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

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Abstract

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.

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Acknowledgments

The authors would like to thank Dr. Juan Silvestre G. Pascual for contributing the cases reported in the study.

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Authors and Affiliations

  1. Section of Neurosurgery, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Taft Avenue, Ermita, 1000, Manila, Philippines

    Abdelsimar T. Omar II & Kathleen Joy O. Khu

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  1. Abdelsimar T. Omar II
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Correspondence to Kathleen Joy O. Khu.

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Omar, A.T., Khu, K.J.O. Hydranencephaly complicated by central diabetes insipidus: report of two cases and systematic review of literature. Childs Nerv Syst 35, 1165–1171 (2019). https://doi.org/10.1007/s00381-019-04137-9

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