Advertisement

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

  • Abdelsimar T. OmarII
  • Kathleen Joy O. KhuEmail author
Original Article

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.

Keywords

Hydranencephaly Central diabetes insipidus Congenital malformations Shunt surgery 

Notes

Acknowledgments

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

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

References

  1. 1.
    Chinsky JM (2012) Hydranencephaly: transillumination may not illuminate diagnosis. Neoreviews 13:e233–e240.  https://doi.org/10.1542/neo.13-4-e233 CrossRefGoogle Scholar
  2. 2.
    Quek Y-W, Su P-H, Tsao T-F, Chen JY, Ng YY, Hu JM, Chen SJ (2008) Hydranencephaly associated with interruption of bilateral internal carotid arteries. Pediatr Neonatol 49:43–47.  https://doi.org/10.1016/S1875-9572(08)60011-X CrossRefGoogle Scholar
  3. 3.
    Segawa Y, Itokazu N, Hirose A, Nakagawa S, Takashima S (2007) A case of partial 14q- with facial features of holoprosencephaly and hydranencephaly. Pediatr Neurol 37:51–54.  https://doi.org/10.1016/j.pediatrneurol.2007.02.010 CrossRefGoogle Scholar
  4. 4.
    Dublin AB, French BN (1980) Diagnostic image evaluation of hydranencephaly and pictorially similar entities, with emphasis on computed tomography. Radiology 137:81–91.  https://doi.org/10.1148/radiology.137.1.7422865 CrossRefGoogle Scholar
  5. 5.
    Kelly TG, Sharif UM, Southern JF, Gururajan K, Segall HD (2011) An unusual case of hydranencephaly presenting with an anterior midline cyst, a posterior calcified mass, cerebellar hypoplasia and occlusion of the posterior cerebral arteries. Pediatr Radiol 41:274–277.  https://doi.org/10.1007/s00247-010-1894-1 CrossRefGoogle Scholar
  6. 6.
    Cecchetto G, Milanese L, Giordano R, Viero A, Suma V, Manara R (2013) Looking at the missing brain: hydranencephaly case series and literature review. Pediatr Neurol 48:152–158.  https://doi.org/10.1016/j.pediatrneurol.2012.10.009 CrossRefGoogle Scholar
  7. 7.
    Dabrowski E, Kadakia R, Zimmerman D (2016) Diabetes insipidus in infants and children. Best Pract Res Clin Endocrinol Metab 30:317–328.  https://doi.org/10.1016/j.beem.2016.02.006 CrossRefGoogle Scholar
  8. 8.
    Kasim N, Bagga B, Diaz-Thomas A (2018) Intracranial pathologies associated with central diabetes insipidus in infants. J Pediatr Endocrinol Metab 31:951–958.  https://doi.org/10.1515/jpem-2017-0300 CrossRefGoogle Scholar
  9. 9.
    Di Iorgi N, Napoli F, Allegri AEM et al (2012) Diabetes insipidus: diagnosis and management. Horm Res Paediatr 77:69–84.  https://doi.org/10.1159/000336333 CrossRefGoogle Scholar
  10. 10.
    Pavone P, Praticò AD, Vitaliti G, Ruggieri M, Rizzo R, Parano E, Pavone L, Pero G, Falsaperla R (2014) Hydranencephaly: cerebral spinal fluid instead of cerebral mantles. Ital J Pediatr 40:79.  https://doi.org/10.1186/s13052-014-0079-1 CrossRefGoogle Scholar
  11. 11.
    Santiprabhob J, Likitmaskul S, Boonyasiri A, Boonsathorn S, Buddawong T (2005) Etiologies of central diabetes insipidus in Thai children. J Pediatr Endocrinol Metab 18:653–661CrossRefGoogle Scholar
  12. 12.
    Wang LC, Cohen ME, Duffner PK (1994) Etiologies of central diabetes insipidus in children. Pediatr Neurol 11:273–277.  https://doi.org/10.1016/0887-8994(94)90001-9 CrossRefGoogle Scholar
  13. 13.
    Poe LB, Coleman L (1989) MR of hydranencephaly. Am J Neuroradiol 10:S61Google Scholar
  14. 14.
    Negi M, Kobayashi D, Kumagai J, Kuroiwa T, Shiraishi J, Takemura T, Irahara K, Hayashi M, Eishi Y (2010) An autopsy case of congenital hydrocephalus and severe thinning of the cerebral cortex in a 4-year-old boy. Neuropathology 30(5):559–563.  https://doi.org/10.1111/j.1440-1789.2010.01138.x Google Scholar
  15. 15.
