Moyamoya syndrome in Schimke immuno-osseous dysplasia
Introduction. Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive multisystem disorder associated with biallelic mutations of the SMAR-CAL1 gene. Vascular central nervous system complications in the form of Moyamoya syndrome (MMS) have been reported as a comorbidity in nearly half...
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Military Health Department, Ministry of Defance, Serbia
2023-01-01
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| Series: | Vojnosanitetski Pregled |
| Subjects: | |
| Online Access: | https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502200022V.pdf |
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| author | Vujić Ana Obradović Slobodan Igrutinović Zoran Protrka Zoran Janković Marijana Radovanović Marija Stajić Nataša Medović Raša Janković Sveta |
| author_facet | Vujić Ana Obradović Slobodan Igrutinović Zoran Protrka Zoran Janković Marijana Radovanović Marija Stajić Nataša Medović Raša Janković Sveta |
| author_sort | Vujić Ana |
| collection | DOAJ |
| description | Introduction. Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive multisystem disorder associated with biallelic mutations of the SMAR-CAL1 gene. Vascular central nervous system complications in the form of Moyamoya syndrome (MMS) have been reported as a comorbidity in nearly half of the patients clinically presenting with severe migraine-like headaches, transient ischemic attacks (TIA), and ischemic or hemorrhagic infarctions. We present an illustrative case of an infantile form of SIOD with MMS, with a review of the latest diagnostic possibilities, as well as current diagnostic and therapeutic dilemmas in managing SIOD. Case report. We present a female patient with the infantile form of SIOD. The proband was born small for gestational age in the 34th gestation week with characteristic dysmorphic features. Genetic testing found a biallelic, nonsense mutation c.2542G>T in the SMARCAL1 gene. The patient presented early with TIA, seizures, and recurrent ischemic strokes. Magnetic resonance imaging (MRI) confirmed the presence of progressive brain atrophy with bilateral occlusion/stenosis of middle cerebral artery and anterior cerebral artery and a smoke-like collateral vessel appearance consistent with the MMS. At the age of 5 years and 9 months, the patient developed a high fever and cough with unknown cause, with a low erythrocyte and white blood cell count during four weeks, with a poor therapeutic response to antibiotics, transfusion of red blood cells, and granulocyte growth factor. She later died. Conclusion. Patients with SIOD may present progressive cerebral vascular changes and clinical neurologic deterioration early in the course of the disease. In such patients, early diagnosis and preventive revascularization surgery are of paramount importance. In diagnosing MMS, MRI angiography can be an appropriate substitute for standard invasive cerebral angiography. |
| first_indexed | 2024-03-13T06:23:21Z |
| format | Article |
| id | doaj.art-0a3c5301e0e74ed5952de6bae93b3b5d |
| institution | Directory Open Access Journal |
| issn | 0042-8450 2406-0720 |
| language | English |
| last_indexed | 2024-03-13T06:23:21Z |
| publishDate | 2023-01-01 |
| publisher | Military Health Department, Ministry of Defance, Serbia |
| record_format | Article |
| series | Vojnosanitetski Pregled |
| spelling | doaj.art-0a3c5301e0e74ed5952de6bae93b3b5d2023-06-09T10:44:51ZengMilitary Health Department, Ministry of Defance, SerbiaVojnosanitetski Pregled0042-84502406-07202023-01-0180327027410.2298/VSP210829022V0042-84502200022VMoyamoya syndrome in Schimke immuno-osseous dysplasiaVujić Ana0https://orcid.org/0000-0002-2163-6898Obradović Slobodan1Igrutinović Zoran2https://orcid.org/0000-0002-9857-6475Protrka Zoran3https://orcid.org/0000-0001-5510-581XJanković Marijana4Radovanović Marija5https://orcid.org/0000-0002-5764-9287Stajić Nataša6Medović Raša7Janković Sveta8University Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia + University of Kragujevac, Faculty of Medical Sciences, Kragujevac, SerbiaUniversity Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia + University of Kragujevac, Faculty of Medical Sciences, Kragujevac, SerbiaUniversity Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia + University of Kragujevac, Faculty of Medical Sciences, Kragujevac, SerbiaUniversity of Kragujevac, Faculty of Medical Sciences, Kragujevac, Serbia + University Clinical Center Kragujevac, Obstetrics and Gynecology Clinic, Kragujevac, SerbiaUniversity of Kragujevac, Faculty of Medical Sciences, Kragujevac, SerbiaUniversity Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia Institute for Mother and Child Health Care of Serbia “Dr. Vukan Čupić”, Belgrade, Serbia + University of Belgrade, Faculty of Medicine, Belgrade, SerbiaUniversity Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia + University of Kragujevac, Faculty of Medical Sciences, Kragujevac, SerbiaUniversity Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, SerbiaIntroduction. Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive multisystem disorder associated with biallelic mutations of the SMAR-CAL1 gene. Vascular central nervous system complications in the form of Moyamoya syndrome (MMS) have been reported as a comorbidity in nearly half of the patients clinically presenting with severe migraine-like headaches, transient ischemic attacks (TIA), and ischemic or hemorrhagic infarctions. We present an illustrative case of an infantile form of SIOD with MMS, with a review of the latest diagnostic possibilities, as well as current diagnostic and therapeutic dilemmas in managing SIOD. Case report. We present a female patient with the infantile form of SIOD. The proband was born small for gestational age in the 34th gestation week with characteristic dysmorphic features. Genetic testing found a biallelic, nonsense mutation c.2542G>T in the SMARCAL1 gene. The patient presented early with TIA, seizures, and recurrent ischemic strokes. Magnetic resonance imaging (MRI) confirmed the presence of progressive brain atrophy with bilateral occlusion/stenosis of middle cerebral artery and anterior cerebral artery and a smoke-like collateral vessel appearance consistent with the MMS. At the age of 5 years and 9 months, the patient developed a high fever and cough with unknown cause, with a low erythrocyte and white blood cell count during four weeks, with a poor therapeutic response to antibiotics, transfusion of red blood cells, and granulocyte growth factor. She later died. Conclusion. Patients with SIOD may present progressive cerebral vascular changes and clinical neurologic deterioration early in the course of the disease. In such patients, early diagnosis and preventive revascularization surgery are of paramount importance. In diagnosing MMS, MRI angiography can be an appropriate substitute for standard invasive cerebral angiography.https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502200022V.pdfcerebrovascular disordersdiagnosismagnetic resonance imagingmoyamoya diseasemutationneurologic manifestation |
| spellingShingle | Vujić Ana Obradović Slobodan Igrutinović Zoran Protrka Zoran Janković Marijana Radovanović Marija Stajić Nataša Medović Raša Janković Sveta Moyamoya syndrome in Schimke immuno-osseous dysplasia Vojnosanitetski Pregled cerebrovascular disorders diagnosis magnetic resonance imaging moyamoya disease mutation neurologic manifestation |
| title | Moyamoya syndrome in Schimke immuno-osseous dysplasia |
| title_full | Moyamoya syndrome in Schimke immuno-osseous dysplasia |
| title_fullStr | Moyamoya syndrome in Schimke immuno-osseous dysplasia |
| title_full_unstemmed | Moyamoya syndrome in Schimke immuno-osseous dysplasia |
| title_short | Moyamoya syndrome in Schimke immuno-osseous dysplasia |
| title_sort | moyamoya syndrome in schimke immuno osseous dysplasia |
| topic | cerebrovascular disorders diagnosis magnetic resonance imaging moyamoya disease mutation neurologic manifestation |
| url | https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502200022V.pdf |
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