Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report
BackgroundAcid sphingomyelinase deficiency (ASMD) type A/B, a rare lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene, presents with variable visceral and neurological manifestations. Arnold-Chiari malformation is a structural defect of the cerebellum and brainstem with disti...
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Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1649007/full |
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| author | Aelita Kamalova Aelita Kamalova Razilya Rakhmaeva Razilya Rakhmaeva Gulnara Sageeva Rezeda Safiullina Adelina Raimova Elena Gaichik Dalal Nasr Ayman A. Gobarah Ayman A. Gobarah Ahmed Arafat Ahmed Arafat |
| author_facet | Aelita Kamalova Aelita Kamalova Razilya Rakhmaeva Razilya Rakhmaeva Gulnara Sageeva Rezeda Safiullina Adelina Raimova Elena Gaichik Dalal Nasr Ayman A. Gobarah Ayman A. Gobarah Ahmed Arafat Ahmed Arafat |
| author_sort | Aelita Kamalova |
| collection | DOAJ |
| description | BackgroundAcid sphingomyelinase deficiency (ASMD) type A/B, a rare lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene, presents with variable visceral and neurological manifestations. Arnold-Chiari malformation is a structural defect of the cerebellum and brainstem with distinct pathogenesis and clinical course. To our knowledge, the coexistence of these two conditions has not been previously reported.Case presentationWe report the case of a 13-year-old patient diagnosed with ASMD type A/B in combination with Arnold-Chiari type I malformation, and secondary interstitial lung disease. The case presented a diagnostic challenge due to overlapping neurological features common to both conditions. The patient exhibited isolated cerebellar signs without MRI evidence of central nervous system involvement typically associated with ASMD. These findings, along with the radiological identification of cerebellar tonsillar herniation, supported Arnold-Chiari I malformation as the primary contributor to the patient's neurological deficits.ConclusionThis is the first documented case of concurrent ASMD type A/B and Arnold-Chiari malformation. The clinical overlap in neurological manifestations complicates differential diagnosis and highlights the need for careful neuroimaging assessment in patients with ASMD presenting with atypical or progressive neurological symptoms. This unique co-occurrence may suggest a broader phenotypic spectrum or a coincidental association requiring further investigation. |
| format | Article |
| id | doaj-art-9f32166f1e4f46f9928505590bf478b0 |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-9f32166f1e4f46f9928505590bf478b02025-08-25T05:25:33ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-08-011310.3389/fped.2025.16490071649007Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case reportAelita Kamalova0Aelita Kamalova1Razilya Rakhmaeva2Razilya Rakhmaeva3Gulnara Sageeva4Rezeda Safiullina5Adelina Raimova6Elena Gaichik7Dalal Nasr8Ayman A. Gobarah9Ayman A. Gobarah10Ahmed Arafat11Ahmed Arafat12Pediatrics Department, Kazan State Medical University of the Ministry of Health of the Russian Federation, Kazan, RussiaPediatric Department of the State Autonomous Heath Institution, Children’s Republican Clinical Hospital (CPCH) of the Ministry of Health of the Russian Federation, Kazan, RussiaPediatrics Department, Kazan State Medical University of the Ministry of Health of the Russian Federation, Kazan, RussiaPediatric Department of the State Autonomous Heath Institution, Children’s Republican Clinical Hospital (CPCH) of the Ministry of Health of the Russian Federation, Kazan, RussiaPediatric Department of the State Autonomous Heath Institution, Children’s Republican Clinical Hospital (CPCH) of the Ministry of Health of the Russian Federation, Kazan, RussiaPediatric Department of the State Autonomous Heath Institution, Children’s Republican Clinical Hospital (CPCH) of the Ministry of Health of the Russian Federation, Kazan, RussiaPediatrics Department, Kazan State Medical University of the Ministry of Health of the Russian Federation, Kazan, RussiaPediatrics Department, Kazan State Medical University of the Ministry of Health of the Russian Federation, Kazan, RussiaPediatrics Department, Kids Heart Medical Center, Abu Dhabi, United Arab EmiratesPediatrics Department, Faculty of Medicine, Suez Canal University, Ismailia, EgyptPediatrics Department, Dubai Academic Health Corporation, Dubai, United Arab EmiratesPediatrics Department, Kazan State Medical University of the Ministry of Health of the Russian Federation, Kazan, RussiaPediatrics Department, Jiahui International Hospital, Shanghai, ChinaBackgroundAcid sphingomyelinase deficiency (ASMD) type A/B, a rare lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene, presents with variable visceral and neurological manifestations. Arnold-Chiari malformation is a structural defect of the cerebellum and brainstem with distinct pathogenesis and clinical course. To our knowledge, the coexistence of these two conditions has not been previously reported.Case presentationWe report the case of a 13-year-old patient diagnosed with ASMD type A/B in combination with Arnold-Chiari type I malformation, and secondary interstitial lung disease. The case presented a diagnostic challenge due to overlapping neurological features common to both conditions. The patient exhibited isolated cerebellar signs without MRI evidence of central nervous system involvement typically associated with ASMD. These findings, along with the radiological identification of cerebellar tonsillar herniation, supported Arnold-Chiari I malformation as the primary contributor to the patient's neurological deficits.ConclusionThis is the first documented case of concurrent ASMD type A/B and Arnold-Chiari malformation. The clinical overlap in neurological manifestations complicates differential diagnosis and highlights the need for careful neuroimaging assessment in patients with ASMD presenting with atypical or progressive neurological symptoms. This unique co-occurrence may suggest a broader phenotypic spectrum or a coincidental association requiring further investigation.https://www.frontiersin.org/articles/10.3389/fped.2025.1649007/fullArnold-Chiari anomalychildrenacid sphingomyelinase deficiency (ASMD) type A/Blysosomal diseasescentral nervous system (CNS) |
| spellingShingle | Aelita Kamalova Aelita Kamalova Razilya Rakhmaeva Razilya Rakhmaeva Gulnara Sageeva Rezeda Safiullina Adelina Raimova Elena Gaichik Dalal Nasr Ayman A. Gobarah Ayman A. Gobarah Ahmed Arafat Ahmed Arafat Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report Frontiers in Pediatrics Arnold-Chiari anomaly children acid sphingomyelinase deficiency (ASMD) type A/B lysosomal diseases central nervous system (CNS) |
| title | Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report |
| title_full | Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report |
| title_fullStr | Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report |
| title_full_unstemmed | Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report |
| title_short | Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report |
| title_sort | coexistence of acid sphingomyelinase deficiency type a b and arnold chiari malformation a novel case report |
| topic | Arnold-Chiari anomaly children acid sphingomyelinase deficiency (ASMD) type A/B lysosomal diseases central nervous system (CNS) |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1649007/full |
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