May–Hegglin anomaly: A rare hereditary autoimmune thrombocytopenia
Neonatal thrombocytopenia is a common entity encountered in neonatal intensive care unit. Diagnosis often becomes challenging because of broad range of possible clinical diagnoses. Careful evaluation and history taking are the backbone of sound diagnosis. During such diagnostic dilemma, investigatio...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Indian Journal of Health Sciences and Biomedical Research KLEU |
| Subjects: | |
| Online Access: | http://www.ijournalhs.org/article.asp?issn=2542-6214;year=2023;volume=16;issue=2;spage=316;epage=319;aulast=Singh |
| _version_ | 1797775161029558272 |
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| author | Vinaya Singh Mazhar Nasir Khan Sushma Malik Poonam Wade Vrinda Kulkarni |
| author_facet | Vinaya Singh Mazhar Nasir Khan Sushma Malik Poonam Wade Vrinda Kulkarni |
| author_sort | Vinaya Singh |
| collection | DOAJ |
| description | Neonatal thrombocytopenia is a common entity encountered in neonatal intensive care unit. Diagnosis often becomes challenging because of broad range of possible clinical diagnoses. Careful evaluation and history taking are the backbone of sound diagnosis. During such diagnostic dilemma, investigation as basic as peripheral smear examination can come to a rescue. Here, we present a rare case of neonatal autoimmune thrombocytopenia. On the basis of detailed history, careful examination, and basic investigations, diagnosis of May–Hegglin anomaly was made which was later confirmed by genetic studies (rare mutation in myosin heavy chain 9 gene). |
| first_indexed | 2024-03-12T22:31:45Z |
| format | Article |
| id | doaj.art-859dc4b199624662906d73ab8108e909 |
| institution | Directory Open Access Journal |
| issn | 2542-6214 2542-6222 |
| language | English |
| last_indexed | 2024-03-12T22:31:45Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Health Sciences and Biomedical Research KLEU |
| spelling | doaj.art-859dc4b199624662906d73ab8108e9092023-07-21T14:56:27ZengWolters Kluwer Medknow PublicationsIndian Journal of Health Sciences and Biomedical Research KLEU2542-62142542-62222023-01-0116231631910.4103/kleuhsj.kleuhsj_567_22May–Hegglin anomaly: A rare hereditary autoimmune thrombocytopeniaVinaya SinghMazhar Nasir KhanSushma MalikPoonam WadeVrinda KulkarniNeonatal thrombocytopenia is a common entity encountered in neonatal intensive care unit. Diagnosis often becomes challenging because of broad range of possible clinical diagnoses. Careful evaluation and history taking are the backbone of sound diagnosis. During such diagnostic dilemma, investigation as basic as peripheral smear examination can come to a rescue. Here, we present a rare case of neonatal autoimmune thrombocytopenia. On the basis of detailed history, careful examination, and basic investigations, diagnosis of May–Hegglin anomaly was made which was later confirmed by genetic studies (rare mutation in myosin heavy chain 9 gene).http://www.ijournalhs.org/article.asp?issn=2542-6214;year=2023;volume=16;issue=2;spage=316;epage=319;aulast=Singhdohle bodieshereditary neonatal thrombocytopeniamay–hegglin anomalymegakaryocytesmyosin heavy chain 9 mutation |
| spellingShingle | Vinaya Singh Mazhar Nasir Khan Sushma Malik Poonam Wade Vrinda Kulkarni May–Hegglin anomaly: A rare hereditary autoimmune thrombocytopenia Indian Journal of Health Sciences and Biomedical Research KLEU dohle bodies hereditary neonatal thrombocytopenia may–hegglin anomaly megakaryocytes myosin heavy chain 9 mutation |
| title | May–Hegglin anomaly: A rare hereditary autoimmune thrombocytopenia |
| title_full | May–Hegglin anomaly: A rare hereditary autoimmune thrombocytopenia |
| title_fullStr | May–Hegglin anomaly: A rare hereditary autoimmune thrombocytopenia |
| title_full_unstemmed | May–Hegglin anomaly: A rare hereditary autoimmune thrombocytopenia |
| title_short | May–Hegglin anomaly: A rare hereditary autoimmune thrombocytopenia |
| title_sort | may hegglin anomaly a rare hereditary autoimmune thrombocytopenia |
| topic | dohle bodies hereditary neonatal thrombocytopenia may–hegglin anomaly megakaryocytes myosin heavy chain 9 mutation |
| url | http://www.ijournalhs.org/article.asp?issn=2542-6214;year=2023;volume=16;issue=2;spage=316;epage=319;aulast=Singh |
| work_keys_str_mv | AT vinayasingh mayhegglinanomalyararehereditaryautoimmunethrombocytopenia AT mazharnasirkhan mayhegglinanomalyararehereditaryautoimmunethrombocytopenia AT sushmamalik mayhegglinanomalyararehereditaryautoimmunethrombocytopenia AT poonamwade mayhegglinanomalyararehereditaryautoimmunethrombocytopenia AT vrindakulkarni mayhegglinanomalyararehereditaryautoimmunethrombocytopenia |