Background: Brain abnormalities like cerebral midline malformations (CMM) can be detected by fetal sonography. CMM with neonatal hypopituitarism may cause severe hypoglycemia.
Case presentation: We report about three cases of term eutrophic newborns, which all presented with severe neonatal hypoglycemia despite prenatally diagnosed CMM. All three patients were born vaginally and were immediately breastfed after normal postnatal adaptation. In the first case septooptic dysplasia was diagnosed prenatally. The newborn boy developed recurrent periods of shivering and eventually seizures within the first 8 h of life. Blood glucose was extremely low with 0.6 mmol/l (NR 3.55.5) and resulted in severe multicystic encephalopathy, epilepsy and severe developmental delay. Congenital hypopituitarism was confirmed via blood tests. In the second case an agenesia of the corpus callosum was known from prenatal diagnostics. After normal glucose tests at 1, 3 and 6 h after birth, the monitoring was stopped. At an age of 32 h the boy presented with a hypoglycemic seizure (glucose level 1.4 mmol/l). Follow-up revealed severe neonatal GH deficiency and a microdeletion syndrome 46,XY,del(18)(q21.2). In the third case prenatal diagnostics revealed an isolated absence of the septum pellucidum. Glucose measurements were normal for 4 h postnatally. Fourteen hours after birth the boy appeared pale, tachycardic and shivering. Glucose level was 1.6 mmol/l. Despite glucose infusion one further hypoglycemia occurred. Endocrine assessment revealed isolated GH deficiency.
Conclusion: Prenatal diagnosis of cerebral midline defects should urge caring physicians to plan the delivery in centres with paediatric endocrine experience. Neonatal glucose monitoring should be performed not only within the first 4 h after birth but over a longer period of several days. Endocrine assessment is required within the first days in order to test for congenital hypopituitarism. Close collaboration between gynecologists, neonatologists and endocrinologists may prevent bad neurological outcome.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology