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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Hindawi Limited,
2022-01-01T00:00:00Z.
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| 001 | doaj_0a2e0fd20bae4b739e05dfd064ce1b0a | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Rami A. Misk |e author |
| 700 | 1 | 0 | |a Lama Qawasme |e author |
| 700 | 1 | 0 | |a Fawzy M. Abunejma |e author |
| 700 | 1 | 0 | |a Bahaa Ibrahim Abu Rahma |e author |
| 700 | 1 | 0 | |a Ehab Mohammad Abuawwad |e author |
| 700 | 1 | 0 | |a Raja Imad Abu Iram |e author |
| 700 | 1 | 0 | |a Abdulrahman Hussein Karaki |e author |
| 700 | 1 | 0 | |a Tareq Z. Alzughayyar |e author |
| 700 | 1 | 0 | |a Jihad Samer Zalloum |e author |
| 245 | 0 | 0 | |a A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2) |
| 260 | |b Hindawi Limited, |c 2022-01-01T00:00:00Z. | ||
| 500 | |a 2090-6811 | ||
| 500 | |a 10.1155/2022/3555532 | ||
| 520 | |a 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. | ||
| 546 | |a EN | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Case Reports in Pediatrics, Vol 2022 (2022) | |
| 787 | 0 | |n http://dx.doi.org/10.1155/2022/3555532 | |
| 787 | 0 | |n https://doaj.org/toc/2090-6811 | |
| 856 | 4 | 1 | |u https://doaj.org/article/0a2e0fd20bae4b739e05dfd064ce1b0a |z Connect to this object online. |