Kocher-Debre-Semelaigne syndrome.

Dear Sir,

Kocher Debre Semelaigne syndrome is an uncommon complication of prolonged hypothyroidism in childhood, usually mimicking congenital myopathies in the presentation.[1] However, being eminently reversible, early diagnosis is essential.[2]

A 7-year-old female presented with a 3-month history of swelling over the body, poor growth, difficulty in squatting, and pain in legs on prolonged walking. On evaluation, she had short stature (<−3 Z score on WHO charts) with infantile proportions [Figure 1], decreased (abnormal) weight for age (−2 to −3 Z scores), and subnormal IQ (60, on Binet-Kamat test). Her vital parameters (pulse 76/min, respiratory rate 24/min) were age-appropriate. She had a coarse facies with a friendly disposition. Her skin was dry, hairs were thin with areas of alopecia, and limb-girdle muscles (especially calf muscles) were hypertrophied [Figure 2]. Cardiorespiratory and abdominal examination were observed normal. Hypertrophied muscles were firm to feel, power was grade III+/V at the hip girdle and the shoulder respectively, deep tendon reflexes were diminished, and plantars were flexor.

Figure 1

Short stature (<−3 Z score on WHO charts) with infantile proportions

Figure 2

Hypertrophied limb-girdle muscles and dry skin

Sensory examination was normal, and there were no abnormal movements or cerebellar signs. Initial hematological and biochemical workup were normal except for microcytic hypochromic anemia of 9.2 g/100 mL. Serum creatinine phosphokinase was 912 U/mL (normal 35–145 U/mL). Serum triiodothyronine was 92 ng/dL (83–280 ng/dL) and thyroid stimulating hormone was 25.6 mIU/L (normal 0.5–5 mIU/L). X-ray had revealed delayed bone age [Figure 3], delayed closure of fontanelle, delayed dental eruption [Figure 4], and dysplasia of heads of femur and epiphyseal dysgenesis [Figure 5]. A diagnosis of Kocher-Debré-Semelaigne syndrome was made, and thyroxine was started.

Figure 3

X-ray showing delayed bone age

Figure 4

X-ray showing delayed dental eruption

Figure 5

X-ray showing dysplasia of heads of femur and epiphyseal dysgenesis

Hypertrophy of limb-girdle muscles associated with hypothyroidism is suggestive of Kocher-Debré-Semelaigne syndrome. The syndrome was initially described by Kocher in 1892 and further explained in detail by Debre and Semelaigne in 1935. The condition is associated with prolonged hypothyroidism and the reported age at the presentation varies from 1.5 years to 10 years.[1] The usual involved muscles include calves, thighs, neck, tongue, small muscles of hand and feet; facial muscles may also be involved occasionally. The cause of the pseudohypertrophy is not known, and the muscle biopsy findings are nonspecific.

This report is to increase awareness of this uncommon but important entity, as failure to identify it may lead to futile investigations of a primary muscle disorder, thereby delaying the start of specific treatment.