Purpose or Case Report: Background:

Connective tissue disease can affect multiple systems in children. In the central nervous system, these entities can present as cerebrospinal fluid (CSF) disorders, such as CSF leaks, due to dysregulation of collagen and/or other extracellular matrix components. Most patients present with chronic, daily, unremitting headaches that usually improve when lying down. Imaging findings can show classic signs of intracranial hypotension, signs of idiopathic intracranial hypertension, or both. The latter, termed “mixed CSF pressure disorders”, a newer entity described in the literature, can present a diagnostic dilemma as patients can present with atypical symptoms in combination with a clinical history of hypermobility. Conventional CT myelography can confirm capacious thecal sacs, multiple CSF leaks, prominence of perimedullary veins, or multiple dural diverticula. The senior author, a pediatric neurointerventionalist, treated the presented cases.

Education goals:

1) To present common heritable (e.g. COL11A2, COL5A2, ADAMTS2, ZNF469, FBN1, FLNA, TNXB) connective tissue diseases that can manifest with CSF disorders in children.
2) To highlight the main findings on conventional CT myelography to detect CSF leaks.
3) To correlate CT myelography findings with brain and spinal MRI in children with CSF disorders.
4) To discuss the options for management from a neurointerventional perspective.
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