RESUMO
We report on a 3-year-old boy with bilateral choanal atresia, hypoplastic nipples, and developmental delay who had been exposed to carbimazole in utero because of maternal Graves disease. His combination of abnormalities and facial appearance strongly resembles that of a previously reported child exposed to methimazole (which is the active metabolite of carbimazole) in utero. We suggest that this represents a rare but distinct syndrome of methimazole teratogenicity, probably related to first-trimester exposure. Recognition of such teratogenic effects is clearly important for genetic counselling and for management of subsequent pregnancies.
Assuntos
Anormalidades Múltiplas/induzido quimicamente , Antitireóideos/efeitos adversos , Atresia das Cóanas/induzido quimicamente , Metimazol/efeitos adversos , Teratogênicos/farmacologia , Antitireóideos/uso terapêutico , Pré-Escolar , Cromossomos Humanos Par 22 , Face/anormalidades , Feminino , Doença de Graves/tratamento farmacológico , Perda Auditiva/induzido quimicamente , Humanos , Hibridização in Situ Fluorescente , Masculino , Metimazol/uso terapêutico , Hipotonia Muscular/induzido quimicamente , Mamilos/anormalidades , Gravidez , Complicações na Gravidez/tratamento farmacológicoRESUMO
The technique previously applied to serum can, with minor modifications, be applied to cerebrospinal fluid. Good protein patterns have been obtained and similarities as well as differences have been demonstrated between cerebrospinal fluid and serum. The patterns obtained should prove useful in neurological diagnosis.
