Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report
Mucopolysaccharidoses (MPS) are lysosomal storage disorders resulting from deficiencies in specific enzymes (lysosomal hydrolases), leading to the accumulation of excessive mucopolysaccharides (glycosaminoglycan’s, GAGs). These conditions are typically inherited in an autosomal recessive pattern, ex...
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Elsevier
2025-09-01
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| Series: | Radiology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S193004332500545X |
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| author | Muluken Yifru Gebresilassie, MD Abdudin Heru Mehammed, MD Misganaw Yigletie Damtie, MD Hawi Dida Midekso, MD Natnael Alemu Bezabih, MD Michael Teklehaimanot Abera, MD Atsede Birhanu Worku, MD |
| author_facet | Muluken Yifru Gebresilassie, MD Abdudin Heru Mehammed, MD Misganaw Yigletie Damtie, MD Hawi Dida Midekso, MD Natnael Alemu Bezabih, MD Michael Teklehaimanot Abera, MD Atsede Birhanu Worku, MD |
| author_sort | Muluken Yifru Gebresilassie, MD |
| collection | DOAJ |
| description | Mucopolysaccharidoses (MPS) are lysosomal storage disorders resulting from deficiencies in specific enzymes (lysosomal hydrolases), leading to the accumulation of excessive mucopolysaccharides (glycosaminoglycan’s, GAGs). These conditions are typically inherited in an autosomal recessive pattern, except MPS type II, which is X-linked. In this case report, we present a 5-year-old male child with global developmental delay, severe speech and motor impairments. He was born at home after an uneventful prenatal and postnatal period, with healthy older siblings. Physical examination revealed obesity, coarse facial features, macrocephaly, a flat nasal bridge, and kyphosis. X-rays of the bilateral wrists and hands, as well as lateral lumbosacral spine images, demonstrated proximal metacarpal pointing, gibbus deformity with anterior inferior vertebral body beaking, and posterior vertebral scalloping. MRI revealed a J-shaped sella turcica, hydrocephalus, and diffuse white matter changes. These radiological findings strongly support a diagnosis of MPS. This case highlights the role of radiology in diagnosing such disorders. |
| format | Article |
| id | doaj-art-87f139bf9b964fde82008a516e547167 |
| institution | Kabale University |
| issn | 1930-0433 |
| language | English |
| publishDate | 2025-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj-art-87f139bf9b964fde82008a516e5471672025-08-20T03:50:22ZengElsevierRadiology Case Reports1930-04332025-09-012094567457110.1016/j.radcr.2025.05.106Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case reportMuluken Yifru Gebresilassie, MD0Abdudin Heru Mehammed, MD1Misganaw Yigletie Damtie, MD2Hawi Dida Midekso, MD3Natnael Alemu Bezabih, MD4Michael Teklehaimanot Abera, MD5Atsede Birhanu Worku, MD6Department of Radiology, St. Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia; Corresponding author.Department of Radiology, St. Paul's Hospital Millennium Medical College, Addis Ababa, EthiopiaDepartment of Radiology, St. Paul's Hospital Millennium Medical College, 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, EthiopiaDepartment of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, EthiopiaDepartment of Radiology, Woldia University, Woldia, Amhara, EthiopiaMucopolysaccharidoses (MPS) are lysosomal storage disorders resulting from deficiencies in specific enzymes (lysosomal hydrolases), leading to the accumulation of excessive mucopolysaccharides (glycosaminoglycan’s, GAGs). These conditions are typically inherited in an autosomal recessive pattern, except MPS type II, which is X-linked. In this case report, we present a 5-year-old male child with global developmental delay, severe speech and motor impairments. He was born at home after an uneventful prenatal and postnatal period, with healthy older siblings. Physical examination revealed obesity, coarse facial features, macrocephaly, a flat nasal bridge, and kyphosis. X-rays of the bilateral wrists and hands, as well as lateral lumbosacral spine images, demonstrated proximal metacarpal pointing, gibbus deformity with anterior inferior vertebral body beaking, and posterior vertebral scalloping. MRI revealed a J-shaped sella turcica, hydrocephalus, and diffuse white matter changes. These radiological findings strongly support a diagnosis of MPS. This case highlights the role of radiology in diagnosing such disorders.http://www.sciencedirect.com/science/article/pii/S193004332500545XMucopolysaccharidosisHurler syndromeHunter syndromeMorquio syndromeEthiopia |
| spellingShingle | Muluken Yifru Gebresilassie, MD Abdudin Heru Mehammed, MD Misganaw Yigletie Damtie, MD Hawi Dida Midekso, MD Natnael Alemu Bezabih, MD Michael Teklehaimanot Abera, MD Atsede Birhanu Worku, MD Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report Radiology Case Reports Mucopolysaccharidosis Hurler syndrome Hunter syndrome Morquio syndrome Ethiopia |
| title | Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report |
| title_full | Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report |
| title_fullStr | Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report |
| title_full_unstemmed | Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report |
| title_short | Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report |
| title_sort | imaging hallmarks of mucopolysaccharidosis in a young ethiopian boy a case report |
| topic | Mucopolysaccharidosis Hurler syndrome Hunter syndrome Morquio syndrome Ethiopia |
| url | http://www.sciencedirect.com/science/article/pii/S193004332500545X |
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