A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants
Leukoencephalopathy with calcifications and cysts is a rare autosomal recessive genetic disorder neuroradiologically characterized by intracranial calcification, cerebral white matter disease, and multiple cysts. Although SNORD118 genes have recently been identified as a cause of this disorder, its...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-03-01
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| Series: | Radiology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043322010172 |
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| author | Kazuo Kodama, MD Hiromi Aoyama, MD, PhD Yoshimi Murakami, MD Jun-ichi Takanashi, MD, PhD Eriko Koshimizu, PhD Satoko Miyatake, MD, PhD Kazuhiro Iwama, MD, PhD Takeshi Mizuguchi, MD, PhD Naomichi Matsumoto, MD, PhD Taku Omata, MD, PhD |
| author_facet | Kazuo Kodama, MD Hiromi Aoyama, MD, PhD Yoshimi Murakami, MD Jun-ichi Takanashi, MD, PhD Eriko Koshimizu, PhD Satoko Miyatake, MD, PhD Kazuhiro Iwama, MD, PhD Takeshi Mizuguchi, MD, PhD Naomichi Matsumoto, MD, PhD Taku Omata, MD, PhD |
| author_sort | Kazuo Kodama, MD |
| collection | DOAJ |
| description | Leukoencephalopathy with calcifications and cysts is a rare autosomal recessive genetic disorder neuroradiologically characterized by intracranial calcification, cerebral white matter disease, and multiple cysts. Although SNORD118 genes have recently been identified as a cause of this disorder, its clinical course varies for each patient. We report an early infantile case of this disease that progressed rapidly with confirmed SNORD118 variants. A 3-month-old female infant presented with epileptic seizures. Computed tomography revealed intracranial calcifications in the basal ganglia and thalamus. Magnetic resonance imaging demonstrated hyperintense lesions in the diffuse white matter on T2-weighted images starting at 7 months of age. Calcifications developed in the cerebral white matter, pons, and cerebellum. Small cysts appeared in the cerebral white matter at 1 year and 6 months. These cysts then began to increase bilaterally and expand rapidly. Although her epilepsy was controlled, she exhibited severe developmental delays and was unable to speak or walk at the age of 4 years. Whole-exome sequencing did not reveal any causal variants in the coding sequences. Further, Sanger sequencing revealed biallelic SNORD118 variants. Clinical features of this disease have not been established. To date, no cases with rapid changes in imaging results have been reported in detail prior to the appearance of cysts. Thus, we report a novel case that had an early infantile-onset and progressed rapidly with sequential appearance of calcification, white matter lesions and cysts. As SNORD118 variants might be missed by regular whole-exome sequencing, careful neuroimaging follow-up may be necessary to diagnose this disease. |
| first_indexed | 2024-04-10T19:47:39Z |
| format | Article |
| id | doaj.art-b22a1a9a07024e1ead5eaf1d2c102d44 |
| institution | Directory Open Access Journal |
| issn | 1930-0433 |
| language | English |
| last_indexed | 2024-04-10T19:47:39Z |
| publishDate | 2023-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj.art-b22a1a9a07024e1ead5eaf1d2c102d442023-01-29T04:19:48ZengElsevierRadiology Case Reports1930-04332023-03-0118312171220A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variantsKazuo Kodama, MD0Hiromi Aoyama, MD, PhD1Yoshimi Murakami, MD2Jun-ichi Takanashi, MD, PhD3Eriko Koshimizu, PhD4Satoko Miyatake, MD, PhD5Kazuhiro Iwama, MD, PhD6Takeshi Mizuguchi, MD, PhD7Naomichi Matsumoto, MD, PhD8Taku Omata, MD, PhD9Division of Child Neurology, Chiba Children's Hospital, 579-1, Heta-cho, Midori-ku, Chiba 266-0007, Japan; Corresponding author.Division of Child Neurology, Chiba Children's Hospital, 579-1, Heta-cho, Midori-ku, Chiba 266-0007, JapanDivision of Child Neurology, Chiba Children's Hospital, 579-1, Heta-cho, Midori-ku, Chiba 266-0007, JapanDepartment of Pediatrics, Tokyo Women's Medical University, Yachiyo Medical Center, Yachiyo, JapanDepartment of Human Genetics, Yokohama City University, Yokohama, JapanDepartment of Human Genetics, Yokohama City University, Yokohama, JapanDepartment of Human Genetics, Yokohama City University, Yokohama, JapanDepartment of Human Genetics, Yokohama City University, Yokohama, JapanDepartment of Human Genetics, Yokohama City University, Yokohama, JapanDivision of Child Neurology, Chiba Children's Hospital, 579-1, Heta-cho, Midori-ku, Chiba 266-0007, JapanLeukoencephalopathy with calcifications and cysts is a rare autosomal recessive genetic disorder neuroradiologically characterized by intracranial calcification, cerebral white matter disease, and multiple cysts. Although SNORD118 genes have recently been identified as a cause of this disorder, its clinical course varies for each patient. We report an early infantile case of this disease that progressed rapidly with confirmed SNORD118 variants. A 3-month-old female infant presented with epileptic seizures. Computed tomography revealed intracranial calcifications in the basal ganglia and thalamus. Magnetic resonance imaging demonstrated hyperintense lesions in the diffuse white matter on T2-weighted images starting at 7 months of age. Calcifications developed in the cerebral white matter, pons, and cerebellum. Small cysts appeared in the cerebral white matter at 1 year and 6 months. These cysts then began to increase bilaterally and expand rapidly. Although her epilepsy was controlled, she exhibited severe developmental delays and was unable to speak or walk at the age of 4 years. Whole-exome sequencing did not reveal any causal variants in the coding sequences. Further, Sanger sequencing revealed biallelic SNORD118 variants. Clinical features of this disease have not been established. To date, no cases with rapid changes in imaging results have been reported in detail prior to the appearance of cysts. Thus, we report a novel case that had an early infantile-onset and progressed rapidly with sequential appearance of calcification, white matter lesions and cysts. As SNORD118 variants might be missed by regular whole-exome sequencing, careful neuroimaging follow-up may be necessary to diagnose this disease.http://www.sciencedirect.com/science/article/pii/S1930043322010172Leukoencephalopathy with calcifications and cysts (LCC)SNORD118Cerebroretinal microangiopathy with calcification and cysts (CRMCC) |
| spellingShingle | Kazuo Kodama, MD Hiromi Aoyama, MD, PhD Yoshimi Murakami, MD Jun-ichi Takanashi, MD, PhD Eriko Koshimizu, PhD Satoko Miyatake, MD, PhD Kazuhiro Iwama, MD, PhD Takeshi Mizuguchi, MD, PhD Naomichi Matsumoto, MD, PhD Taku Omata, MD, PhD A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants Radiology Case Reports Leukoencephalopathy with calcifications and cysts (LCC) SNORD118 Cerebroretinal microangiopathy with calcification and cysts (CRMCC) |
| title | A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants |
| title_full | A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants |
| title_fullStr | A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants |
| title_full_unstemmed | A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants |
| title_short | A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants |
| title_sort | case of early infantile onset rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic snord118 variants |
| topic | Leukoencephalopathy with calcifications and cysts (LCC) SNORD118 Cerebroretinal microangiopathy with calcification and cysts (CRMCC) |
| url | http://www.sciencedirect.com/science/article/pii/S1930043322010172 |
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