Presentation
Scoliosis on physical examiantion suspected mucopolyschariodsis.
Patient Data
There is evidence of abnormal vertebral bodies in almost the whole spine which appear flattened with a hemivertebrae in the lower dorsal spine resulting in exaggerated lumbar lordosis and S-shaped scoliosis.
Central anterior beak of the vertebral bodies with widening intervertebral disc spaces is also noted on lateral view.
Impression:
Findings indicate Mucopolysaccharidoses, mostly type IV Morquio syndrome.
Case Discussion
This baby girl, presenting to her primary with scoliosis, x-ray of the whole spine was requested and showed flattened vertebral bodies throughout the axial skeleton, central anterior beak of the vertebral bodies with widening intervertebral disc spaces and exaggerated lumbar lordosis findings indicating Mucopolysaccharidoses, mostly type IV Morquio syndrome which is considered the most common type. An important life threatening feature to look for in this patients is atlantoaxial subluxation due to associated odontoid hypoplasia.