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Education & Practice Online First, published on August 28, 2017 as 10.1136/archdischild-2017-313068 Epilogue
An apparent case of non-accidental injury Guan Hao Tan,1 Rajat Bhattacharyya2
BACKGROUND A 4-year-old girl of mixed race origin presented with a 1-month history of spontaneous bruising and occasional gum bleeding raising concerns of non-accidental injury (NAI). There was no family history of bleeding tendencies. She was admitted for further investigations. Examination revealed a thriving girl with multiple bruises over her lower limbs. (figures 1 and 2). There was no hepatosplenomegaly or lymphadenopathy. Her initial full blood count is as follows: haemoglobin 12.1 g/dL, total white blood cell count 14.72x109/L (neutrophil 38%, lymphocyte 29%, monocyte 3%, eosinophil 28% and absolute eosinophil count 4.1x109/L). Her platelet count was slightly low at 135x109/L. Prothrombin time (PT) and activated partial thromboplastin time (aPTT) were normal. QUESTION 1 Apart from investigating for NAI, what features on investigation would distinguish between the differentials below?
A. B. C. D.
Immune thrombocytopenic purpura (ITP). Congenital platelet disorders. Acquired platelet dysfunction disorders. Clotting disorders, such as Von Willebrand disease (VWD).
Figure 1 Bruises on lower limbs.
Table 1 Platelet function study Platelet aggregation test
%
Normal range (%)
ADP 64–111 45↓ Arachidonic acid 52–110 30 ↓ Collagen 68–117 12 ↓ Epinephrine 46–122 17 ↓ Ristocetin 93 80–115 The Von Willebrand factor antigen was 98% (within normal range).
QUESTION 2 Given the above investigations, what could be the causes of the child’s bruising and petechiae?
Blood film review showed normal platelet morphology and no platelet clumps. Mean platelet volume was normal at 11.0 fL. Platelet distribution width was normal and platelet scatter plot on the histogram showed normal distribution. Platelet function test showed decreased aggregation with ADP, arachidonic acid, collagen and epinephrine, but normal aggregation with ristocetin (table 1), and a normal ristocetin cofactor assay. Factor VIII levels were normal; a raised IgE levels were 439 (18–100) IU/mL. Her stool specimen was negative for ova, cysts and parasites. QUESTION 3 What is the final diagnosis?
Answers are on page 02.
Figure 2 Bruises on lower limbs.
Tan GH, Bhattacharyya R. Arch Dis Child Educ Pract Ed 2017;0:1–2. doi:10.1136/archdischild-2017-313068
1
Copyright Article author (or their employer) 2017. Produced by BMJ Publishing Group Ltd under licence.
Downloaded from http://ep.bmj.com/ on August 29, 2017 - Published by group.bmj.com
Epilogue Answers to the questions on page 01 ANSWER TO QUESTION 1 Presentation with petechiae, bruises and gum bleeding suggests a defect in primary haemostasis, the common causes include thrombocytopaenia and platelet function defects; both may be either congenital or acquired. Careful blood film examination to look for platelet size and morphology, neutrophil inclusion is advised. VWD classically presents like a primary haemostatic disorder unless severe (type 3) where the presentation may mimic haemophilia (a disorder of secondary haemostasis). A raised aPTT may suggest VWD, but a normal aPTT does not exclude this diagnosis. Primary haemostasis is the cellular interaction of platelets and the endothelium, forming a platelet plug at the site of injury. Secondary haemostasis includes coagulation cascade activation by initiation, amplification and propagation resulting in stable fibrin clot formation. ANSWER TO QUESTION 2
IgE levels mounted in response to parasite causing mast-cell degranulation. In previous series, more than half of the patients with APDE had associated parasitic infection (ie, ascaris, hookworm andenterobius),4 with increased platelet surface IgG, related to eosinophilic response, interfering with platelet release and function.5 The platelet function study abnormalities are similar to Glanzmann thrombasthenia or storage pool disorder, but is reversible. The prognosis is excellent with all patients spontaneously recovering by 6–12 months. Guan Hao Tan,1 Rajat Bhattacharyya2 1
Department of General Paediatrics, KK Women’s and Children’s Hospital, Singapore 2 Department of Haematology and Oncology, KK Women’s and Children’s Hospital, Singapore Correspondence to Dr Guan Hao Tan, Department of General Paediatrics, KK Women’s and Children’s Hospital, 100 Bukit Timah Road, Singapore 229899, Singapore; tan.guan.hao@kkh.com.sg Competing interests None declared.
