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Abstract Details

Congenital Thrombotic Thrombocytopenic Purpura Presenting as Extensive Multifocal Ischemic Strokes with Aphasia and Hemiplegia in a 3-year-old Male Patient
Cerebrovascular Disease and Interventional Neurology
P8 - Poster Session 8 (8:00 AM-9:00 AM)
14-012
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Congenital thrombotic thrombocytopenic purpura (cTTP) is an ultra-rare autosomal recessive thrombotic microangiopathy caused by a deficiency in von Willebrand factor (VWF)-cleaving disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13), resulting in large VWF multimers and increased risk of microvascular thrombosis. Approximately one-third of patients with cTTP experience ischemic strokes, with median age of onset at 19 years.
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A neuro-typical 3-year-old male with a history of thrombocytopenia and hyperbilirubinemia during neonatal period presented with pallor, fatigue and abnormal gait on an international flight. Initial exam at local hospital documented right foot drop, progressing to right facial droop, right-sided hemiplegia and aphasia. Initial labs showed PLT 56x103/ul, Hb 4.9 g/dL and LDH 1098 U/L. CT Head demonstrated a left internal capsule stroke, prompting transfer to our facility. Upon arrival, he was found hemiplegic and aphasic, with PLT 4 x103/ul, Hb 5.5g/dL and LDH 3961U/L. FFP was administered immediately. MRI brain demonstrated extensive acute infarct within left MCA distribution and punctate infarcts in right parasagittal corona radiata. MRA brain showed near occlusion of left M1 segment of MCA, with moderate stenosis within right MCA and ICA distributions. He received three rounds of plasmapheresis, three pulse-dose Methylprednisolone and seven recombinant ADAMST13 infusions. DSA showed multifocal stenosis of the bilateral distal MCA and ACA, proliferative changes and collateral supply formation of right MCA and left ACA. Trio WGS showed a homozygous pathogenic variant ADAMTS13: c.1335del p.F445Lfs, confirming cTTP. At 3-months post-stroke, the patient has mild residual weakness of right upper extremity with resolved aphasia and gait.
cTTP is rare and can be asymptomatic. Many patients suffer from multiple strokes prior to diagnosis. For pediatric patients with a history of thrombocytopenia presenting with embolic strokes of undetermined etiology, cTTP should be considered and ADAMST13 activity measurement may be indicated.
Authors/Disclosures
Melissa Mizerik, DO
PRESENTER 		Dr. Mizerik has nothing to disclose.
Lin Yao, MD, PhD (Texas Children's Hospital Baylor Medical School) Dr. Yao has nothing to disclose.
Manasa Sudheendra, MBBS (Texas Children's Hospital/ Baylor College of Medicine) Dr. Sudheendra has nothing to disclose.
Rima El Atrache, MD (Baylor College of Medicine) Dr. El Atrache has nothing to disclose.
Daniel Davila-Williams, MD (Texas Children's Hospital) Dr. Davila-Williams has nothing to disclose.
Sarah R. Risen, MD Dr. Risen has nothing to disclose.