    Marin G, Baspineiro B, Vilca I (2018) Treatment with sublingual desmopressin in two infants with hydranencephaly and central diabetes insipidus. Arch Argent Pediatr 116:e93–e97.  https://doi.org/10.5546/aap.2018.e93 Google Scholar
  16. 16.
    Omar AT, Khu KO (2019) Hydranencephaly complicated by central diabetes insipidus: report of two cases and systematic review of literature. Childs Nerv Syst (in review)Google Scholar
  17. 17.
    Krebs VLJ, Damiani D, Albuquerque Diniz EM et al (1998) Central diabetes insipidus as a complication of neonatal pathology: report of three cases. Pediatr Int 40:146–149.  https://doi.org/10.1111/j.1442-200X.1998.tb01900.x CrossRefGoogle Scholar
  18. 18.
    Borenstein-Levin L, Koren I, Kugelman A, Bader D, Toropine A, Riskin A (2014) Post-hemorrhagic hydrocephalus and diabetes insipidus in preterm infants. J Pediatr Endocrinol Metab 27(11-12):1261–1263.  https://doi.org/10.1515/jpem-2014-0098 Google Scholar
  19. 19.
    Antunes JL, Muraszko K (1990) The vascular supply of the hypothalamus-pituitary axis. In: Neuroendocrinological aspects of neurosurgery. Springer Vienna, Vienna, pp 42–47CrossRefGoogle Scholar
  20. 20.
    Karadag A, Erdeve O, Atasay B, Arsan S, Deda G, Ince E, Ocal G, Berberoglu M (2006) Isolated central diabetes insipidus in a newborn with congenital toxoplasmosis. J Pediatr Endocrinol Metab 19(2):173–175.  https://doi.org/10.1515/JPEM.2006.19.2.173 CrossRefGoogle Scholar
  21. 21.
    Jones G, Muriello M, Patel A, Logan L (2015) Enteroviral meningoencephalitis complicated by central diabetes insipidus in a neonate: a case report and review of the literature. J Pediatric Infect Dis Soc 4:155–158.  https://doi.org/10.1093/jpids/pit055 CrossRefGoogle Scholar
  22. 22.
    Torres MDAM, Kazee MDAM, Simon MDH et al (2000) Central diabetes insipidus due to herpes simplex in a patient immunosuppressed by Cushing’s syndrome. Endocr Pract 6:26–28.  https://doi.org/10.4158/EP.6.1.26 CrossRefGoogle Scholar
  23. 23.
    Ribeiro S, Domingues V, Faria RM, Mendonca T (2013) Invasive pneumococcal disease complicated by cerebral vasculitis, transient diabetes insipidus and spondylodiscitis. Case Reports 2013:bcr2013010336–bcr2013010336.  https://doi.org/10.1136/bcr-2013-010336 Google Scholar
  24. 24.
    Juffermans NP, Verbon A, Van der Poll T (2002) Diabetes insipidus as a complication of cryptococcal meningitis in an HIV-infected patient. Scand J Infect Dis 34:397–398CrossRefGoogle Scholar
  25. 25.
    Chellen S, Whittaker E, Eisenhut M, Grandjean L (2018) Cerebral tuberculomas in a 6-year-old girl causing central diabetes insipidus. BMJ Case Rep 2018:bcr-2018-226590.  https://doi.org/10.1136/bcr-2018-226590 CrossRefGoogle Scholar
  26. 26.
    Malhotra A, Bajpai A, Hunt RW (2010) Central diabetes insipidus in association with neonatal brain abscess. J Pediatr Endocrinol Metab 23(3):235–236.  https://doi.org/10.1515/JPEM.2010.23.3.235 CrossRefGoogle Scholar
  27. 27.
    Dribin T, McAdams RM (2014) A neonate with gastroschisis and hydrocephalus complicated by central diabetes insipidus. J Pediatr Surg Case Rep 2:366–368.  https://doi.org/10.1016/j.epsc.2014.07.011 CrossRefGoogle Scholar
  28. 28.
    Menzies DG, Shaw JF, Kean DM, Campbell IW (1988) Cranial diabetes insipidus secondary to arrested hydrocephalus. Postgrad Med J 64:300–302.  https://doi.org/10.1136/pgmj.64.750.300 CrossRefGoogle Scholar
  29. 29.
    Merker B (2008) Life expectancy in hydranencephaly. Clin Neurol Neurosurg 110:213–214.  https://doi.org/10.1016/j.clineuro.2007.11.011 CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Section of Neurosurgery, Department of Neurosciences, College of Medicine and Philippine General HospitalUniversity of the Philippines ManilaManilaPhilippines

Personalised recommendations