothyroidism is a commonly diagnosed endocrine disorder. Typical signs and symptoms of hypothyroidism include lethargy, cold intolerance, hoarseness, dry skin, constipation, delayed relaxation phase of deep tendon reflexes, and bradycardia. However, some patients may present with unusual signs and symptoms of hypothyroidism which can result in diagnostic confusion. Besides the usual clinical manifestations of primary hypothyroidism, some signs are very unusual and not commonly recorded. The treating physician may not be familiar with them. Hence, timely identification of these unusual presentations is very important for early intervention and treatment.

“Kocher debre semelaigne syndrome” : a case report.

We report a case of 12 year old male child with Kocher-Debré-Semelaigne syndrome (KDSS) which is a rare clinical presentation of hypothyroidism associated with muscular pseudo-hypertrophy. The main differential diagnosis is Duchenne Muscular Dystrophy. Pseudomuscular hypertrophy of KDSS is an acquired type of myopathy associated with severe and long standing hypothyroidism and is reversible with thyroxine supplement.

Serum creatine kinase activity in untreated primary hypothyroid children.

Objectives To determine association between primary hypothyroidism and serum creatine kinase (CK) activity in children. Design and Setting Prospective study of patients seen at university paediatric unit, Galle for a period of 4 years starting from January 1998. Method Primary hypothyroidism was confirmed by presence of elevated serum thyroid stimulating hormone and low thyroxine for age. All newly diagnosed patients with primary hypothyroidism were tested for serum CK activity. Levels were compared with serum CK activity in normal euthyroid children. Serum CK levels were repeated 6 weeks after starting thyroxine therapy. Results 19 children presented with primary hypothyroidism during study period. All had elevated serum CK levels. 2 patients showed clinical evidence of muscular hypertrophy. There were 7 neonates with congenital hypothyroidism. Conclusions: Elevated levels of CK activity were seen in all children with untreated primary hypothyroidism in this series. CK activity became normal 4-6 weeks after starting therapy. Hence elevated serum CK could be used as an indicator for diagnosis of untreated hypothyroidism or to assess adequacy of therapy in primary hypothyroidism.