Kocher-Debre-Semelaigne Syndrome Research Articles

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.

Pseudo Muscular Hypertrophy Secondary to Kocher Debre Semelaigne Syndrome

We report a case of a 7 year 8 month old female child brought by parents with concern of hardening of muscles of calf and forearm since few months. On inquiry, she has lethargy, feeling of coldness, constipation, dry skin, hoarseness of voice and increased sleep. On examination, pulse rate was 68 beats/min, height was 89cms (expected is 123cms) and weight was 12.9 kgs (expected is 22.5kgs). She had periorbital edema, facial puffiness, coarse facial features, dry skin and hypertrophy of calf and forearm muscles. She did not have obvious goiter. Based on the clinical feature and examination findings, pseudo muscular hypertrophy secondary to Kocher Debre Semelaigne syndrome was suspected. Endocrine workup revealed primary overt hypothyroidism with elevated serum TSH (>150; reference range 0.4–4.0uIU/ml), low T3 (14.1ng/dl; reference range 82–179ng/dl) and low T4 (<0.3; reference range 5.2 –12.5ug/dl). Child was treated with thyroxin replacement as 50microgram once a day. She showed a rapid clinical improvement within few weeks and some regression in muscle hypertrophy was seen.

Pseudohypertrophic myopathy in a child with hypothyroidism (Kocher—Debre—Semelaigne syndrome)

The Kocher-Debre-Semelaigne syndrome (KDSS) is a rare disease that clinically manifests as hypothyroidism and muscle pseudohypertrophy of the trunk and extremities. KDSS occurs mainly in countries where there is no screening for congenital hypothyroidism; however, this syndrome can develop when there is acquired hypothyroidism. In this syndrome, muscle hypertrophy is false (pseudohypertrophy); it is not accompanied by an increase in muscle strength but, on the contrary, leads to a decrease in muscle strength and the development of muscle hypotension. Increased levels of creatinine phosphokinase (CPK) and lactate dehydrogenase (LDH) are the characteristic laboratory sign of myopathy in this syndrome. The signs of hypothyroidism and muscle pseudohypertrophy are reduced by levothyroxine therapy. Indicators of the final height in the case of delayed treatment may remain poor. The clinical signs characteristic of the disease, especially in the presence of a nonspecific clinical picture of hypothyroidism, enable an early diagnosis and timely treatment, which emphasizes the importance of doctors’ awareness of this syndrome.

Cretinism muscular hypertrophy: An unorthodox reflection

The Kocher Debre Semelaigne Syndrome (KDSS) is also known as cretinism muscular hypertrophy. It is an unusual presentation in intellectually deficit children, commonly associated with congenital or iatrogenic hypothyroidism. The incidence of KDSS is less than 10%. It is more common in males, consanguineous marriage and age range from 18 months to 10 years [4]. The creatinine phosphokinase (CPK) is usually elevated [5]. It might be misdiagnosed particularly when other classical features of hypothyroidism are not dominant at first presentation. We present a case of 15-year-old intellectually deficit female. Her epilepsy had been managed on phenytoin for a decade. She had rigidity, leg cramps, malaise, oliguria, fever, myxedema, delayed deep tendon reflexes, calf muscle hypertrophy and agitation. Her agitation was controlled by haloperidol, which worsened the condition by altering her mental status. The patient was initially managed on line of Neuroleptic Malignant Syndrome due to raised CPK of 40,680 IU/L and mixed presentation. Nevertheless, no significant change was noticed until thyroid profile was done to exclude alternative resources. Thyroid stimulating hormone (TSH) was 74.5 IU, free T3 1.22 ng/dL, and free T4 0.43 ng/dL. Thyroxine was started along with change in anti-epileptic and recovery was observed within five days. This case report highlights the inconsistent finding from previously reported cases of KDSS. The female gender, non-consanguineous marriage, slightly delayed onset with primarily neuromuscular symptoms, and raised CPK is not the frequent demonstration in KDSS. On parallel, thyroid work-up is not routinely done, which can lead to misdiagnosis and mismanagement.References not available.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Kocher Debre Semelaigne Syndrome: A Rare Case Report with Orofacial Manifestations

Kocher Debre Semelaigne Syndrome is a rare syndrome with clinical manifestation of hypothyroidism associated with pseudomuscular hypertrophy. Very few cases have been reported on kocher-debre semelaigne syndrome in the literature with the incidence reported to be less than 10%. As per our knowledge; until now, only one case of oro-facial manifestations has been reported. Here we report one such case of Kocher debre semelaigne syndrome in an 11 year old boy, showing features of macroglossia, multiple impacted teeth, puffed lips and anterior open bite.

