|Year : 2020 | Volume
| Issue : 3 | Page : 135-136
Immune thrombocytopenic purpura in a child with mucopolysaccharidoses
Nikhil Rajvanshi1, Manish Kumar2
1 Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
2 Department of Pediatrics, All India Institute of Medical Sciences, Gorakhpur, Uttar Pradesh, India
|Date of Submission||16-Mar-2020|
|Date of Acceptance||15-Apr-2020|
|Date of Web Publication||16-Sep-2020|
Dr. Manish Kumar
Department of Pediatrics, All India Institute of Medical Sciences, Gorakhpur - 273 008, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
Hematological manifestations in mucopolysaccharidoses (MPS) are relatively rare. We report a rare presentation of immune thrombocytopenic purpura with recurrent mucosal bleeds in a 5-year-old boy with MPS.
Keywords: Immune thrombocytopenic purpura, mucopolysaccharidoses, thrombocytopenia
|How to cite this article:|
Rajvanshi N, Kumar M. Immune thrombocytopenic purpura in a child with mucopolysaccharidoses. J Appl Hematol 2020;11:135-6
| Introduction|| |
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders characterized by the deficiency of enzymes required for the breakdown of glycosaminoglycan (GAG), which consequently accumulate to produce cellular abnormalities manifesting as multiple systemic abnormalities predominantly affecting the musculoskeletal, nervous and cardiac systems. Hematological manifestations are relatively rare. More so, there is a paucity of literature regarding children with MPS presenting with bleeding secondary to isolated thrombocytopenia.
| Case Report|| |
We report a case of a 5-year-old boy, a known case of global developmental delay, born to a nonconsanguineous marriage by normal vaginal delivery with no adverse perinatal events, who presented with complaints of bleeding from the nose. He had suffered from multiple similar episodes of epistaxis. Previous investigations revealed thrombocytopenia and child received platelet transfusion twice in the past month. On examination, the child had dysmorphic and coarse facies. Abdominal examination revealed umbilical hernia and hepatomegaly, while the musculoskeletal examination was significant for kyphosis and contractures in the distal interphalangeal joint of the little finger, ankle joint, and knee joint bilaterally. Ophthalmological examination showed no abnormality. The diagnosis of MPS was confirmed by the presence of GAG in the urine. Complete blood count revealed a platelet count of 1.2 × 109/L. Bone marrow aspiration with biopsy showed normocellular marrow with immature megakaryocytes suggestive of immune thrombocytopenic purpura (ITP). He was treated with corticosteroids, after which platelet count improved significantly and remained within the normal limits even after 5 months, on follow-up.
| Discussion|| |
Hematological manifestations in MPS are not common. Even rarer is scientific literature regarding isolated thrombocytopenia in the case of MPS. In fact, our PubMed search combining Mesh terms “Purpura, Thrombocytopenic, Idiopathic,” and “Mucopolysaccharidoses” using the Boolean operator “AND” yielded just one publication in the English language. Our search using other keywords and in other databases provided limited evidence reporting the occurrence of thrombocytopenia in MPS. Doǧan et al. reported a case of 5-year-old child with MPS type VI or Maroteaux-Lamy Syndrome who developed isolated thrombocytopenia while on galsulfatase treatment. In the absence of any other discernible cause of thrombocytopenia, the authors believed that thrombocytopenia might have been immune mediated. Uz et al. described a case of acute ITP in a 20-year-old man with Hunter Syndrome whose thrombocytopenia resolved after administration of intravenous immunoglobulin. Amartino et al. reported two cases of thrombocytopenia in children aged 14 and 9 years which resolved on enzyme replacement therapy. From India, Ramaraj et al. reported a case chronic ITP in a 9-year-old girl suffering from Sanfilippo type A disease who was treated with steroids. The pathogenesis of thrombocytopenia in MPS has eluded the scientific community. In an animal experimental model, Jadin et al. showed that hyaluronidase 2 (HYAL 2) deficient mice had mild thrombocytopenia, and they hypothesized that HYAL might have a hitherto unrecognized role in platelet homeostasis. Other explanations for thrombocytopenia in MPS are based on immune-mediated destruction either as a side effect to enzyme replacement therapy or more plausibly due to chronic antigenic stimulation resulting from GAG accumulation in various tissues.
It is, therefore, pertinent to reiterate that ITP should be considered in a child with MPS presenting with isolated thrombocytopenia with or without bleeding manifestation and after exclusion of other causes of thrombocytopenia, immunotherapy should be considered.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Doǧan M, Cesur Y, Peker E, Oner AF, Dogan SZ. Thrombocytopenia associated with galsulfase treatment. Hum Exp Toxicol 2011;30:768-71.
Uz B, Demiroglu H, Ozcebe OI. Hunter syndrome and new onset idiopathic thrombocytopenic purpura in a young patient. Ann Hematol 2012;91:303-4.
Amartino H, Sosa P, Richard L. Thrombocytopenia in hunter disease: Report of two cases. In annual symposium of the society for the study of inborn errors of metabolism. J Inherit Metab Dis 2010;33:1-197.
Ramaraj KP, Natarajan S, Ravikumar KG. Chronic idiopathic thrombocytopenic purpura in a child with Sanfilippo type A. Int J Contemp Pediatr 2017;2:467-9.
Jadin L, Wu X, Ding H, Frost GI, Onclinx C, Triggs-Raine B, et al
. Skeletal and hematological anomalies in HYAL2-deficient mice: A second type of mucopolysaccharidosis IX? FASEB J 2008;22:4316-26.