Asymptomatic Hypernatremia in an Infant with Midline Defects

Holoprosencephaly is a developmental abnormality caused due to incomplete cleavage of the rostral neural tube (basal forebrain) structures during early embryogenesis. This defect causes incomplete separation of the right and left cerebral hemispheres. Children manifest a wide spectrum of clinical manifestations, the extent of which depends upon the degree of hemispheric nonseparation. We describe an infant with midline cleft referred for preoperative evaluation in whom, asymptomatic electrolyte abnormalities and holoprosencephaly were identified. On further evaluation, the infant was diagnosed to have isolated central diabetes insipidus and she responded well to oral desmopressin therapy. Cleft lip and palate is one of the commonest congenital malformations and midline clefts are likely to be associated with significant pituitary abnormalities. Awareness about the syndromic associations with clefts and the associated anomalies are important for early diagnosis and intervention in these children.