A. Von Willebrand disease B. Platelet function disorders C. Factor XIII deficiency.
Patient consent Obtained. Provenance and peer review Not commissioned; externally peer reviewed.
Given that there is mild thrombocytopenia with normal coagulation profile, we need to consider these differentials.
© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
ANSWER TO QUESTION 3 The clinical suspicion was that of acquired platelet dysfunction with eosinophilia (APDE)
She was started on oral tranexamic acid and an assessment by the social worker did not reveal further NAI concerns. On further follow-ups, her eosinophil and platelet count normalised over a period of 6 months, and her bruising completely resolved. Discussion APDE is a rare condition which is unique to Southeast Asian countries, but paediatric caucasian travellers may be affected.1 It mainly occurs in young children and adolescents of both genders, and rarely in adults.1 2 Presentations include unexplained painless ecchymoses, epistaxis and gingival bleeding. Typically, there is eosinophilia ranging from 3% to 69% of total white blood cells,2 3 with normal platelet counts, with some few exceptions where the thrombocytopenia is mild and transient.3 The platelet function tests are abnormal, with impaired platelet aggregation with arachidonic acid, collagen and ADP but normal aggregation to ristocetin. IgE is usually elevated. The pathogenesis is unknown, but postulated to be an inflammatory or infectious process, with the high
2
To cite Tan GH, Bhattacharyya R. Arch Dis Child Educ Pract Ed Published Online First: [please include Day Month Year]. doi:10.1136/archdischild-2017-313068 Received 24 March 2017 Accepted 16 July 2017 Arch Dis Child Educ Pract Ed 2017;0:1–2. doi:10.1136/ archdischild-2017-313068
References 1 Lee AC. Unusual hematologic disease affecting caucasian children traveling to Southeast Asia: acquired platelet dysfunction with eosinophilia. Hematol Rep 2012;4. 2 Laosombat V, Wongchanchailert M, Sattayasevana B, et al. Acquired platelet dysfunction with eosinophilia in children in the south of Thailand. Platelets 2001;12:5–14. 3 Suvatte V, Mahasandana C, Tanphaichitr V, et al. Acquired platelet dysfunction with eosinophilia: study of platelet function in 62 cases. Southeast Asian J Trop Med Public Health 1979;10:358. 4 Poon MC, Ng SC, Coppes MJ. Acquired platelet dysfunction with eosinophilia in white children. J Pediatr 1995;126:959–61. 5 Lucas GN. Acquired platelet dysfunction with eosinophilia (APDE). SLJCH 2009;31:89.
