Background: Overt neonatal hyperthyroidism is estimated to occur in 12% of offspring of pregnant women with Graves disease. Preterm delivery, enhancement of bone include advanced bone age, craniosynostosis, and microcephaly may be present. Ventriculomegaly and hydrocephalus may present rarely, and just three cases were reported previously. Craniosynostosis is a risk factor for delayed cerebral development, hydrocephalus, and psychomotor retardation. Craniolacunia (Lacnar skull deformity) is an abnormality of the calvarial bones of the skull, which develops during fetal life and is present at birth. It is almost always associated with meningocele, and rarely with craniosynostosis, Arnold-Chiari malformation, and Klippel-Feil syndrome. However craniolacunia with neonatal hyperthyroidism has not previously been reported.
Objective and hypotheses: This is the first report of two cases with neonatal hyperthyroidism due to maternal Graves disease associated with craniolacunia, although neither of them had craniosynostosis.
Results: Case 1: a male infant was delivered at 35 weeks gestation to a 27-year-old mother with Graves disease. His mother had been treated with thiamazole (MMI) and levothyroxine from 25 weeks gestation because TRAb was >30 IU/l (normal, <2). He had a goitre, exophthalmos, irritability, dyspnoea, hepatosplenomegaly, thymic enlargement, thrombocytopenia, hydrocephalus with aqueductal stenosis, and craniolacunia. TSH <0.005 μIU/ml, FT3 29.79 pg/ml, and FT4 >7.8 ng/dl at 3 days old. Case 2: a female infant was delivered at 33 weeks gestation and affected with ventricular septal defect. Her mother had pedal oedema and hypertension from 24 weeks gestation and was diagnosed as having Graves disease on the first postpartum day (TRAb 23.5%; normal, <15%). At 5 days old, she presented with irritability due to hyperthyroidism which abated spontaneously. She had craniolacunia.
Conclusion: This is the first report of two cases with craniolacunia associated with neonatal hyperthyroidism due to maternal Graves disease, although neither of them had craniosynostosis.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology