Prenatal brain disruption in isolated sulfite oxidase deficiency
Abstract Background Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs rapidly within days to weeks after birth and mimics severe hypoxic-ischem...
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| Format: | Article |
| Language: | English |
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BMC
2017-06-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | http://link.springer.com/article/10.1186/s13023-017-0668-3 |
| _version_ | 1818570629446631424 |
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| author | Hsiu-Fen Lee Ching-Shiang Chi Chi-Ren Tsai Hung-Chieh Chen I-Chun Lee |
| author_facet | Hsiu-Fen Lee Ching-Shiang Chi Chi-Ren Tsai Hung-Chieh Chen I-Chun Lee |
| author_sort | Hsiu-Fen Lee |
| collection | DOAJ |
| description | Abstract Background Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs rapidly within days to weeks after birth and mimics severe hypoxic-ischemic encephalopathy. The aim of this study was to describe the prenatal neuroimaging features in a neonate and a fetus diagnosed with ISOD. Results We report an 11-day-old female neonate who presented with feeding difficulties, decreased activity, neonatal seizures, and movement disorders within a few days after birth. Brain MRI at 9 days of age showed cystic lesions over the left frontal and temporal areas, diffuse and evident T2 high signal intensity of bilateral cerebral cortex, and increased T2 signal intensity of the globus pallidi. A pronounced low level of plasma cysteine and normal level of plasma uric acid were noted. Mutation analysis of SUOX revealed homozygous c.1200C > G mutations, resulting in an amino acid substitution of tyrosine to a stop codon (Y400X). The diagnosis of ISOD was made. The brain MRI of a prenatally diagnosed ISOD fetus of the second pregnancy of the mother of the index case showed poor gyration and differentiation of cortical layers without formation of cystic lesions at gestational age 21 weeks. Conclusion Cystic brain destruction might occur prenatally and neurodevelopment of gyration and differentiation of the cortical layers in the developing brain could be affected by sulfite accumulation early during the second trimester in ISOD patients. This is the first description of the prenatal neurodevelopment of brain disruption in ISOD. |
| first_indexed | 2024-12-14T13:44:28Z |
| format | Article |
| id | doaj.art-5c757f2589fd45ee976d5863167f8eb8 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-14T13:44:28Z |
| publishDate | 2017-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-5c757f2589fd45ee976d5863167f8eb82022-12-21T22:59:21ZengBMCOrphanet Journal of Rare Diseases1750-11722017-06-011211510.1186/s13023-017-0668-3Prenatal brain disruption in isolated sulfite oxidase deficiencyHsiu-Fen Lee0Ching-Shiang Chi1Chi-Ren Tsai2Hung-Chieh Chen3I-Chun Lee4Division of Nursing, Jen-Teh Junior College of Medicine, Nursing and ManagementSchool of Medicine, Chung Shan Medical UniversityDepartment of Pediatrics, Taichung Veterans General HospitalDepartment of Radiology, Taichung Veterans General HospitalDepartment of Pediatrics, Taichung Tzu Chi HospitalAbstract Background Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs rapidly within days to weeks after birth and mimics severe hypoxic-ischemic encephalopathy. The aim of this study was to describe the prenatal neuroimaging features in a neonate and a fetus diagnosed with ISOD. Results We report an 11-day-old female neonate who presented with feeding difficulties, decreased activity, neonatal seizures, and movement disorders within a few days after birth. Brain MRI at 9 days of age showed cystic lesions over the left frontal and temporal areas, diffuse and evident T2 high signal intensity of bilateral cerebral cortex, and increased T2 signal intensity of the globus pallidi. A pronounced low level of plasma cysteine and normal level of plasma uric acid were noted. Mutation analysis of SUOX revealed homozygous c.1200C > G mutations, resulting in an amino acid substitution of tyrosine to a stop codon (Y400X). The diagnosis of ISOD was made. The brain MRI of a prenatally diagnosed ISOD fetus of the second pregnancy of the mother of the index case showed poor gyration and differentiation of cortical layers without formation of cystic lesions at gestational age 21 weeks. Conclusion Cystic brain destruction might occur prenatally and neurodevelopment of gyration and differentiation of the cortical layers in the developing brain could be affected by sulfite accumulation early during the second trimester in ISOD patients. This is the first description of the prenatal neurodevelopment of brain disruption in ISOD.http://link.springer.com/article/10.1186/s13023-017-0668-3Brain disruptionBrain MRIIsolated sulfite oxidase deficiencyPrenatal period |
| spellingShingle | Hsiu-Fen Lee Ching-Shiang Chi Chi-Ren Tsai Hung-Chieh Chen I-Chun Lee Prenatal brain disruption in isolated sulfite oxidase deficiency Orphanet Journal of Rare Diseases Brain disruption Brain MRI Isolated sulfite oxidase deficiency Prenatal period |
| title | Prenatal brain disruption in isolated sulfite oxidase deficiency |
| title_full | Prenatal brain disruption in isolated sulfite oxidase deficiency |
| title_fullStr | Prenatal brain disruption in isolated sulfite oxidase deficiency |
| title_full_unstemmed | Prenatal brain disruption in isolated sulfite oxidase deficiency |
| title_short | Prenatal brain disruption in isolated sulfite oxidase deficiency |
| title_sort | prenatal brain disruption in isolated sulfite oxidase deficiency |
| topic | Brain disruption Brain MRI Isolated sulfite oxidase deficiency Prenatal period |
| url | http://link.springer.com/article/10.1186/s13023-017-0668-3 |
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