Two cases of hepatic adenomas in patients with wolf‐hirschhorn syndrome: A new rare complication?

Abstract

Wolf-Hirschhorn syndrome (WHS) is a rare microdeletion syndrome associated with a characteristic facial appearance, failure to thrive, psychomotor delays, and various major malformations of internal organs; many medical complications have been described (feeding difficulties, epilepsy, hearing problems). Benign or malignant oncologic problems are not a typical feature of the natural history of these patients. We report on two patients with WHS patients in whom hepatic adenoma (HA) were diagnosed during adolescence. The clinical evolution of liver involvement was different between the two. We discuss the possibility of considering HA as a rare medical problem in the follow-up of WHS patients. © 2013 Wiley Periodicals, Inc.

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

“…This is caused by the muscular hypotonia, gastroesphegal reflux and recurrent aspiration [8]. Hypotonia may also result in swallowing difficulties and other gastrointestinal disorders (including hepatic adenomas) [19].…”

Hepatoblastoma and Wolf–Hirschhorn syndrome: Coincidence or a new feature of a rare disease?

“…The only possible causal relationship between WHS and the hepatic adenoma was due to the hyperandrogenemia side‐effect of the anti‐epileptics. The authors indicated that chromosomal anomalies involving the distal portion of chromosome 4 have been identified as being associated with various malignancies other than hepatic tumors . WHSCR exists at the most distal part of the short arm of chromosome 4 .…”

“…Patients usually have seizures until 3 years of age, and majority of them have mental or motor retardation . Cancer is not a frequent feature of the syndrome, but hematopoietic system malignancies and hepatic adenoma have been reported in a few cases . Herein, we report a pediatric patient with WHS who developed hepatoblastoma.…”

Досвід Діагностики Та Спостереження Дитини Із Синдромом Вольфа — Хіршхорна

“…До таких захворювань належить синдром Вольфа -Хіршхорна, при яко-му життєдіяльність обмежена у зв'язку з наявними грубими фізичними вадами розвитку та глибокою розумовою відсталістю [3,8].…”

“…До таких захворювань належить синдром Вольфа -Хіршхорна, при яко-му життєдіяльність обмежена у зв'язку з наявними грубими фізичними вадами розвитку та глибокою розумовою відсталістю [3,8].На жаль, в Україні бракує розвинутих соціаль-них програм для підтримки дітей та їх родин із різ-ними орфанними захворюваннями. Батьки нерід-ко самостійно групуються із сім'ями, яких спіткало схоже горе.…”