Ventriculoperitoneal shunt and bilateral herniotomies in mucopolysaccharidosis type I: A surgical challenge

Abstract

ABSTRACT Mucopolysaccharidosis type I or Hurler syndrome (1 in 100,000) is a rare lysosomal storage disorder caused by a defective IDUA gene which codes for α-L-iduronidase enzyme. Enzyme deficiency results in the accumulation of dermatan and heparan sulfate which leads to characteristic facial features, skeletal abnormalities, hepatosplenomegaly, cardiac and pulmonary disease, and progressive mental retardation. A 1-year-old male child presented with chief complaints of increasing head size and bilateral large inguinoscrotal swellings for 5 months. He had a motor developmental delay with poor speech at 1 year of age. The infant weighed 10 kg with a length of 76.5 cm and large head size with head circumference of 53.5 cm (>97 centiles); the anterior fontanel was wide open. Facial features revealed prominent forehead, bilateral corneal clouding, and coarse facies. Per-abdomen examination revealed hepatosplenomegaly; inguinoscrotal evaluation revealed bilateral large reducible indirect inguinal hernias. Radiographic findings suggested dysostosis multiplex. Serial cranial ultrasonography revealed progressive hydrocephalus. Noncontrast computed tomography brain confirmed communicating type of hydrocephalus with periventricular ooze. Considering the clinical history, clinical examination, and skeletal survey, findings were consistent with mucopolysaccharidoses. Urine spot test for glycosaminoglycans for mucopolysaccharidosis was positive. Enzyme analysis of alpha-L-iduronidase showed deficient levels. A molecular study revealed a homozygous mutation in the IDUA gene confirming the diagnosis of Hurler syndrome. The right ventriculoperitoneal shunt was performed after preoperative optimization. Bilateral inguinal hernia repair was contemplated after a gap of 8 weeks. On 9-month follow-up, there was a gradual reduction in ventricular hemispheric ratio, and the patient is doing well on follow-up. Surgical management of the MPS I patient is challenging, but with timely medical and surgical treatment, the prognosis is improving.