Abstract:
Morquio syndrome (Type IV mucopolysaccharidosis) is an autosomal recessive condition with a prevalence
of 1:40000 to 1:200000.1 The deficiencies of N-acetyl-galactosamine-6-sulfatase and beta-galactosidase
leads to accumulation of glycosaminoglycan resulting Morquio syndrome type A and B
respectively. Here, we report a case of two siblings with Morquio syndrome. Parents brought two male
siblings aged 5 years and 30 months due to abnormal physical appearance. They were born to non-consanguineous
healthy parents who had uneventful antenatal periods. Parents were worried about short
stature and abnormal chest shape. On examination, both of them had similar physical characteristics
such as a coarse face, short stature, pectus carinatum, scoliosis, short neck, coxa vulga, and multiple
bony deformities. They had normal basic biochemistry, haematological indices, and bone profil . Thoracolumbar
spine and pelvis X rays showed platyspondyly with anterior beaking and flaring of iliac
wings. Ophthalmology assessment of both siblings revealed amblyopia. Both siblings had elevated
urine glycosaminoglycans. Qualitative urine analysis showed moderate excretion of chondroitin sulphate
and mildly elevated Heparan sulphate, which favoured MPS type IV. Lysosomal enzyme assay
performed on elder sibling showed a low level of beta-galactosidase-6-Sulphate-Sulphatase and normal
level of beta-galactosidase, and the diagnosis was confi med as MPS type IV-A. Since no curative therapy
was available yet, parents were explained about the disease condition, and follow-up was arranged
with a multidisciplinary approach. Unfortunately, there is a significant amount of financial constraint
in diagnosing and managing Morquio syndrome. Developing countries such as Sri Lanka cannot afford
enzyme replacement therapy, and HSCT is not developed for children with inborn errors of metabolism.
However, it is essential to have surveillance for anticipated complications of the condition with a
multidisciplinary team approach until a cheaper disease-modifying agent is available.