[Congenital Hypothyroidism: 2 observed cases at the Gabriel Toure University Hospital of Bamako, Mali].

A A Diakité, G Dembélé, K S Doumbia, N L Traoré, B Harber,Fl Diakité, N Sidibe,A Koné, F Dicko-Traore,B Togo,M Sylla, T Sidibe

Le Mali medical(2017)

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摘要
We report two observations of congenital hypothyroidism diagnosed in 2011 in the university hospital of Gabriel Toure in Bamako. The first occurred in a male infant of 40 days, admitted for respiratory distress and anterior compressive cervical swelling. Although his neonatal period occurred without any medical particularity, family medical history revealed the presence of unexplored goiter in three paternal uncles. Neurological examination was normal with the presence of constipation. A cervical-thoracic scan showed a homogeneous and symmetric hypertrophy of thyroid lobes with a compression of the trachea. The dosage of thyroid hormones confirmed hypothyroidism (FT4 = 1.6 pmol/l, TSH = 60 µUI/ml). After one month of treatment using Levothyroxine, 10 mg/kg, there was a drastic improvement of respiratory distress, a regression of goiter and normalization of thyroid hormones. At six months of life he had no goiter and psychomotor development was normal. The second case occurred in a male infant of 2 years, from an area of endemic goiter. Puffiness of the face without lower limb edema, constipation, and delayed independent walking were the reasons for consultation. On examination, we noted the absence of goiter, large anterior fontanel with facial dysmorphism (lunar facies, hypertelorism, flat nose, macroglossia) and infiltration of the skin more marked in the face with cold extremities. He required support to sit. The thyroid function tests confirmed hypothyroidism (FT4 = 72 nmol/l, FT3 = 0.40 nmol/l, TSH > 60 µUI/l). Under levothyroxine, there was normalization of thyroid hormones after one month of treatment and disappearance of the skin infiltration. At six months of treatment he had acquired independent walking. Mental prognosis remains to be evaluated. These cases confirm the necessity of routine neonatal diagnosis of hypothyroidism.
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关键词
Bamako,Congenital Hypothyroidism,Hypothyroïdie congénitale,Infant,Mali,Nourrisson,Thyroid hormones,hormones thyroïdiennes
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