Stealth thrombosis of brain and kidney in a girl with Upshaw–Schulman syndrome not receiving prophylactic plasma infusions

Excerpt

A 12-year-old female was admitted to our hospital complaining of severe abdominal pain in the right lower quadrant. She was vomiting, but had neither peritonitic signs nor hematuria, and there was no costo-vertebral angle tenderness while breathing. At the age of 4 years, she was diagnosed with congenital thrombotic thrombocytopenic purpura (cTTP), also termed Upshaw–Schulman syndrome (USS), based on ADAMTS13 activity < 0.5% of normal, an absent ADAMTS13 inhibitor (< 0.5 Bethesda units/mL), and biallelic ADAMTS13 gene mutations [1]. Despite a confirmed diagnosis of USS, she was not receiving prophylactic plasma infusions. Because of a largely asymptomatic disease course with paucity of clinical signs and symptoms her parents declined (non-sterilized) plasma prophylaxis. On admission, her platelet count was 83 × 10⁹/L, serum lactate dehydrogenase 422 IU/L (normal 121–234), hemoglobin 13.7 g/dL, leukocytes 10.47 × 10⁹/L and total bilirubin 0.9 mg/dL (normal 0.3–1.3). d-dimer, blood urea nitrogen, creatinine, and C-reactive protein were in the normal ranges. Urinalysis showed protein 1+, occult blood negative. Abdominal computed tomography scan revealed a large infarction of the right lower kidney and a small infarction of the left kidney (Fig. 1a, arrows). She received an infusion of 240 ml of fresh frozen plasma (6 mL/kg body weight) daily for 2 consecutive days and analgetic drugs. On the following day, abdominal/retroperitoneal pain had disappeared. Despite lacking neurological symptoms, a cerebral magnetic resonance imaging (MRI) was performed that showed the presence of multiple older ischemic infarctions (Fig. 1b, arrows). Based on these findings, the patient was subjected to prophylactic plasma infusions (6 mL/kg body weight) every 2 weeks and, after 4 years without notable disease manifestations, a control MRI showed no new cerebral ischemic lesions.

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