Presentation
Dysmorphic features, mental retardation and urinary incontinence.
Patient Data
The bullet-shaped vertebral bodies show mild posterior scalloping and anterior inferior beaking, accompanied by distal sacral agenesis.
The normal lordosis of the lumbar spine is decreased.
Case Discussion
This case demonstrates bullet-shaped vertebrae with posterior vertebral body scalloping and anterior inferior beaking, highly suggestive of mucopolysaccharidosis, particularly Hurler syndrome (MPS type I).
It should be noted that a bullet-shaped vertebra refers to the anterior beaking of the vertebral body and is seen in mucopolysaccharidosis (Morquio disease with anterior central beaking, Hurler disease with anterior inferior beaking), achondroplasia, and congenital hypothyroidism.
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