CASE REPORT article
Front. Pediatr.
Sec. General Pediatrics and Pediatric Emergency Care
Volume 13 - 2025 | doi: 10.3389/fped.2025.1649007
Coexistence of Acid Sphingomyelinase Deficiency Type A/B and Arnold-Chiari Malformation: A Novel Case Report
Provisionally accepted
Aelita Kamalova1,2Razilya Rakhmaeva1,2Gulnara Sageeva2Rezeda Saifullina2Adelina Raimova1Elena Gaichik1Dalal Nasr3Ayman A. Gobarah4,5
Ahmed Arafat1,6*- 1Kazan State Medical University, Kazan, Russia
- 2Pediatric department of the State Autonomous Heath Institution «Children’s Republican Clinical Hospital (CPCH) of the Ministry of Health of the Russian Federation, kazan, Russia
- 3Kids heart Medical Center Abu Dhabi, Abu Dhabi, United Arab Emirates
- 4Suez Canal University Faculty of Medicine, Ismailia, Egypt
- 5Dubai Academic Health Corporation, Dubai, United Arab Emirates
- 6Jiahui International Hospital Shanghai, Shanghai, China
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Backgr ound: Acid 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 Pr esentation: We 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.: This 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. Keywor ds: children; lysosomal diseases; Acid sphingomyelinase deficiency (ASMD) type A/B, Arnold-Chiari anomaly 1. Intr oduction Acid sphingomyelinase deficiency (ASMD) is a rare autosomal recessive disorder characterized by impaired lipid metabolism resulting from a deficiency
Keywords: Arnold-Chiari anomaly, Children, Acid sphingomyelinase deficiency (ASMD) type A/B, lysosomal diseases;, CNS - Central nervous system
Received: 18 Jun 2025; Accepted: 23 Jul 2025.
Copyright: © 2025 Kamalova, Rakhmaeva, Sageeva, Saifullina, Raimova, Gaichik, Nasr, A. Gobarah and Arafat. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Ahmed Arafat, Kazan State Medical University, Kazan, Russia
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