Mucopolysaccharidoses

Case contributed by Dr Abdulmajid Bawazeer

Presentation

Dysmorphic features and developmental delay.

Patient Data

Age: 2 years
Gender: Female
X-ray

Thoracolumbar scoliosis with anterior inferior vertebral body beaking and oar-shaped ribs.
Pointed proximal metacarpal bones, bullet-shaped phalanges and madelung deformity.

MRI

J shape sella turcica, prominent perivascular spaces, narrow foramen magnum and white matter altered signal intensities.

Case Discussion

Mucopolysaccharidoses are a group on inherited disorders with autosomal recessive traits. In our case, it is highly suggestive of Type I.

​In our case, patient's younger brother has the same dysmorphic facial features and less prominent musculoskeletal /brain findings. 

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