Hydranencephaly complicated by central diabetes insipidus: report of two cases and systematic review of literature

Childs Nerv Syst. 2019 Jul;35(7):1165-1171. doi: 10.1007/s00381-019-04137-9. Epub 2019 Mar 30.


Purpose: Hydranencephaly is a congenital condition characterized by the complete or near-complete absence of the cerebral cortex and basal ganglia, while central diabetes insipidus (CDI) is a condition characterized by the inability to concentrate urine due to a deficiency in antidiuretic hormone (ADH). CDI is known to occur in midline congenital malformations such as holoprosencephaly and septo-optic dysplasia, but its association with hydranencephaly is less well-established.

Methods: We reported two cases of hydranencephaly complicated by CDI. We also performed a systematic review of the SCOPUS and PubMed databases for case reports and case series of patients with hydranencephaly and CDI, and compiled data on the clinical features and treatment options.

Results: Seven cases of hydranencephaly complicated by CDI were identified from the systematic review in addition to the two cases reported here, resulting in a total of nine cases. The patients' age ranged from 4 days to 4 years, and there was a female sex predilection (3.5:1). Patients most commonly presented with macrocephaly, developmental delay, and seizures, with dysmorphic features noted in 33%. In addition to CDI, other endocrinologic derangements included hypothyroidism (22%), hypocortisolemia (22%), and panhypopituitarism (22%). CDI was treated using sublingual or oral desmopressin while hypopituitarism was treated with the appropriate hormone replacement therapy. Insertion of a ventriculoperitoneal (VP) shunt was reported in 44% of cases.

Conclusion: The case reports and systematic review suggest a previously unknown association between hydranencephaly and CDI. Clinicians managing cases of hydranencephaly are advised to have a high index of suspicion for CDI in patients presenting with the characteristic signs and symptoms.

Keywords: Central diabetes insipidus; Congenital malformations; Hydranencephaly; Shunt surgery.

Publication types

  • Case Reports
  • Systematic Review

MeSH terms

  • Diabetes Insipidus, Neurogenic / complications*
  • Diabetes Insipidus, Neurogenic / diagnostic imaging
  • Diabetes Insipidus, Neurogenic / surgery
  • Female
  • Humans
  • Hydranencephaly / complications*
  • Hydranencephaly / diagnostic imaging
  • Hydranencephaly / surgery
  • Infant
  • Tomography, X-Ray Computed
  • Treatment Outcome
  • Ventriculoperitoneal Shunt