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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Autores principales: Misk, Rami A., Qawasme, Lama, Abunejma, Fawzy M., Abu Rahma, Bahaa Ibrahim, Abuawwad, Ehab Mohammad, Abu Iram, Raja Imad, Karaki, Abdulrahman Hussein, Alzughayyar, Tareq Z., Zalloum, Jihad Samer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9617721/
https://www.ncbi.nlm.nih.gov/pubmed/36317064
http://dx.doi.org/10.1155/2022/3555532
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author Misk, Rami A.
Qawasme, Lama
Abunejma, Fawzy M.
Abu Rahma, Bahaa Ibrahim
Abuawwad, Ehab Mohammad
Abu Iram, Raja Imad
Karaki, Abdulrahman Hussein
Alzughayyar, Tareq Z.
Zalloum, Jihad Samer
author_facet Misk, Rami A.
Qawasme, Lama
Abunejma, Fawzy M.
Abu Rahma, Bahaa Ibrahim
Abuawwad, Ehab Mohammad
Abu Iram, Raja Imad
Karaki, Abdulrahman Hussein
Alzughayyar, Tareq Z.
Zalloum, Jihad Samer
author_sort Misk, Rami A.
collection PubMed
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.
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spelling pubmed-96177212022-10-30 A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2) Misk, Rami A. Qawasme, Lama Abunejma, Fawzy M. Abu Rahma, Bahaa Ibrahim Abuawwad, Ehab Mohammad Abu Iram, Raja Imad Karaki, Abdulrahman Hussein Alzughayyar, Tareq Z. Zalloum, Jihad Samer Case Rep Pediatr Case Report 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. Hindawi 2022-10-22 /pmc/articles/PMC9617721/ /pubmed/36317064 http://dx.doi.org/10.1155/2022/3555532 Text en Copyright © 2022 Rami A. Misk et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Misk, Rami A.
Qawasme, Lama
Abunejma, Fawzy M.
Abu Rahma, Bahaa Ibrahim
Abuawwad, Ehab Mohammad
Abu Iram, Raja Imad
Karaki, Abdulrahman Hussein
Alzughayyar, Tareq Z.
Zalloum, Jihad Samer
A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2)
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)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9617721/
https://www.ncbi.nlm.nih.gov/pubmed/36317064
http://dx.doi.org/10.1155/2022/3555532
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