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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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Main Authors: Rami A. Misk (Author), Lama Qawasme (Author), Fawzy M. Abunejma (Author), Bahaa Ibrahim Abu Rahma (Author), Ehab Mohammad Abuawwad (Author), Raja Imad Abu Iram (Author), Abdulrahman Hussein Karaki (Author), Tareq Z. Alzughayyar (Author), Jihad Samer Zalloum (Author)
Format: Book
Published: Hindawi Limited, 2022-01-01T00:00:00Z.
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Summary: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.
Item Description:2090-6811
10.1155/2022/3555532

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