Ruhma Ali
Army Medical College*,Pakistan Shifa Medical College, Pakistan
Biography
Ruhma is a junior doctor at PAF Hospital, Islamabad. She received her MBBS degree from Army Medical College. She has passed United States medical licensing exams and has worked as a research scholar at Yale school of Medicine. Her research interests include developmental disabilities and neonatal medicine.
Abstract
Mucopolysaccharidosis type IV is an inherited, autosomal recessive, lysosomal storage disorder caused by deficiency of enzymes involved in the degradation of glycosaminoglycans (GAGs) which results in accumulation of keratan sulfate and chondroitin-6-sulfate in the tissues leading to pathological changes specifically at the bone and cartilage. The case of a 4 year old boy with Morquio syndrome is presented. Parents had a non-consanguineous marriage and no family history of a similar condition was observed on both sides. On examination, coarse facial features, short stature, widened wrists, pectus carinatum, kyphoscoliosis of the spine and genu valgum were noted. Motor examination revealed right leg stiffness. X-ray of the wrist showed irregular metaphysis of radius and ulna and sloping of the radius and ulna towards each other. The metacarpals were short and wide with pointed proximal ends. The carpal bones were small and irregular (figure 1). X-ray of the spine showed scoliosis, flattened vertebral bodies and central beaking of the vertebrae. Broadening of the anterior portion of the ribs was also seen (figure 2). A diagnosis of mucopolysaccharidosis type IV: Morquio syndrome was established based on the clinical examination and skeletal survey. Confirmation test were not done due to lack of infra structure. In conclusion Mucopolysaccharidosis type IV is a rare disorder with multisystem involvement. Since accurate diagnosis requires enzyme assay which is not available in underdeveloped countries, recognition of specific clinical signs and symptoms and radiographic findings are necessary to establish the diagnosis and provide optimum management plan.