Presentation
Dysmorphic features and developmental delay.
Patient Data
Age: 2 years
Gender: Female
From the case:
Mucopolysaccharidoses
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Thoracolumbar scoliosis with anterior inferior vertebral body beaking and oar-shaped ribs.
Pointed proximal metacarpal bones, bullet-shaped phalanges and madelung deformity.
From the case:
Mucopolysaccharidoses
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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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