Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report
Niemann-Pick disease (NPD) is an autosomal recessive disease caused by deficient lysosomal enzyme or faulty cholesterol transport. A 9-year-old male patient presented with 6 years of abdominal swelling, previously treated as tuberculosis. He exhibited hepatosplenomegaly, delayed growth, and pancytop...
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| Language: | English |
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Elsevier
2025-03-01
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| Series: | Radiology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043324012901 |
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| author | Eyasu Wakjira Korsa, MD Samuel Sisay Hailu, MD Hewan Asfaw, MD Hanna Damtew, MD Daniel Zewdneh Solomon, MD |
| author_facet | Eyasu Wakjira Korsa, MD Samuel Sisay Hailu, MD Hewan Asfaw, MD Hanna Damtew, MD Daniel Zewdneh Solomon, MD |
| author_sort | Eyasu Wakjira Korsa, MD |
| collection | DOAJ |
| description | Niemann-Pick disease (NPD) is an autosomal recessive disease caused by deficient lysosomal enzyme or faulty cholesterol transport. A 9-year-old male patient presented with 6 years of abdominal swelling, previously treated as tuberculosis. He exhibited hepatosplenomegaly, delayed growth, and pancytopenia. Imaging revealed hepatosplenomegaly, a focal splenic infarct, diffuse interstitial septal thickening, and ground glass opacities in the lungs, raising suspicion of a storage disease. Further biopsies, of the bone marrow and liver, revealed the presence of foam cells with abundant multivacuolated cytoplasm and central round nuclei, suggesting NPD. Genetic testing and specific enzyme activity tests are unavailable in our setting. This case highlights the diagnostic challenges of rare disease in resource-limited settings, often mistaken for more common conditions like tuberculosis and lymphoma. |
| format | Article |
| id | doaj-art-de86712f1be94ce6944111ecc0554627 |
| institution | Kabale University |
| issn | 1930-0433 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj-art-de86712f1be94ce6944111ecc05546272025-01-18T05:03:51ZengElsevierRadiology Case Reports1930-04332025-03-0120314561460Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case reportEyasu Wakjira Korsa, MD0Samuel Sisay Hailu, MD1Hewan Asfaw, MD2Hanna Damtew, MD3Daniel Zewdneh Solomon, MD4Department of Radiology, Wudassie Diagnositic Center, Addis Ababa, Ethiopia; Department of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia; Corresponding author.Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United StatesDepartment of Pediatrics and Child Health, Addis Ababa University, College of Health Sciences, Addis Ababa, EthiopiaDepartment of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, EthiopiaDepartment of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, EthiopiaNiemann-Pick disease (NPD) is an autosomal recessive disease caused by deficient lysosomal enzyme or faulty cholesterol transport. A 9-year-old male patient presented with 6 years of abdominal swelling, previously treated as tuberculosis. He exhibited hepatosplenomegaly, delayed growth, and pancytopenia. Imaging revealed hepatosplenomegaly, a focal splenic infarct, diffuse interstitial septal thickening, and ground glass opacities in the lungs, raising suspicion of a storage disease. Further biopsies, of the bone marrow and liver, revealed the presence of foam cells with abundant multivacuolated cytoplasm and central round nuclei, suggesting NPD. Genetic testing and specific enzyme activity tests are unavailable in our setting. This case highlights the diagnostic challenges of rare disease in resource-limited settings, often mistaken for more common conditions like tuberculosis and lymphoma.http://www.sciencedirect.com/science/article/pii/S1930043324012901Niemann-Pick diseaseLysosomal storage diseaseFoam cellsAcid sphingomyelinase deficiency |
| spellingShingle | Eyasu Wakjira Korsa, MD Samuel Sisay Hailu, MD Hewan Asfaw, MD Hanna Damtew, MD Daniel Zewdneh Solomon, MD Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report Radiology Case Reports Niemann-Pick disease Lysosomal storage disease Foam cells Acid sphingomyelinase deficiency |
| title | Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report |
| title_full | Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report |
| title_fullStr | Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report |
| title_full_unstemmed | Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report |
| title_short | Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report |
| title_sort | niemann pick disease with visceral and pulmonary involvement in a resource limited setting a rare case report |
| topic | Niemann-Pick disease Lysosomal storage disease Foam cells Acid sphingomyelinase deficiency |
| url | http://www.sciencedirect.com/science/article/pii/S1930043324012901 |
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