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A case of hypothyroidism with mongolian spots

Published by : ayurdoctor on:03-10-13 10:54 AM
Association of hypothyroidism with excessive ectopic/aberrant mongloian spots is not reported in the literature till date. We herewith report, a 1-year-old male child who presented with clinical features of hypothyroidism with excessive ectopic/aberrant monglolian spots. Child is evaluated for hypothyroidism and found to have abnormal thyroid profile. Bone-age was less than chronological age. Cardiac evaluation revealed mild pericardial effusion. Child was started on thyroid hormone replacement therapy and advised follow-up.

Association of ectopic/aberrant Mongolian spots with hypothyroidism is not reported in literature until date. We report a child with unusual excessive ectopic Mongolian spots with hypothyroidism and mental retardation.

A 1-year-old male child born to second degree consanguineous marriage presented with history of delayed milestone. Child was not able to sit or stand. He could not recognize his parents and had no social smile. History of constipation was present. Antenatal history was uneventful. History of Neonatal intensive care admission due to neonatal sepsis was present during new born period. Baby was on formula feed and buffalo milk. Family history was not significant. None of the family members had hypothyroidism. No significant maternal illness was present.

Examination revealed wide open anterior fontanel which was 3 cm × 3 cm in size. He had course facial feature and was lethargic. Skin showed multiple Mongolian spots on the buttocks, thigh, back, abdomen, hands, and feet. [Figure 1], [Figure 2] and [Figure 3] Anthropometry showed weight of 8 kg, length 71 cm, and head circumference of 44 cm. Developmental assessment revealed no neck-holding or social smile. There was gross global developmental delay. Generalized hypotonia was present. Deep tendon reflexes showed delayed relaxation. Liver was palpable 3 cm below right costal margin. Initial hemogram showed hemoglobin of 9 g%. X-ray wrist showed absence of carpel bones. Thyroid profile revealed T3-35 ng/dl, T4 - <0.30 μ/dl, thyroid stimulating hormone (TSH) was elevated and was >150 μIU/ml. Echo cardiogram showed mild pericardial effusion. Ophthalmology evaluation was normal. With a diagnosis of hypothyroidism, baby was started on thyroid hormone. Baby showed improvement clinically and his parents were advised to continue thyroid hormone replacement therapy and advised regular follow-up.

Figure 1: Excessive Mongolian spots on abdomen


Figure 2: Mongolian spots on lateral aspect of abdomen


Figure 3: Mongolian spots on lower limb

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