ESPE Abstracts (2023) 97 P2-221

ESPE2023 Poster Category 2 Adrenals and HPA Axis (37 abstracts)

Diabetes insipidus as first manifestation of congenital malformation of the neurocranium

Ioana Vasiliu , Otilia Frasinariu , Adriana Mocanu , Ionut Daniel Iancu & Laura Mihaela Trandafir

University Of Medicine And Pharmacy Grigore T. Popa, Iasi, Romania

Central diabetes insipidus (CDI) at neonatal age may occur in the setting of intracranial abnormalities that affect the hypothalamus-pituitary system. These conditions are characterized by defective production, transport or secretion of antidiuretic hormone (ADH). This results in inappropriately low ADH levels in the setting of increased plasma osmolality. We present the case of an infant born by C-section at 38 weeks of gestation, with bilateral cheilognatopalatoschisis, naso-maxillary hypoplasia and microcephaly. The cranio-cerebral CT performed at 35 days of life reveals agenesis of the anterior knee and the middle 1/3 of the corpus callosum, possibly with the presence of the spenium of the corpus callosum, agenesis of the frontal horns of the lateral ventricle, hypoplasia of the third ventricle and cleft lip and palate. Blood tests reveal severe hypernatremia, suspecting central diabetes insipidus due to malformations of the middle floor of the neurocranium. Treatment with Minirin (Desmopresin) 30 micrograms daily is introduced with favorable evolution. The patient is hospitalized at the age of 6 months for the surgical intervention for cheilognatopalatoshisis, which was carried out without problems. During the hospitalization in the plastic surgery clinic, the patient has a convulsive episode in the conditions of severe hypernatremia (163.61 mmol/L) associated with hyperchloremia (135.45 mmol/L), hypokalemia (3.09 mmol/L), which is why he is transferred to the department of intensive care, where he received 30 micrograms twice a day with subsequent favorable evolution. The baby boy is discharged in good general condition, with a recommendation for treatment with Minirin 30 micrograms twice a day and ionogram monitoring. CDI is a complex disease, due to the destruction of supraoptic and paraventricular neurons by germ cell tumors, surgical or accidental trauma, brain malformations, infections and rare genetic conditions.

Volume 97

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

European Society for Paediatric Endocrinology 

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