Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous <i>POMT2</i> Missense Mutations

Zago, Silvia; Silvestri, Evelina; Arcangeli, T.; Calisesi, M.; Romeo, C.; Parmeggiani, Giulia; Parrini, Elena; Cetica, Valentina; Guerrini, Renzo; Palicelli, Andrea; Bonasoni, Maria Paola

doi:10.1080/15513815.2022.2116620

Fetal and Pediatric Pathology

2022

DOI: 10.1080/15513815.2022.2116620

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Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations

Silvia Zago

Evelina Silvestri

T. Arcangeli

et al.

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2024

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Cited by 2 publications

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“…letal infantil lizensefali olarak bilinen Walker-Warburg sendromu (WWS), serebral, serebellar, göz ve kas anomalileri ile karakterize, nadir görülen otozomal resesif bir hastalıktır. 1 2016 yılında İtalya'nın kuzeydoğusunda yapılan bir araştırma, 100.000 canlı doğumda 1,2 insidans oranı bildirmiştir. 2 WWS tanısı için Tip II lizensefali, serebellar anomali, retinal anomali ve konjenital musküler distrofiden oluşan 4 ana kriteri gereklidir.…”

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More Monitoring for Safe Anesthesia in the Walker-Warburg Syndrome Patient with Frequent Seizures

SARI,

TÜRKÖZ

2024

Turkiye Klinikleri J Anest Reanim

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More Monitoring for Safe Anesthesia in the Walker-Warburg Syndrome Patient with Frequent Seizures

SARI,

TÜRKÖZ

2024

Turkiye Klinikleri J Anest Reanim

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Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli–Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review

Karseladze,

Asaturova,

Kiseleva

et al. 2024

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Androgen insensitivity syndrome (AIS) is a rare Mendelian disorder caused by mutations of the androgen receptor (AR) gene on the long arm of the X chromosome. As a result of the mutation, the receptor becomes resistant to androgens, and hence, karyotypically male patients (46,XY) carry a female phenotype. Their cryptorchid gonads are prone to the development of several types of tumors (germ cell, sex cord stromal, and others). Here, we report a 15-year-old female-looking patient with primary amenorrhea who underwent laparoscopic gonadectomy. Histologically, the patient’s gonads showed Sertoli cell hamartomas (SCHs) and adenomas (SCAs) with areas of Sertoli–Leydig cell tumors (SLCTs) and a left-sided paratesticular leiomyoma. Rudimentary Fallopian tubes were also present. The patient’s karyotype was 46,XY without any evidence of aberrations. Molecular genetic analysis of the left gonad revealed two likely germline mutations—a pathogenic frameshift deletion in the AR gene (c.77delT) and a likely pathogenic missense variant in the RAC1 gene (p.A94V). Strikingly, no somatic mutations, fusions, or copy number variations were found. We also performed the first systematic literature review (PRISMA guidelines; screened databases: PubMed, Scopus, Web of Science; ended on 7 December 2023) of the reported cases of patients with AIS showing benign or malignant Sertoli cell lesions/tumors in their gonads (n = 225; age: 4–84, mean 32 years), including Sertoli cell hyperplasia (1%), Sertoli cell nodules (6%), SCHs (31%), SCAs (36%), Sertoli cell tumors (SCTs) (16%), and SLCTs (4%). The few cases (n = 14, 6%; six SCAs, four SCTs, two SLCTs, and two SCHs) with available follow-up (2–49, mean 17 months) showed no evidence of disease (13/14, 93%) or died of other causes (1/14, 7%) despite the histological diagnosis. Smooth muscle lesions/proliferations were identified in 19 (8%) cases (including clearly reported rudimentary uterine remnants, 3 cases; leiomyomas, 4 cases). Rudimentary Fallopian tube(s) were described in nine (4%) cases. Conclusion: AIS may be associated with sex cord/stromal tumors and, rarely, mesenchymal tumors such as leiomyomas. True malignant sex cord tumors can arise in these patients. Larger series with longer follow-ups are needed to estimate the exact prognostic relevance of tumor histology in AIS.

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Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations

Cited by 2 publications

References 22 publications

More Monitoring for Safe Anesthesia in the Walker-Warburg Syndrome Patient with Frequent Seizures

More Monitoring for Safe Anesthesia in the Walker-Warburg Syndrome Patient with Frequent Seizures

Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli–Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review

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