Abstract
This case report presents a rare endocrine disorder highlights the significance of serum electrolyte measurement in children with congenital brain abnormalities presenting with convulsion. It also emphasizes the importance of careful urine volume estimation in diapered infants suspected to have polyuria.
Highlights
Diabetes insipidus (DI) is characterized by polyuria due to decreased water reabsorption by the collecting tubule
Central DI can result from multiple etiologies
Congenital brain abnormalities such as optic nerve hypoplasia syndrome with agenesis of the corpus callosum, holoprosencephaly, and familial pituitary hypoplasia may be associated with central DI
Summary
Profound Hypernatremia due to Central Diabetes Insipidus in a child with lobar holoprosencephaly Aravinthan B1, Srisaravanapavananthan N1, Kesavan V1. There are three forms of holoprosencephaly: This case report presents a rare endocrine disorder Magnetic Resonance Imaging (MRI). Measurement in children with congenital brain abnormalities presenting with convulsion. It emphasizes the importance of careful urine volume estimation in diapered infants suspected to have polyuria. Endocrinopathies, such as diabetes insipidus, hypothyroidism, hypocortisolism, and growth holoprosencephaly. Case Report (Key Words : Central Diabetes Insipidus polyuria hypernatremia)
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