Upshaw-Schulman Syndrome.
Rabia Ahmad1, Muneeza Natiq1, Mona Aziz2
1Department of Pathology, Allama Iqbal Medical College, Lahore.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|November 3, 2015
Summary
A young girl with recurrent neurological episodes and organ failure was diagnosed with Upshaw-Schulman syndrome, a rare form of congenital Thrombotic Thrombocytopenic Purpura. She is now managed with regular Fresh Frozen Plasma transfusions.
Area of Science:
- Pediatric Hematology
- Rare Genetic Disorders
- Neurology
Background:
- Upshaw-Schulman syndrome is a rare, congenital form of Thrombotic Thrombocytopenic Purpura (TTP).
- It is characterized by a deficiency in ADAMTS13 activity, leading to microangiopathic hemolytic anemia and thrombocytopenia.
- Congenital TTP presents with recurrent episodes of neurological symptoms, renal failure, and abdominal pain.
Observation:
- A 13-year-old girl presented with acute onset seizures, altered consciousness, and anuria.
- She also exhibited right-sided hemiparesis and had a history of similar episodes since childhood.
- Physical examination and extensive investigations were performed.
Findings:
- The patient was diagnosed with Upshaw-Schulman syndrome, a rare congenital Thrombotic Thrombocytopenic Purpura.
- This diagnosis was based on clinical presentation, medical history, and comprehensive investigations.
- The patient achieved remission.
Implications:
- Early diagnosis and management of congenital TTP are crucial for preventing severe complications.
- Fresh Frozen Plasma (FFP) transfusions are a key treatment modality for maintaining remission.
- This case highlights the importance of considering rare genetic disorders in pediatric patients with recurrent unexplained neurological and hematological symptoms.
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