|Year : 2012 | Volume
| Issue : 2 | Page : 53-55
Satyam Rajvanshi1, Rajeev Philip2, Gopal K Rai1, KK Gupta2
1 Department of Medicine, Lala Lajpat Rai Memorial Medical College, Meerut, Uttar Pradesh, India
2 Department of Endocrinology, Lala Lajpat Rai Memorial Medical College, Meerut, Uttar Pradesh, India
|Date of Web Publication||12-May-2012|
F16, PG Hostel, Lala Lajpat Rai Memorial Medical College Campus, Garh Road, Meerut, Uttar Pradesh 250 004
Source of Support: None, Conflict of Interest: None
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.
Keywords: Hypothyroidism, Kocher-Debre-Semelaigne syndrome, pseudohypertrophy
|How to cite this article:|
Rajvanshi S, Philip R, Rai GK, Gupta K K. Kocher-Debre-Semelaigne syndrome. Thyroid Res Pract 2012;9:53-5
| Introduction|| |
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 (HS) in adults, which are reversible with treatment.  The combination of features of hypothyroidism, calf muscle hypertrophy, presence of slowness of contraction-relaxation of tendon reflexes, and percussion myoedema assists in diagnosis.  Therefore, these syndromes must be considered in differential diagnosis of hereditary myopathies.
| Case Report|| |
An 11-year-old female child presented with complaints of growth failure, fatigue, puffiness of face, hoarseness of voice, and deafness since 1 year. She also gave history suggestive of proximal muscle weakness, hair loss, constipation, and cold intolerance. Her antenatal, natal, and postnatal history were unremarkable as were her past and treatment history. There was no history of any radiation exposure. No other member of the family was affected.
On general examination, her pulse rate was 70/min, regular, all peripheral pulses palpable; BP was 86/70 mmHg with no postural variation. The presence of coarse facial features, depressed nasal bridge, facial and periorbital puffiness, dry skin, and acanthosis nigricans was noted [Figure 1]. She weighed 19.2 kg, her height was 108 cm (both below third percentile); arm span was 104 cm, the upper segment to lower segment ratio was 0.9. Her IQ was normal. Systemic examination revealed bilateral bulky calf muscles, delayed contraction and relaxation of ankle jerk, and pseudomyotonia of calf muscles with negative Gower's sign [Figure 2]. Her gait was normal. The rest of nervous system and other systemic examination were within normal limits.
The investigation performed showed hemoglobin of 9.4 g% with normocytic normochromic red blood cells on peripheral smear. The total and differential leucocyte count and platelet counts were normal. Renal and kidney function tests were normal. Urinary examination showed no abnormalities. The bone age was only 5.3 years (by Tanner White House 2). Audiometry showed conductive hearing loss.
Thyroid hormone deficiency was evident as serum T4 was <1.0 μg/dl (4.5-12.0), serum T3 was <0.25 ng/ml (70-130), and serum TSH was 1186.0 μIU/ml (0.30-5.0). Primary autoimmune etiology was confirmed by raised anti-TPO antibody titre >1300 U/ml. Serum CPK was raised to 1062 U/L and aPTT was prolonged for 47.90 s (34.90). Ultrasonography of the thyroid gland was normal.
A diagnosis of autoimmune thyroid disease, primary hypothyroidism, was made and she was treated with 50 μg thyroxine once a day. On follow-up after 3 months, she showed significant improvements in her symptoms and regression in volume of calf muscles was noted.
| Discussion|| |
Skeletal muscle abnormalities comprising of diffuse myalgia, increased stiffness and volume, and slowness of contraction and relaxation are common manifestations of hypothyroidism. Weakness, however, is not a prominent feature. Hypothyroidism in pediatric population in association with these muscle abnormalities is known as the Kocher-Debr–-Semelaigne syndrome (KDS), and hypothyroidism in adult life with muscle hypertrophy is known as the HS.  KDS is also labelled as cretinism muscular hypertrophy, hypothyroid myopathy, hypothyroidism-large muscle syndrome, myopathy myxedema syndrome, and myxedema-muscular hypertrophy syndrome. 
Children with KDS usually present between 18 months and 10 years of age, but reports of cases diagnosed at earlier ages and even in neonates are also available.  The patients present with the clinical features of hypothyroidism along with muscle enlargement.  The enlarged muscles have a firm, resilient ("rubbery") feel and are slightly weaker and more hypotonic than healthy ones; hence they are pseudohypertrophied. The presence of slowness of both the contraction and relaxation phases of tendon reflexes, pseudomyotonia, and myokymia assist in making a bedside diagnosis.  The pseudohypertrophy involves muscles of extremities, limb girdle, trunk, hands, and feet, but it is more prominent in muscles of limbs hence giving the athletic or Herculean look to the patient. 
KDS has been found to be associated with all the usual causes of hypothyroidism presenting in childhood, namely, agenesis of thyroid gland, defective synthesis of thyroid hormone, or autoimmune causes of hypothyroidism.  The pathogenesis of the pseudohypertrophy in KDS is incompletely understood. Increased glycogen accumulation, increased mucopolysaccharide deposits in the muscle gives the appearance of hypertrophy of muscles. Nonspecific histochemical and ultrastructural changes seen on muscle biopsy return to normal with treatment. In hypothyroidism shift of fast twitch muscle fiber to slow twitch fiber leads to slow muscle contraction and relaxation as seen in KDS. These changes improve or disappear by proper treatment as was seen in our case. ,
The significance of awareness of this syndrome is in not misdiagnosing it for a primary muscular disorder-like dystrophinopathy, leading to delay in the specific treatment as KDS myopathy is reversible and responds favorably to adequate treatment for hypothyroidism. 
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[Figure 1], [Figure 2]