A very rare entity of diabetes insipidus associated with Edwards syndrome.
Edwards syndrome is the second most commonly seen trisomy. It was first described by John Hamilton Edwards in 1960. Although most cases result in termination or foetal loss, live births have been documented in 5%. Edwards syndrome is characterized by multisystem anomalies, of which holoprosencephaly (HPE) is observed in 4-8% of cases. The clinical findings correspond to the degree of HPE malformation. Convulsions and endocrinopathies are among the severe clinical findings. The most common endocrinopathies are central diabetes insipidus (DI), hypothyroidism, hypocortisolism and growth hormone deficiency. The coexistence of holoproencephaly and DI in Edwards syndrome was discussed under the light of literature.
Department of Pediatrics, Division of Neonatology, Yuzuncu Yil University School of Medicine, Van, Turkey.
Nihat
N
Demir
Murat
M
Doğan
Erdal
E
Peker
Keziban
K
Bulan
Oğuz
O
Tuncer
D002887:Chromosomes, Human, Pair 18 / Q000000981:diagnostic imaging; D003919:Diabetes Insipidus / Q000150:complications* / Q000151:congenital* / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011666:Pulmonary Valve Stenosis / Q000150:complications / Q000151:congenital; D013771:Tetralogy of Fallot / Q000150:complications; D014314:Trisomy; D000073842:Trisomy 18 Syndrome; D016216:Ultrasonography, Prenatal; D055815:Young Adult