Case 1 A 3‐month‐old boy was referred to neurosurgery when a subcutaneous bulge in the lower lumbar region was incidentally noted. Initial workup included an ultrasound of the region that… Click to show full abstract
Case 1 A 3‐month‐old boy was referred to neurosurgery when a subcutaneous bulge in the lower lumbar region was incidentally noted. Initial workup included an ultrasound of the region that was concerning for spinal dysraphism, including sacral agenesis and an associated intraspinal mass. These findings prompted a lumbosacral magnetic resonance image (MRI), which confirmed the diagnosis of lipomyelomeningocele. The patient was clinically asymptomatic, with normal strength in his lower extremities, no evidence of hydrocephalus, and normal bowel and bladder function. Because he was meeting developmental milestones, he was managed observantly with annual clinical exams, which remained normal. At 3 years of age, he underwent urodynamic studies, which were unremarkable, and he was able to successfully toilet train. At around this time, his parents reported transient morning stiffness in the back and lower legs, which would resolve by the afternoon. This prompted a repeat MRI [Figure 1], which demonstrated the development of a syrinx in the lumbar region of the spinal cord. Surgical debulking and untethering of the lipomyelomeningocele was discussed with the parents, along with the associated risks and potential benefits, and, ultimately, the decision was made to continue expectant management. At 5 years of age, he remains clinically asymptomatic and continues to meet developmental milestones.
               
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