Acquired thrombotic thrombocytopenia purpura associated with severe ADAMTS13 deficiency in a 3-year-old boy: A case report and review of the literature

Hamidah Alias, Woon Lee Yong, Farah Azima Abdul Muttlib, Ho Wai Koo, C-Khai Loh, Sie Chong Doris Lau, Hafiza Alauddin, Raja Zahratul Azma Raja Sabudin

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Abstract

Background: Acquired thrombotic thrombocytopenia purpura is very rarely encountered in children. It is often misdiagnosed initially when the condition is not inherited. Case presentation: We describe a 3-year-old Malay boy who presented with simple febrile seizure and had no neurological deficit, however, he was found to have microangiopathic hemolytic anemia, thrombocytopenia, and elevated serum lactate dehydrogenase. An ADAMTS13 assay results showed zero activities (0%), and markedly high level of ADAMTS13 inhibitor (93.15 U/mL) confirming the diagnosis of secondary thrombotic thrombocytopenia purpura. He received fresh frozen plasma infusions for 3 days and subsequently his platelet levels normalized. Serial ADAMTS13 assay results showed improvement. He was also given a short course of prednisolone after which the ADAMTS13 activity normalized (> 114%) at the end of prednisolone course. Conclusions: At presentation, acquired thrombotic thrombocytopenia purpura in a very young child is commonly misdiagnosed as other conditions like idiopathic thrombocytopenic purpura, Evans syndrome, atypical hemolytic-uremic syndrome, or malignancy. ADAMTS13 assay should be performed early when thrombotic thrombocytopenia purpura is suspected as this condition is associated with dire consequences.

Original languageEnglish
Article number276
JournalJournal of Medical Case Reports
Volume12
Issue number1
DOIs
Publication statusPublished - 17 Sep 2018

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Purpura
Thrombocytopenia
Prednisolone
Diagnostic Errors
Febrile Seizures
Idiopathic Thrombocytopenic Purpura
Hemolytic Anemia
L-Lactate Dehydrogenase
Blood Platelets
Serum
Neoplasms

Keywords

  • ADAMTS13 deficiency
  • Children
  • Thrombotic thrombocytopenia purpura

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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title = "Acquired thrombotic thrombocytopenia purpura associated with severe ADAMTS13 deficiency in a 3-year-old boy: A case report and review of the literature",
abstract = "Background: Acquired thrombotic thrombocytopenia purpura is very rarely encountered in children. It is often misdiagnosed initially when the condition is not inherited. Case presentation: We describe a 3-year-old Malay boy who presented with simple febrile seizure and had no neurological deficit, however, he was found to have microangiopathic hemolytic anemia, thrombocytopenia, and elevated serum lactate dehydrogenase. An ADAMTS13 assay results showed zero activities (0{\%}), and markedly high level of ADAMTS13 inhibitor (93.15 U/mL) confirming the diagnosis of secondary thrombotic thrombocytopenia purpura. He received fresh frozen plasma infusions for 3 days and subsequently his platelet levels normalized. Serial ADAMTS13 assay results showed improvement. He was also given a short course of prednisolone after which the ADAMTS13 activity normalized (> 114{\%}) at the end of prednisolone course. Conclusions: At presentation, acquired thrombotic thrombocytopenia purpura in a very young child is commonly misdiagnosed as other conditions like idiopathic thrombocytopenic purpura, Evans syndrome, atypical hemolytic-uremic syndrome, or malignancy. ADAMTS13 assay should be performed early when thrombotic thrombocytopenia purpura is suspected as this condition is associated with dire consequences.",
keywords = "ADAMTS13 deficiency, Children, Thrombotic thrombocytopenia purpura",
author = "Hamidah Alias and Yong, {Woon Lee} and Muttlib, {Farah Azima Abdul} and Koo, {Ho Wai} and C-Khai Loh and Lau, {Sie Chong Doris} and Hafiza Alauddin and {Raja Sabudin}, {Raja Zahratul Azma}",
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T1 - Acquired thrombotic thrombocytopenia purpura associated with severe ADAMTS13 deficiency in a 3-year-old boy

T2 - A case report and review of the literature

AU - Alias, Hamidah

AU - Yong, Woon Lee

AU - Muttlib, Farah Azima Abdul

AU - Koo, Ho Wai

AU - Loh, C-Khai

AU - Lau, Sie Chong Doris

AU - Alauddin, Hafiza

AU - Raja Sabudin, Raja Zahratul Azma

PY - 2018/9/17

Y1 - 2018/9/17

N2 - Background: Acquired thrombotic thrombocytopenia purpura is very rarely encountered in children. It is often misdiagnosed initially when the condition is not inherited. Case presentation: We describe a 3-year-old Malay boy who presented with simple febrile seizure and had no neurological deficit, however, he was found to have microangiopathic hemolytic anemia, thrombocytopenia, and elevated serum lactate dehydrogenase. An ADAMTS13 assay results showed zero activities (0%), and markedly high level of ADAMTS13 inhibitor (93.15 U/mL) confirming the diagnosis of secondary thrombotic thrombocytopenia purpura. He received fresh frozen plasma infusions for 3 days and subsequently his platelet levels normalized. Serial ADAMTS13 assay results showed improvement. He was also given a short course of prednisolone after which the ADAMTS13 activity normalized (> 114%) at the end of prednisolone course. Conclusions: At presentation, acquired thrombotic thrombocytopenia purpura in a very young child is commonly misdiagnosed as other conditions like idiopathic thrombocytopenic purpura, Evans syndrome, atypical hemolytic-uremic syndrome, or malignancy. ADAMTS13 assay should be performed early when thrombotic thrombocytopenia purpura is suspected as this condition is associated with dire consequences.

AB - Background: Acquired thrombotic thrombocytopenia purpura is very rarely encountered in children. It is often misdiagnosed initially when the condition is not inherited. Case presentation: We describe a 3-year-old Malay boy who presented with simple febrile seizure and had no neurological deficit, however, he was found to have microangiopathic hemolytic anemia, thrombocytopenia, and elevated serum lactate dehydrogenase. An ADAMTS13 assay results showed zero activities (0%), and markedly high level of ADAMTS13 inhibitor (93.15 U/mL) confirming the diagnosis of secondary thrombotic thrombocytopenia purpura. He received fresh frozen plasma infusions for 3 days and subsequently his platelet levels normalized. Serial ADAMTS13 assay results showed improvement. He was also given a short course of prednisolone after which the ADAMTS13 activity normalized (> 114%) at the end of prednisolone course. Conclusions: At presentation, acquired thrombotic thrombocytopenia purpura in a very young child is commonly misdiagnosed as other conditions like idiopathic thrombocytopenic purpura, Evans syndrome, atypical hemolytic-uremic syndrome, or malignancy. ADAMTS13 assay should be performed early when thrombotic thrombocytopenia purpura is suspected as this condition is associated with dire consequences.

KW - ADAMTS13 deficiency

KW - Children

KW - Thrombotic thrombocytopenia purpura

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