Anesthetic Concerns in Patient with Wolf-Hirschhorn Syndrome: A Case Report

Case Report

Austin J Clin Case Rep. 2021; 8(3): 1201.

Anesthetic Concerns in Patient with Wolf-Hirschhorn Syndrome: A Case Report

Sari M¹* and Cicekci F²

¹Department of Anesthesiology and Reanimation, Agri Teaching and Research Hospital, Turkey

²Department of Anesthesiology and Reanimation, University of Selcuk, Turkey

*Corresponding author: Sari M, Department of Anesthesiology and Reanimation, Agri Teaching and Research Hospital, Turkey

Received: December 04, 2020; Accepted: March 13, 2021; Published: March 20, 2021

Abstract

Wolf-Hirschhorn Syndrome (WHS) is a well-known, rare genetic disease, which isusually accompanied by prenatal and postnatal growth tension in psycho-motor retardation, which is associated with severe mental retardation, typical facial anomalies, midline defects, skeletal anomalies, hypotonia and contractions. It occurs as a result of deletion (4p-) in the distal part of the short arm of the 4th chromosome. It was aimed to discuss anesthesia management under general anesthesia accompanied by the literature in a case diagnosed with WHS who undergoing undescended testis and colostomy operations with developmental retardation.

Introduction

Wolf-Hirschhorn Syndrome (WHS) is a very rare hereditary disease resulting from the deletion of the distal short arm of chromosome 4 [1]. The prevalence of WHS has been reported to be approximately 1: 50,000 and is twice as common in females [1]. Patients with WHS are characterized by typical craniofacial features such as hypertelorism and “Greek warrior helmet appearance” of the nose, microcephaly, prominent glabella and a high forehead, ocular hyperlorism, epicanthus, high arched eyebrows, a short philtrum, micrognathia, and underdeveloped ears, facing downwards [1,2]. These patients have characteristic musculoskeletal anomalies, congenital heart defects, hearing loss, urinary tract malformations and structural brain abnormalities. Patients with WHS often have seizures and the prognosis is very poor. 38% of these patients die of heart failure or pneumonia before reaching the age of 2 [1-3]. WHS patients require corrective surgery due to the presence of various anomalies and general anesthesia is performed in many cases. However, due to the presence of various abnormalities, managing the airway, regulating muscle relaxation and controlling vital signs during surgery may be difficult. A patient diagnosed with WHS underwent Total Intravenous Anesthesia (TIVA). With the review of the literature related to this case report, we aimed to present our anesthesia concerns.

Case Presentation

A male patient, 65.2 cmheight and 4.5kg, 22 months and previously diagnosed with WHS by gene analysis, was admitted to undescended testis and colostomy surgery by pediatric surgery.He had a history of cardiac disease, cleft palate, seizure, including congenital aortic stenosis and pulmonary stenosis. The patient also had microcephaly and characteristic facial dysmorphism (Figure 1). The patient’s motor skills were such that he couldn’t stand alone without manual support. There was no abnormal family history. There were no prescription drugs for seizure management other than phenobarbital. Patient had previously received anesthesia for aortic correction surgery and cleft palate operation.

Citation: Sari M and Cicekci F. Anesthetic Concerns in Patient with Wolf-Hirschhorn Syndrome: A Case Report. Austin J Clin Case Rep. 2021; 8(3): 1201.