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Hypodipsia-hypernatremia syndrome associated with holoprosencephaly in a child: a case report

Aysun Karabay-Bayazit1, Ozlem Hergüner, Sakir Altunbaşak

  • 1Department of Pediatric Nephrology, Cukurova University, Faculty of Medicine, Adana, Turkey.

The Turkish Journal of Pediatrics
|October 31, 2002
PubMed

Insights

This study presents a child with diabetes insipidus and hypodipsia, linked to holoprosencephaly. Treatment with hydration and vasopressin normalized levels, highlighting the need to consider brain malformations in affected children.

Area of Science:

  • Pediatric Endocrinology
  • Neurodevelopmental Disorders
  • Genetics

Background:

  • Diabetes insipidus (DI) and hypodipsia can lead to severe hypernatremia and dehydration in children.
  • Holoprosencephaly is a congenital brain malformation with a range of clinical presentations.
  • The co-occurrence of these conditions is rare and warrants further investigation.

Observation:

  • A two-year-old girl presented with recurrent hypernatremic dehydration, acute renal failure, and seizures.
  • Clinical features included hypodipsia, microcephaly, failure to thrive, and unilateral cleft lip and palate.
  • Magnetic resonance imaging confirmed lobar holoprosencephaly.

Findings:

  • The patient exhibited increased plasma osmolality and decreased urinary osmolality, consistent with DI.
  • Urine antidiuretic hormone (ADH) levels were low.
  • Treatment with hydration and a vasopressin analogue successfully normalized plasma osmolality.

Implications:

  • This case underscores the importance of considering cerebral malformations, such as holoprosencephaly, in the differential diagnosis of hypernatremia-hypodipsia syndrome in children.
  • Early recognition and management of DI and hypodipsia are crucial to prevent severe complications.
  • Further research into the genetic and developmental pathways linking brain malformations and hormonal dysregulation is needed.

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