Occult spinal dysraphism

Discussion:

This baby was admitted with long standing history of constipation under evaluation. The child had no neurological deficits and was symptomatically treated with milk of magnesia. The persistent symptoms led to a detailed clinical and neurological evaluation which identified a sacral dimple. This prompted the clinician to send the patient for a screening MRI.

Prior to the MRI the previous radiographs were evaluated and this identified a subtle yet key pointer to the condition. The absent pedicle sign or the winking owl sign are pathognomonic of posterior element affliction that can be identified on frontal radiographs of the spine. 

A detailed MRI study including screening of the whole spine is a good pointer to identify any underlying congenital neural tube defects. 

This baby had thoracic and lumbar cord hydromyelia extending to conus with vertebral defect and intrathecal lipomatous component - all fitting in with a picture of occult spinal dysraphism. Babies may present with only constipation and this is one of the final diagnoses considered if no cutaneous markers or any neurologic deficits are identified. 

Take home message: Every pediatric case with constipation - careful assessment of the spine and cutaneous markers will enable early diagnosis and management. 

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