A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2)
A pseudo-TORCH syndrome is a rare autosomal recessive disease characterized by intracranial calcification and microcephaly, leading to spasticity and seizures, but the serology of TORCH infection is negative. We present a 4-day-old female patient with jaundice, abnormal movement, and convulsions who...
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2022/3555532 |
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| author | Rami A. Misk Lama Qawasme Fawzy M. Abunejma Bahaa Ibrahim Abu Rahma Ehab Mohammad Abuawwad Raja Imad Abu Iram Abdulrahman Hussein Karaki Tareq Z. Alzughayyar Jihad Samer Zalloum |
| author_facet | Rami A. Misk Lama Qawasme Fawzy M. Abunejma Bahaa Ibrahim Abu Rahma Ehab Mohammad Abuawwad Raja Imad Abu Iram Abdulrahman Hussein Karaki Tareq Z. Alzughayyar Jihad Samer Zalloum |
| author_sort | Rami A. Misk |
| collection | DOAJ |
| description | A pseudo-TORCH syndrome is a rare autosomal recessive disease characterized by intracranial calcification and microcephaly, leading to spasticity and seizures, but the serology of TORCH infection is negative. We present a 4-day-old female patient with jaundice, abnormal movement, and convulsions who was found to be homozygous for the missense USP18 gene mutation that causes pseudo-TORCH syndrome 2 (PTORCH2). The patient was managed with conservative measures. |
| format | Article |
| id | doaj-art-0a2e0fd20bae4b739e05dfd064ce1b0a |
| institution | Kabale University |
| issn | 2090-6811 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-0a2e0fd20bae4b739e05dfd064ce1b0a2025-02-03T01:06:27ZengWileyCase Reports in Pediatrics2090-68112022-01-01202210.1155/2022/3555532A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2)Rami A. Misk0Lama Qawasme1Fawzy M. Abunejma2Bahaa Ibrahim Abu Rahma3Ehab Mohammad Abuawwad4Raja Imad Abu Iram5Abdulrahman Hussein Karaki6Tareq Z. Alzughayyar7Jihad Samer Zalloum8College of Medicine and Health SciencesFaculty of MedicinePalestinian Red Crescent HospitalCollege of Medicine and Health SciencesCollege of Medicine and Health SciencesCollege of Medicine and Health SciencesCollege of Medicine and Health SciencesCollege of Medicine and Health SciencesFaculty of MedicineA pseudo-TORCH syndrome is a rare autosomal recessive disease characterized by intracranial calcification and microcephaly, leading to spasticity and seizures, but the serology of TORCH infection is negative. We present a 4-day-old female patient with jaundice, abnormal movement, and convulsions who was found to be homozygous for the missense USP18 gene mutation that causes pseudo-TORCH syndrome 2 (PTORCH2). The patient was managed with conservative measures.http://dx.doi.org/10.1155/2022/3555532 |
| spellingShingle | Rami A. Misk Lama Qawasme Fawzy M. Abunejma Bahaa Ibrahim Abu Rahma Ehab Mohammad Abuawwad Raja Imad Abu Iram Abdulrahman Hussein Karaki Tareq Z. Alzughayyar Jihad Samer Zalloum A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2) Case Reports in Pediatrics |
| title | A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2) |
| title_full | A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2) |
| title_fullStr | A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2) |
| title_full_unstemmed | A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2) |
| title_short | A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2) |
| title_sort | case report and literature review of pseudo torch syndrome type 2 ptorch2 |
| url | http://dx.doi.org/10.1155/2022/3555532 |
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