Tan GH, Bhattacharyya R. Arch Dis Child Educ Pract Ed 2017;0:1–2. doi:10.1136/archdischild-2017-313068
Downloaded from http://ep.bmj.com/ on August 29, 2017 - Published by group.bmj.com
An apparent case of non-accidental injury Guan Hao Tan and Rajat Bhattacharyya Arch Dis Child Educ Pract Ed published online August 28, 2017
Updated information and services can be found at: http://ep.bmj.com/content/early/2017/08/28/archdischild-2017-313068
These include:
References
This article cites 4 articles, 0 of which you can access for free at: http://ep.bmj.com/content/early/2017/08/28/archdischild-2017-313068 #BIBL
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To request permissions go to: http://group.bmj.com/group/rights-licensing/permissions To order reprints go to: http://journals.bmj.com/cgi/reprintform To subscribe to BMJ go to: http://group.bmj.com/subscribe/
Education & Practice Online First, published on August 28, 2017 as 10.1136/archdischild-2017-313068 Epilogue
An apparent case of non-accidental injury Guan Hao Tan,1 Rajat Bhattacharyya2
BACKGROUND A 4-year-old girl of mixed race origin presented with a 1-month history of spontaneous bruising and occasional gum bleeding raising concerns of non-accidental injury (NAI). There was no family history of bleeding tendencies. She was admitted for further investigations. Examination revealed a thriving girl with multiple bruises over her lower limbs. (figures 1 and 2). There was no hepatosplenomegaly or lymphadenopathy. Her initial full blood count is as follows: haemoglobin 12.1 g/dL, total white blood cell count 14.72x109/L (neutrophil 38%, lymphocyte 29%, monocyte 3%, eosinophil 28% and absolute eosinophil count 4.1x109/L). Her platelet count was slightly low at 135x109/L. Prothrombin time (PT) and activated partial thromboplastin time (aPTT) were normal. QUESTION 1 Apart from investigating for NAI, what features on investigation would distinguish between the differentials below?
A. B. C. D.
Immune thrombocytopenic purpura (ITP). Congenital platelet disorders. Acquired platelet dysfunction disorders. Clotting disorders, such as Von Willebrand disease (VWD).
Figure 1 Bruises on lower limbs.
Table 1 Platelet function study Platelet aggregation test
%
Normal range (%)
ADP 64–111 45↓ Arachidonic acid 52–110 30 ↓ Collagen 68–117 12 ↓ Epinephrine 46–122 17 ↓ Ristocetin 93 80–115 The Von Willebrand factor antigen was 98% (within normal range).
QUESTION 2 Given the above investigations, what could be the causes of the child’s bruising and petechiae?
Blood film review showed normal platelet morphology and no platelet clumps. Mean platelet volume was normal at 11.0 fL. Platelet distribution width was normal and platelet scatter plot on the histogram showed normal distribution. Platelet function test showed decreased aggregation with ADP, arachidonic acid, collagen and epinephrine, but normal aggregation with ristocetin (table 1), and a normal ristocetin cofactor assay. Factor VIII levels were normal; a raised IgE levels were 439 (18–100) IU/mL. Her stool specimen was negative for ova, cysts and parasites. QUESTION 3 What is the final diagnosis?
Answers are on page 02.
Figure 2 Bruises on lower limbs.
Tan GH, Bhattacharyya R. Arch Dis Child Educ Pract Ed 2017;0:1–2. doi:10.1136/archdischild-2017-313068
1
Copyright Article author (or their employer) 2017. Produced by BMJ Publishing Group Ltd under licence.
Downloaded from http://ep.bmj.com/ on August 29, 2017 - Published by group.bmj.com
Epilogue Answers to the questions on page 01 ANSWER TO QUESTION 1 Presentation with petechiae, bruises and gum bleeding suggests a defect in primary haemostasis, the common causes include thrombocytopaenia and platelet function defects; both may be either congenital or acquired. Careful blood film examination to look for platelet size and morphology, neutrophil inclusion is advised. VWD classically presents like a primary haemostatic disorder unless severe (type 3) where the presentation may mimic haemophilia (a disorder of secondary haemostasis). A raised aPTT may suggest VWD, but a normal aPTT does not exclude this diagnosis. Primary haemostasis is the cellular interaction of platelets and the endothelium, forming a platelet plug at the site of injury. Secondary haemostasis includes coagulation cascade activation by initiation, amplification and propagation resulting in stable fibrin clot formation. ANSWER TO QUESTION 2
IgE levels mounted in response to parasite causing mast-cell degranulation. In previous series, more than half of the patients with APDE had associated parasitic infection (ie, ascaris, hookworm andenterobius),4 with increased platelet surface IgG, related to eosinophilic response, interfering with platelet release and function.5 The platelet function study abnormalities are similar to Glanzmann thrombasthenia or storage pool disorder, but is reversible. The prognosis is excellent with all patients spontaneously recovering by 6–12 months. Guan Hao Tan,1 Rajat Bhattacharyya2 1
Department of General Paediatrics, KK Women’s and Children’s Hospital, Singapore 2 Department of Haematology and Oncology, KK Women’s and Children’s Hospital, Singapore Correspondence to Dr Guan Hao Tan, Department of General Paediatrics, KK Women’s and Children’s Hospital, 100 Bukit Timah Road, Singapore 229899, Singapore; tan.guan.hao@kkh.com.sg Competing interests None declared.
