HOLOPROZENSEFALİ TANILI BİR YENİDOĞANDA ERKEN BAŞLANGIÇLI SANTRAL DİABETES İNSİPİDUS

Abstract

Holoprozensefali, prozensefalonun serebral hemisferleri oluşturmak için bölünmesi sırasındaki yetersizlikten kaynaklanan kompleks bir beyin malformasyonudur. Anormal hipotalamik infundibular bölge nedeniyle vazopressin salınımındaki kusura bağlı santral diabetes insipidus (SDİ) görülebilmektedir. Erken neonatal dönemde holoprozensefaliye ikincil gelişen SDİ vakası enderdir. Holoprozensefali ve 13q delesyonu olan erken başlangıçlı bir SDİ vakası sunulmuştur.

Keywords

• Holoprozensefali
• santral diabetes insipidus
• yenidoğan

EARLY-ONSET CENTRAL DIABETES INSIPIDUS IN A NEWBORN WITH HOLOPROSENCEPHALY

Abstract

Holoprosencephaly is a complex brain malformation caused by the inability of the prosencephalon to divide to form the cerebral hemispheres. Central diabetes insipidus (CDI), as a result of a defect in vasopressin release, may be seen due to the abnormal hypothalamic infundibular region. CDI developing secondary to holoprosencephaly in the early neonatal period has rarely been reported in the literature. A case of early-onset CDI with holoprosencephaly and 13q deletion is presented.

Keywords

• Holoprosencephaly
• central diabetes insipidus
• newborn
• desmopressin

References

1. 1. Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis 2007; 2: 8. [CrossRef]
2. 2. Makaryus AN, McFarlane SI. Diabetes insipidus: Diagnosis and treatment of a complex disease, review. Clevel. Clin. J. Med 2006; 73(1): 65-71. [CrossRef]
3. 3. Dubourg C, Kim A, Watrin E, de Tayrac M, Odent S, David V, et al. Recent advances in understanding inheritance of holoprosencephaly. Am J Med Genet 2018; 178(2): 258–69. [CrossRef]
4. 4. Barratt KS, Arkell RM. ZIC2 in Holoprosencephaly. Adv Exp Med Biol 2018; 1046:269-99. [CrossRef]
5. 5. Yang YH, Lin JJ, Hsia SH, Wu CT, Wang HS, Hung PC, et al. Central diabetes insipidus in children with acute brain insult. Pediatr Neurol 2011; 45(6): 377-80. [CrossRef]
6. 6. Ferlin ML, Sales DS, Celini FP, Martinelli Junior CE. Central diabetes insipidus: alert for dehydration in very low birth weight infants during the neonatal period. A case report. Sao Paulo Med J 2015; 133(1): 60-3. [CrossRef]
7. 7. Qureshi S, Galiveeti S, Bichet DG, Roth J. Diabetes insipidus: celebrating a century of vasopressin therapy. Endocrinology 2014; 155(12): 4605-21. [CrossRef]
8. 8. Djermane A, Elmaleh M, Simon D, Poidvin A, Carel JC, Léger J. Central diabetes insipidus in infancy with or without hypothalamic adipsic hypernatremia syndrome: Early identification and outcome. J Clin Endocrinol Metab 2016; 101(2): 635-43. [CrossRef]

9. 9. Kasim N, Bagga B, Diaz-Thomas A. Intracranial pathologies associated with central diabetes insipidus in infants. J Pediatr Endocrinol Metab 2018; 31: 951-8. [CrossRef]
10. 10. Ueda H, Numoto S, Kakita H, Takeshita S, Muto D, Goto T, et al. Neonatal central diabetes insipidus caused by severe perinatal asphyxia. Pediatr Ther 2016; 6(1): 278. [CrossRef]
11. 11. Atasay B, Berberoğlu M, Günlemez A, Evliyaoğlu O, Adiyaman P, Unal S, et al. Management of central diabetes insipidus with oral desmopressin in a premature neonate. J Pediatr Endocrinol Metab 2004; 17(2): 227-230. [CrossRef]
12. 12. Yarber B, Wood B. Early diagnosis and treatment of diabetes insipidus in a newborn infant: a case study. Neonatal Netw 1992; 11: 17-20. pmid:1287448.
13. 13. Quetin F, Garnier H, Brauner R, Vodovar M, Magny JF. [Persistent central diabetes insipidus in a very low birth weight infant] [Article in French]. Arch Pediatr 2007; 14(11): 1321-3. [CrossRef]
14. 14. Raisingani M, Gopi RP, Shah B. Use of chlorothiazide in the management of central diabetes insipidus in early infancy. Case Rep Pediatr 2017; 2407028. [CrossRef]
15. 15. Molnar Z, Sotiridou E, Dixon H, Ogilvy-Stuart A. Transient diabetes insipidus in a very-low-birthweight preterm infant with intraventricular haemorrhage. Acta Paediatr 2012; 101(9): 389-90. [CrossRef]
16. 16. Fjellestad-Paulsen A, Paulsen O, d’Agay-Abensour L, Lundin S, Czemichow P. Central diabetes insipidus: Oral treatment with dDAVP. Regul Pept 1993; 45(1-2): 303-7. [CrossRef]
17. 17. Stick SM, Betts PR. Oral desmopressin in neonatal diabetes insipidus. Arch Dis Child 1987; 62(11): 1177-8.