Case report. Kocher-Debre-Semelaigne syndrome with pericardial effusion.

Department of Pediatrics, Seth G.S. Medical College and K.E.M. Hospital, Parel, Mumbai, India.
Indian Journal of Medical Sciences 10/2007; 61(9):527-30. DOI: 10.4103/0019-5359.34522
Source: PubMed


We report a 10-year-old female child with hypothyroidism and limb muscle pseudohypertrophy (i.e. Kocher-Debre-Semelaigne syndrome) with pericardial effusion. The child presented with generalized swelling, breathlessness and difficulty in walking and in getting up from sitting position (of chronic duration). She had bradycardia, dull facies, marked hypertrophy of both calf muscles and nonpitting edema of legs. Pericardial effusion was detected clinically and confirmed on investigations. Muscle pseudohypertrophy was a striking feature and hypothyroidism was confirmed on thyroid studies. The response to thyroxine replacement was excellent, with resolution of the pericardial effusion and clinical improvement. The unusual presence of pericardial effusion in Kocher-Debre-Semelaigne syndrome is discussed in the report.

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Available from: Milind S Tullu, Sep 30, 2015
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    • "Its pathogenesis has not been established yet and may be present in several types of hypothyroidism [1]. An important component of the KDS syndrome is myopathy, which in this case may be connected with the complaints of asthenia and the increase of CPK levels, often altered under stress, and lesion in the skeletal musculature, as well as aspartate aminotransferase and alanine aminotransferase , which may change during the course of hypothyroidism [1]. The thyroid hormone acts in nearly all aspects of the metabolism. "
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    ABSTRACT: Kocher-Debré-Sémélaigne syndrome is a rare disease with little literature, which develops with myopathy in infancy associated with neuromuscular alterations, polymyositis with symmetrical proximal muscle weakness, pseudohypertrophy, muscular rigidity and spasms, exercise intolerance, myxoedema, short stature, and cretinism. Male patient aged 18 years old, 1.52 m in height, admitted in the General Hospital of Triângulo Mineiro Federal University on November 11, 2003, complaining of intense diffuse abdominal pain like severe cramps, without triggering factors, associated with asthenia and hyporexia. This seems to be one of the few reports of KDS syndrome diagnoses by autopsy, where alterations in the thyroid gland connected with hypotrophy and probable congenital hypothyroidism were described and resulted in complications such as disseminated intravascular coagulation and hemophagocytic syndrome with fast progression to death of an 18-year-old patient.
    Annals of diagnostic pathology 02/2011; 16(1):54-8. DOI:10.1016/j.anndiagpath.2010.11.004 · 1.12 Impact Factor
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    • "This is reported in 80% of the hypothyroidism even with the absence of muscle involvement and their level normalize on correction of hypothyroidism. An unusual case presentation of KDSS with presence of pericardial effusion with complete resolution of the pericardial effusion and clinical improvement in response to thyroxin replacement has also been reported (Dharaskar et al, 2007). "
    The Journal of the Association of Physicians of India 03/1979; 27(2):171-4.
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    ABSTRACT: POU1F1 (Pit-1; Gene ID 5449) is an anterior pituitary transcriptional factor, and POU1F1 mutation is known to cause anterior pituitary hypoplasia, growth hormone and prolactin deficiency and various degree of hypothyroidism. We report here a patient who presented with growth failure and central hypothyroidism since early infancy. However, treatment with thyroxine gave no effect and he subsequently developed calf muscle pseudohypertrophy (Kocher-Debre-Semelaigne syndrome), elevation of creatinine kinase, dilated cardiomyopathy and pericardial effusion. Final diagnosis was made by combined pituitary function test and sequencing analysis that revealed POU1F1 gene C.698T > C (p.F233S) mutation. The rarity of the disease can result in delayed diagnosis and treatment.
    Journal of the Formosan Medical Association 01/2011; 110(1):58-61. DOI:10.1016/S0929-6646(11)60009-0 · 1.97 Impact Factor
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