A Case Report and Literature Review of Pseudo‐TORCH Syndrome Type 2 (PTORCH2)

Misk, Rami A.; Qawasme, Lama; Abunejma, Fawzy M.; Rahma, Bahaa Ibrahim Abu; Abuawwad, Ehab Mohammad; Iram, Raja Imad Abu; Karaki, Abdulrahman Hussein; Alzughayyar, Tareq Z.; Zalloum, Jihad Samer

doi:10.1155/2022/3555532

Cited by 3 publications

(2 citation statements)

References 20 publications

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“…Aicardi-Goutières Syndrome (AGS) stands as a rare genetically inherited neuroinflammatory disorder impacting the brain, immune system, and skin, presenting progressively with symptoms such as dystonia/spasticity, hepatosplenomegaly, elevated liver enzymes, thrombocytopenia, chilblain-like skin lesions, and neurological abnormalities, including microcephaly, CSF lymphocytosis, and developmental delays [79][80][81]. These symptoms, reminiscent of TORCH congenital infections despite the absence of active viral infection, have led to the term "Pseudo-TORCH syndrome" for AGS.…”

Section: Aicardi-goutières Syndromementioning

confidence: 99%

“…These findings commonly include the loss of white matter, particularly in the periventricular and deep white matter regions, as well as calcifications in the basal ganglia and dentate nuclei [79,81,85]. Additionally, the presence of ventriculomegaly and the thinning of the corpus callosum are frequently observed, contributing to the distinctive radiological profile that aids in distinguishing AGS from other neurological conditions [80].…”

Section: Aicardi-goutières Syndromementioning

confidence: 99%

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Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Thakkar,

Patel,

Kioutchoukova

et al. 2024

Medical Sciences

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Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis. These diseases are characterized as cerebral lesions with characteristic demyelinating patterns which can be used as differentiating tools. In this review, we talk about these MRI study findings for each leukodystrophy, associated genetics, blood work that can help in differentiation, emerging diagnostics, and a follow-up imaging strategy. The leukodystrophies discussed in this paper include X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe’s disease, Pelizaeus–Merzbacher disease, Alexander’s disease, Canavan disease, and Aicardi–Goutières Syndrome.

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Section: Aicardi-goutières Syndromementioning

confidence: 99%

Section: Aicardi-goutières Syndromementioning

confidence: 99%

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Thakkar,

Patel,

Kioutchoukova

et al. 2024

Medical Sciences

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COL4A1‐related disorder as a mimic of congenital TORCHES infection—Expanding the clinical, neuroimaging and genotype spectrum

Kukulka,

Zarei,

Glass

et al. 2024

American J of Med Genetics Pt A

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Pseudo‐TORCH Syndrome (PTS) encompasses a heterogeneous group of genetic disorders that may clinically and radiologically resemble congenital TORCH infections. These mimickers present with overlapping features manifested as intracranial and systemic abnormalities. Collagen type IV alpha 1 chain (COL4A1)‐related diseases, characterized by autosomal dominant inheritance, exhibit a diverse phenotypic spectrum involving cerebrovascular, renal, ophthalmological, cardiac, and muscular abnormalities. Cerebrovascular manifestations range from small‐vessel brain disease to large vessel abnormalities, resulting in intracerebral hemorrhage, periventricular leukoencephalopathy, and ventriculomegaly. Additional features include cortical malformations, eye defects, arrhythmias, renal disease, muscular abnormalities, and hematological manifestations. Age of onset varies widely, and phenotypic variability exists even among individuals with the same variant. In this study, we present two cases of COL4A1‐related disorder mimicking congenital TORCH infections, highlighting the importance of recognizing genetic mimics in clinical practice.

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Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Thakkar,

Patel,

Kioutchoukova

et al. 2023

Preprint

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Leukodystrophies, also known as demyelinating diseases, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific and thus, imaging techniques like MRI can be used for a more definitive diagnosis. These diseases are characterized as cerebral lesions with characteristic demyelinating patterns, which can be used as differentiating tools. In this review, we talk about these MRI imaging findings for each leukodystrophy, associated genetics, blood work that can help differentiate, emerging diagnostics, and follow up imaging strategy. The leukodystrophies discussed in this paper include X-linked adrenoleukodystrophy, Metachromatic leukodystrophy, Krabbe’s disease, Pelizaeus-Merzbacher disease, Alexander’s disease, Canavan disease, and Aicardi-Goutières Syndrome.

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A Case Report and Literature Review of Pseudo‐TORCH Syndrome Type 2 (PTORCH2)

Cited by 3 publications

References 20 publications

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

COL4A1‐related disorder as a mimic of congenital TORCHES infection—Expanding the clinical, neuroimaging and genotype spectrum

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

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