A. Von Willebrand disease B. Platelet function disorders C. Factor XIII deficiency.
Patient consent Obtained. Provenance and peer review Not commissioned; externally peer reviewed.
Given that there is mild thrombocytopenia with normal coagulation profile, we need to consider these differentials.
© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
ANSWER TO QUESTION 3 The clinical suspicion was that of acquired platelet dysfunction with eosinophilia (APDE)
She was started on oral tranexamic acid and an assessment by the social worker did not reveal further NAI concerns. On further follow-ups, her eosinophil and platelet count normalised over a period of 6 months, and her bruising completely resolved. Discussion APDE is a rare condition which is unique to Southeast Asian countries, but paediatric caucasian travellers may be affected.1 It mainly occurs in young children and adolescents of both genders, and rarely in adults.1 2 Presentations include unexplained painless ecchymoses, epistaxis and gingival bleeding. Typically, there is eosinophilia ranging from 3% to 69% of total white blood cells,2 3 with normal platelet counts, with some few exceptions where the thrombocytopenia is mild and transient.3 The platelet function tests are abnormal, with impaired platelet aggregation with arachidonic acid, collagen and ADP but normal aggregation to ristocetin. IgE is usually elevated. The pathogenesis is unknown, but postulated to be an inflammatory or infectious process, with the high
2
To cite Tan GH, Bhattacharyya R. Arch Dis Child Educ Pract Ed Published Online First: [please include Day Month Year]. doi:10.1136/archdischild-2017-313068 Received 24 March 2017 Accepted 16 July 2017 Arch Dis Child Educ Pract Ed 2017;0:1–2. doi:10.1136/ archdischild-2017-313068
References 1 Lee AC. Unusual hematologic disease affecting caucasian children traveling to Southeast Asia: acquired platelet dysfunction with eosinophilia. Hematol Rep 2012;4. 2 Laosombat V, Wongchanchailert M, Sattayasevana B, et al. Acquired platelet dysfunction with eosinophilia in children in the south of Thailand. Platelets 2001;12:5–14. 3 Suvatte V, Mahasandana C, Tanphaichitr V, et al. Acquired platelet dysfunction with eosinophilia: study of platelet function in 62 cases. Southeast Asian J Trop Med Public Health 1979;10:358. 4 Poon MC, Ng SC, Coppes MJ. Acquired platelet dysfunction with eosinophilia in white children. J Pediatr 1995;126:959–61. 5 Lucas GN. Acquired platelet dysfunction with eosinophilia (APDE). SLJCH 2009;31:89.
Tan GH, Bhattacharyya R. Arch Dis Child Educ Pract Ed 2017;0:1–2. doi:10.1136/archdischild-2017-313068
Downloaded from http://ep.bmj.com/ on August 29, 2017 - Published by group.bmj.com
An apparent case of non-accidental injury Guan Hao Tan and Rajat Bhattacharyya Arch Dis Child Educ Pract Ed published online August 28, 2017
Updated information and services can be found at: http://ep.bmj.com/content/early/2017/08/28/archdischild-2017-313068
These include:
References
This article cites 4 articles, 0 of which you can access for free at: http://ep.bmj.com/content/early/2017/08/28/archdischild-2017-313068 #BIBL
Email alerting service
Receive free email alerts when new articles cite this article. Sign up in the box at the top right corner of the online article.
Notes
To request permissions go to: http://group.bmj.com/group/rights-licensing/permissions To order reprints go to: http://journals.bmj.com/cgi/reprintform To subscribe to BMJ go to: http://group.bmj.com/subscribe/
