Clinical Presentation of Mucopolysaccharidosis Type II (Hunter's Syndrome)

Abstract

We present a rare case of mucopolysaccharidosis (MPS) with a typical presentation of mental retardation and absence of corneal clouding. The purpose of presenting this case report is to highlight the distinctive manifestation of MPS (Hunter's disease) and to provide a concise report of Hunter's disease for medical practitioners with the hope that such information will help identify boys earlier in the course of their disease. This report is of a 7-year-old boy who presented to the children outpatient through a referral with a history of inability to grasp objects, inability to express self, and coarse skin, which started 5 years ago. On examination, he was short statured, with a big head, protruding abdomen, coarse skin, swollen wrist joints, and clubbed fingers. There was mild mental retardation. Investigations revealed mucopolysaccharides in urine ad radiographic findings were in keeping with diagnosis. Based on the clinical features and radiological findings, one can diagnose a case of MPS. However, careful and critical approach is necessary to exactly diagnose the type of MPS as enzymatic studies are not available in most centers.

Keywords: Children; Distinctive features; Mucopolysaccharidosis.

Figure 1

Radiograph of part of cervical and thoraco-lumbar vertebrae of our patient showing the following: Anterior wedge collapse in the C₃ and C₄ vertebral bodies; the cervical spine is normal in alignment and density; the disc spaces are within normal limits; spondylolisthesis of the L₁ vertebrae over the L₂ vertebrae with gibbus formation; anterior wedge collapse of the L₂ vertebral body; anterior beaking is noted in the L₁–L₃ vertebral bodies; and the density of the vertebrae and disc spaces are normal

Figure 2

Radiograph of iliac vertebrae showing tapering of iliac spine with sclerosis (shown by irregular shadows)

Figure 3

Coarse facies, protuberant abdomen, absence of corneal clouding, and swollen eye lids

Figure 4

Clawed and short fingers, with nodules on the wrist

Figure 5

Disproportionate short trunk and thick skin