Kocher-Debre-Semelaigne syndrome: A case report

Myopathy and pseudohypertrophy of muscles accompanied by acquired or congenital hypothyroidism is called Kocher-Debre-Semelaigne syndrome. Kocher-DebreSemelaigne syndrome is a rare disorder which is often presented by symmetrical proximal muscle weakness, accompanied by polymyositis, pseudohypertrophy in muscles, muscle rigidity, involuntary muscle contractions, exercise intolerance, myxedema, failure to thrive and neuromuscular findings like cretinism. In this case report, we present a 5-year-old girl with delayed diagnosis of hypothyroidism and poor compliance to treatment. We suspected Kocher-Debre-Semelaigne syndrome when she developed difficulty in climbing stairs and walking. She had bilateral pseudohypertrophy of gastrocnemius and quadriceps muscles of the lower extremities, elevation in serum creatine kinase levels and physical examination findings relevant with myopathy as hypoactive deep tendon reflexes. It was emphasized that this syndrome should not to be overlooked in cases with pseudohypertrophy due to hypothyroidism.

Kocher-Debre-Semelaigne Syndrome: Hypothyroid Muscular Pseudohypertrophy—A Rare Report of Two Cases

Kocher-Debre-Semelaigne syndrome (KDSS) is a rare association of muscular pseudohypertrophy and long-standing moderate-to-severe hypothyroidism in the pediatric age group. It may be confused with primary muscle disorders, lest one is cautious enough to investigate for hypothyroidism. The striking clinical features, availability of a simple treatment and a good prognosis for the condition makes it worthwhile to report the case so that all practitioners be aware of the condition and its management.

Kocher-Debre-Semelaigne syndrome

Thyroid hormone deficiency is an unusual cause of acquired myopathy, although complaints of muscular weakness can be present in up to 40% of patients. Among the patients with myopathy, <10% of the patients develop pseudomuscular hypertrophy known as Kocher-Debre-Semelaigne syndrome (KDS) in children and Hoffmann syndrome in adults. We report a case of autoimmune hypothyroidism where weakness and growth failure were predominant complaints, and hypertrophied calf muscles were easily noticeable. Although rare, KDS remains an easy to diagnose and treatable cause of reversible myopathy and therefore, must be considered in differential diagnosis of hereditary myopathies.

Kocher Debre Semelaigne syndrome and associated orofacial aspects: report of a case

Myopathy and muscular pseudohypertrophy associated with severe congenital hypothyroidism has been described as Kocher Debre Semelaigne syndrome, which is a rare disorder with only a few previously published reports. However, none of these reports have described the orofacial aspects of this syndrome. Here we report one such case, which may provide valuable information to specialists in oral healthcare regarding the associated orofacial aspects.

Cretinism with muscular hypertrophy (Kocher-Debré-Sémélaigne syndrome). Histochemical and ultrastructural study of skeletal muscle.

THE unusual association of muscular hypertrophy with childhood hypothyroidism1-8has been referred to as the Kocher-Debre-Semelaigne (KDS) syndrome.1The features of this syndrome include retarded intellectual, physical, osseous, and dental development, constipation, myxedema, bradycardia, a peculiar facies, a large tongue, coarse hair and skin, hypotonia, and prolonged deep tendon reflexes, as in cretinism,9plus a generalized increase in the skeletal muscle mass, and an athletic, almost herculean, appearance. Descriptions of skeletal muscle pathology in this syndrome are sparse and contradictory.1,3-7 It is the purpose of this paper (1) to report the results of morphological, histochemical, and ultrastructural studies performed on muscle biopsies obtained from two hypothyroid children, one with muscular hypertrophy, as in the KDS syndrome, and one with normal muscular development, (2) to compare these results with previously published data, and (3) to attempt to relate them to some of the known biological effects

Diagnosis of Surgical Lesions and Diseases of the Adrenal Glands

Van Wyk Grumbach syndrome (VWGS) and Kocher-Debre Semelaigne syndrome (KDSS) are rare forms of pseudo-precocious puberty and myopathy in patients with longstanding untreated hypothyroidism. We present the case of an adolescent girl who developed pseudo-precocious puberty and myopathy caused by long-term untreated hypothyroidism.A 17-year-old female patient was referred to our outpatient clinic due to menstrual irregularities. She had muscle pain and multiple cystic ovaries in addition to clinical signs of severe congenital hypothyroidism. High levels of creatinine and creatinine kinase and accompanying muscle hypertrophy were present. After the initiation of l-thyroxine therapy, the symptoms were alleviated in a short time.Congenital and acquired hypothyroidism should be considered in the differential diagnosis of pseudo-precocious puberty and myopathy that presents with muscle pain, muscle hypertrophy, and elevated creatinine kinase levels.