An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis
Abstract Background Lysosomal acid lipase (LAL) deficiency is hyperinflammatory disease caused by the deficiency of the enzyme which hydrolyzes cholesterol esters and triglycerides; thus, there is pathologic accumulation of cholesterol in various tissues. Wolman disease (WD) and cholesteryl ester st...
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SpringerOpen
2024-12-01
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| Series: | Egyptian Journal of Medical Human Genetics |
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| Online Access: | https://doi.org/10.1186/s43042-024-00629-9 |
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| author | Rabab El Hawary Safa Meshaal Alia S. Eldash Sohilla Lotfy Dalia Abd Elaziz Radwa Alkady Rania Darwish Aya Erfan Mai Saad Engy Chohayeb Nermeen Galal Aisha M. Elmarsafy |
| author_facet | Rabab El Hawary Safa Meshaal Alia S. Eldash Sohilla Lotfy Dalia Abd Elaziz Radwa Alkady Rania Darwish Aya Erfan Mai Saad Engy Chohayeb Nermeen Galal Aisha M. Elmarsafy |
| author_sort | Rabab El Hawary |
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| description | Abstract Background Lysosomal acid lipase (LAL) deficiency is hyperinflammatory disease caused by the deficiency of the enzyme which hydrolyzes cholesterol esters and triglycerides; thus, there is pathologic accumulation of cholesterol in various tissues. Wolman disease (WD) and cholesteryl ester storage disease (CESD) are two phenotypes of the same disorder with low or absent LAL activity. CESD has lower mortality and presents by hyperlipidemia, atherosclerosis, and hepatic fibrosis, while WD classic presentations include hepatosplenomegaly, malabsorption, failure to thrive, and organ-specific symptoms such as hepatic damage or adrenal calcification. Case presentation Herein, we describe a 3-month-old female patient with an unusual presentation of Wolman disease in the form of secondary hemophagocytic lymphohistiocytosis (HLH). The patient presented with severe diarrhea, dehydration, metabolic acidosis, and sepsis. Laboratory workup revealed anemia and thrombocytopenia. Bone marrow aspirate showed hypocellular marrow with few macrophage cells showing phagocytosis. The patient had elevated levels of ferritin, triglycerides, fibrinogen, and soluble CD25, and thus, the diagnosis of HLH was suspected. Next-generation sequencing was performed, and it revealed one homozygous previously reported pathogenic variant in LIPA gene: c.398del; p. (Ser133Ter); thus, the diagnosis of Wolman disease was confirmed. Conclusions Wolman disease should be suspected in infants with HLH criteria, as the early diagnosis will improve outcomes in these patients especially if enzyme replacement therapy is available. |
| format | Article |
| id | doaj-art-0e7ed04bf8b2430db4c7eb1f07873b7d |
| institution | Kabale University |
| issn | 2090-2441 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj-art-0e7ed04bf8b2430db4c7eb1f07873b7d2025-01-05T12:32:22ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412024-12-0125111210.1186/s43042-024-00629-9An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosisRabab El Hawary0Safa Meshaal1Alia S. Eldash2Sohilla Lotfy3Dalia Abd Elaziz4Radwa Alkady5Rania Darwish6Aya Erfan7Mai Saad8Engy Chohayeb9Nermeen Galal10Aisha M. Elmarsafy11Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo UniversityDepartment of Clinical and Chemical Pathology, Faculty of Medicine, Cairo UniversityDepartment of Clinical and Chemical Pathology, Faculty of Medicine, Cairo UniversityDepartment of Pediatrics, Faculty of Medicine, Cairo UniversityDepartment of Pediatrics, Faculty of Medicine, Cairo UniversityDepartment of Pediatrics, Faculty of Medicine, Cairo UniversityDepartment of Clinical and Chemical Pathology, Faculty of Medicine, Cairo UniversityDepartment of Clinical and Chemical Pathology, Faculty of Medicine, Cairo UniversityDepartment of Pediatrics, Faculty of Medicine, Cairo UniversityDepartment of Pediatrics, Faculty of Medicine, Cairo UniversityDepartment of Pediatrics, Faculty of Medicine, Cairo UniversityDepartment of Pediatrics, Faculty of Medicine, Cairo UniversityAbstract Background Lysosomal acid lipase (LAL) deficiency is hyperinflammatory disease caused by the deficiency of the enzyme which hydrolyzes cholesterol esters and triglycerides; thus, there is pathologic accumulation of cholesterol in various tissues. Wolman disease (WD) and cholesteryl ester storage disease (CESD) are two phenotypes of the same disorder with low or absent LAL activity. CESD has lower mortality and presents by hyperlipidemia, atherosclerosis, and hepatic fibrosis, while WD classic presentations include hepatosplenomegaly, malabsorption, failure to thrive, and organ-specific symptoms such as hepatic damage or adrenal calcification. Case presentation Herein, we describe a 3-month-old female patient with an unusual presentation of Wolman disease in the form of secondary hemophagocytic lymphohistiocytosis (HLH). The patient presented with severe diarrhea, dehydration, metabolic acidosis, and sepsis. Laboratory workup revealed anemia and thrombocytopenia. Bone marrow aspirate showed hypocellular marrow with few macrophage cells showing phagocytosis. The patient had elevated levels of ferritin, triglycerides, fibrinogen, and soluble CD25, and thus, the diagnosis of HLH was suspected. Next-generation sequencing was performed, and it revealed one homozygous previously reported pathogenic variant in LIPA gene: c.398del; p. (Ser133Ter); thus, the diagnosis of Wolman disease was confirmed. Conclusions Wolman disease should be suspected in infants with HLH criteria, as the early diagnosis will improve outcomes in these patients especially if enzyme replacement therapy is available.https://doi.org/10.1186/s43042-024-00629-9Cholesteryl ester storage diseaseEgyptHemophagocytic lymphohistiocytosis deficiencyLIPA geneLALWolman disease |
| spellingShingle | Rabab El Hawary Safa Meshaal Alia S. Eldash Sohilla Lotfy Dalia Abd Elaziz Radwa Alkady Rania Darwish Aya Erfan Mai Saad Engy Chohayeb Nermeen Galal Aisha M. Elmarsafy An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis Egyptian Journal of Medical Human Genetics Cholesteryl ester storage disease Egypt Hemophagocytic lymphohistiocytosis deficiency LIPA gene LAL Wolman disease |
| title | An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis |
| title_full | An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis |
| title_fullStr | An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis |
| title_full_unstemmed | An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis |
| title_short | An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis |
| title_sort | egyptian child with wolman disease presenting with hemophagocytic lymphohistiocytosis |
| topic | Cholesteryl ester storage disease Egypt Hemophagocytic lymphohistiocytosis deficiency LIPA gene LAL Wolman disease |
| url | https://doi.org/10.1186/s43042-024-00629-9 |
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