Rare Causes of Childhood Stroke: A Single-Center Experience

Background/Purpose: Considerable differences exist between childhood and adult stroke. Among others, etiology differs significantly from adulthood and encompasses a much wider spectrum of underlying conditions. By reporting a series of children with childhood stroke resulting from rare or unusual causes, we aim to illustrate the etiological diversity of childhood stroke and diagnostic pitfalls.

Methods: Retrospective analysis of children (aged 1 month to 18 years) with clinically and/or radiographically confirmed stroke admitted to our institution between 2005 and 2015. Imaging results, data on demographics, mode of clinical presentation, and stroke risk factors were obtained.

Results: Among a total of 55 stroke cases admitted during this time period, 14 were identified as having a rare underlying disease or an unusual cause of stroke. Conditions identified were Moyamoya disease, moyamoya syndrome due to osteodysplastic primordial dwarfism, Parry-Romberg-like disease, post radiation vasculopathy, fibromuscular dysplasia, Arginin-Bernstein disease, pyruvate dehydrogenase deficiency, Pelizaeus-Merzbacher like disease, anabolic drug abuse, borreliosis, trichothiodystrophy, PHACES, group B streptococcal meningitis, Molybdän-cofactor deficiency. In 7 out of 14, the underlying condition was identified following the diagnostic stroke work-up. Diagnostic and therapeutic difficulties and challenges will be discussed.

Conclusion: Childhood stroke is a rare disease commonly associated with underlying rare conditions. In 50%, the rare disease was known before, but the stroke risk was not known (e.g., metabolic diseases). Stroke needs to be considered in case of clinical deterioration of children with metabolic diseases. Our cohort highlights the extremely diverse differential diagnosis in children with stroke.