Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report
Abstract Background Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in RAB27A gene. It is primarily characterized by a combination of partial albinism, hemophagocytic lymphohistiocytosis (HLH) or other immunodeficiency. However, neurological involvement at o...
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| Format: | Article |
| Language: | English |
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BMC
2021-05-01
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| Series: | BMC Pediatrics |
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| Online Access: | https://doi.org/10.1186/s12887-021-02720-1 |
| _version_ | 1818437488442605568 |
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| author | Qing Zhang Yun-Ze Zhao Hong-Hao Ma Dong Wang Nan Zhang Zhi-Gang Li Rui Zhang |
| author_facet | Qing Zhang Yun-Ze Zhao Hong-Hao Ma Dong Wang Nan Zhang Zhi-Gang Li Rui Zhang |
| author_sort | Qing Zhang |
| collection | DOAJ |
| description | Abstract Background Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in RAB27A gene. It is primarily characterized by a combination of partial albinism, hemophagocytic lymphohistiocytosis (HLH) or other immunodeficiency. However, neurological involvement at onset in GS2 and treatment has rarely been described. Case presentation We describe a 3-year-old boy with GS2 in an Asian Chinese family. He presented with progressive neurological abnormalities following unremitting fever at onset. He developed HLH during the clinical course. A novel homozygous mutation (c.1 A > G) in RAB27A gene was subsequently identified. He was then treated by HLH-1994 protocol combined with ruxolitinib and experienced a dramatic remission. He subsequently underwent a successful haploidentical hematopoietic stem cell transplantation and stayed at a good condition. Conclusions We reported an atypical form of GS2 manifesting as severe central nervous system involvement at onset and subsequent HLH, which was successfully rescued in time. This case also highlights the need for early consideration of immunologic and genetic evaluation for HLH in unexplained neuroinflammation in the diagnostic work up. |
| first_indexed | 2024-12-14T17:25:28Z |
| format | Article |
| id | doaj.art-2884ec061ba8437e9611debf6bd165f9 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-12-14T17:25:28Z |
| publishDate | 2021-05-01 |
| publisher | BMC |
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| series | BMC Pediatrics |
| spelling | doaj.art-2884ec061ba8437e9611debf6bd165f92022-12-21T22:53:13ZengBMCBMC Pediatrics1471-24312021-05-012111710.1186/s12887-021-02720-1Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case reportQing Zhang0Yun-Ze Zhao1Hong-Hao Ma2Dong Wang3Nan Zhang4Zhi-Gang Li5Rui Zhang6Hematologic Disease Laboratory; Hematology Center; Beijing Key Laboratory of Pediatric Hematology Oncology; National Key Discipline of Pediatrics (Capital Medical University); Key Laboratory of Major Diseases in Children, Ministry of Education; Beijing Pediatric Research Institute;, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthHematology Center; Beijing Key Laboratory of Pediatric Hematology Oncology; National Key Discipline of Pediatrics (Capital Medical University); Key Laboratory of Major Diseases in Children, Ministry of Education; Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthHematology Center; Beijing Key Laboratory of Pediatric Hematology Oncology; National Key Discipline of Pediatrics (Capital Medical University); Key Laboratory of Major Diseases in Children, Ministry of Education; Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthHematology Center; Beijing Key Laboratory of Pediatric Hematology Oncology; National Key Discipline of Pediatrics (Capital Medical University); Key Laboratory of Major Diseases in Children, Ministry of Education; Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthDepartment of Pathology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthHematologic Disease Laboratory; Hematology Center; Beijing Key Laboratory of Pediatric Hematology Oncology; National Key Discipline of Pediatrics (Capital Medical University); Key Laboratory of Major Diseases in Children, Ministry of Education; Beijing Pediatric Research Institute;, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthHematology Center; Beijing Key Laboratory of Pediatric Hematology Oncology; National Key Discipline of Pediatrics (Capital Medical University); Key Laboratory of Major Diseases in Children, Ministry of Education; Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthAbstract Background Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in RAB27A gene. It is primarily characterized by a combination of partial albinism, hemophagocytic lymphohistiocytosis (HLH) or other immunodeficiency. However, neurological involvement at onset in GS2 and treatment has rarely been described. Case presentation We describe a 3-year-old boy with GS2 in an Asian Chinese family. He presented with progressive neurological abnormalities following unremitting fever at onset. He developed HLH during the clinical course. A novel homozygous mutation (c.1 A > G) in RAB27A gene was subsequently identified. He was then treated by HLH-1994 protocol combined with ruxolitinib and experienced a dramatic remission. He subsequently underwent a successful haploidentical hematopoietic stem cell transplantation and stayed at a good condition. Conclusions We reported an atypical form of GS2 manifesting as severe central nervous system involvement at onset and subsequent HLH, which was successfully rescued in time. This case also highlights the need for early consideration of immunologic and genetic evaluation for HLH in unexplained neuroinflammation in the diagnostic work up.https://doi.org/10.1186/s12887-021-02720-1Griscelli syndrome type 2RAB27AHemophagocytic lymphohistiocytosisCentral nervous system involvement |
| spellingShingle | Qing Zhang Yun-Ze Zhao Hong-Hao Ma Dong Wang Nan Zhang Zhi-Gang Li Rui Zhang Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report BMC Pediatrics Griscelli syndrome type 2 RAB27A Hemophagocytic lymphohistiocytosis Central nervous system involvement |
| title | Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report |
| title_full | Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report |
| title_fullStr | Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report |
| title_full_unstemmed | Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report |
| title_short | Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report |
| title_sort | successful rescue of a lethal griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis a case report |
| topic | Griscelli syndrome type 2 RAB27A Hemophagocytic lymphohistiocytosis Central nervous system involvement |
| url | https://doi.org/10.1186/s12887-021-02720-1 |
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