Byline: Goutham. Gopinath, P. Nagaraj, M. Kulkarni
Hurler's syndrome (MPS I-H) is a lysosomal storage disorder characterized by physical deformities and developmental anomalies and premature death. Deficiency of the enzyme alfa-L-Idronidase results in intralysosomal accumulation of dermatan sulfate and heparan sulfate resulting in cell dysfunction. It manifests as progressive hepatosplenomegaly, cardiac disease, severe skeletal abnormalities, hydrocephalus and mental retardation. Umbilical and inguinal hernias are common in this disorder. Obstruction of hernia in these children is rare because of wide hernial ring. This is a discussion on a child with Hurler's syndrome who presented with obstructed umbilical hernia. Surgery was performed under general anaesthesia after relieving the obstruction conservatively. Surgical and anaesthetic problems in this syndrome are discussed in the present communication.
INTRODUCTION
Hurler's syndrome is a rare lysosomal storage disorder in which mucopolysaccharides, dermatan sulfate and heparan sulfate are accumulated in the lysosomes causing cellular dysfunction. The incidence is 1:1,00,000 births.[1] Patients with Hurler's syndrome have many medical problems, including progressive developmental delay, airway obstruction, cardiac disease, hepatosplenomegaly, and severe joint restriction, and most die by the age of 10 years.[1] Umbilical or inguinal hernias are constant features but obstruction of umbilical hernia is rare.[2] Anaesthesia and surgery in these children is a challenge. We report our experience of the surgical and anaesthetic management of obstructed umbilical hernia in a patient with Hurler's syndrome and discuss the various anaesthetic and surgical problems faced in this syndrome.
CASE REPORT
A 15-year-old girl, a known case of Hurler's syndrome, presented with umbilical hernia since one year of age. Hernia became irreducible along with symptoms of obstruction 3 months before the present admission. On examination the child was short. Her height was 98 cm and weight 16 kg, which were less than the 5th percentile on the...