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A toddler girl was diagnosed with intra-abdominal simple cyst in the splenic flexure at the gestational period. Due to a severe fever that persisted for 6 days, she was admitted to the emergency room. The diagnosis of intraperitoneal cyst infection was made after contrast-enhanced CT revealed an enlarged cyst and a heterogeneous contrast effect on the cyst wall. A double-wall sign was observed on the cyst wall during continuous ultrasound follow-up, which led to the preoperative diagnosis of the cyst as a duplication cyst. The double-wall sign and cyst peristalsis were identified via successive ultrasound examinations to support the cyst diagnosis. Identifying a duplication cyst based solely on symptoms alone is difficult because the condition may present in different ways.
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http://dx.doi.org/10.1136/bcr-2022-252524 | DOI Listing |
Orv Hetil
September 2025
1 Szegedi Tudományegyetem, Szent-Györgyi Albert Orvostudományi Kar, Klinikai Központ, Fül-Orr-Gégészeti és Fej-Nyaksebészeti Klinika Szeged, Tisza Lajos körút 111., 6725 Magyarország.
Mol Genet Genomic Med
September 2025
Research Centre for Medical Genetics, Moscow, Russia.
Background: Developmental and epileptic encephalopathies (DEEs) comprise a diverse range of disorders that can arise from both genetic and non-genetic causes. Genetic DEEs are linked to pathogenic variants in various genes with different molecular functions. The wide clinical and genetic variability found in DEEs poses a considerable challenge for accurate diagnosis even with the use of comprehensive diagnostic approaches such as whole genome sequencing (WGS).
View Article and Find Full Text PDFMedicine (Baltimore)
September 2025
Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong Province, China.
Rationale: Weaver syndrome is a rare congenital overgrowth disorder characterized by a wide spectrum of clinical manifestations that often overlap with other overgrowth syndromes. It is primarily caused by pathogenic variants in the Enhancer of Zeste Homolog 2 (EZH2) gene on chromosome 7q36.1.
View Article and Find Full Text PDFUrol Case Rep
September 2025
Pediatric Surgery Department "A", Children Hospital Bechir Hamza, Tunis, Tunisia.
We present a rare case of a full-term male neonate with a complex perineal anomaly featuring a mucosa-lined cleft extending from the penile base to the right gluteal fold, accompanied by penoscrotal transposition, hemiscrotal hypoplasia, and hypospadias. The lesion's anatomical and histological characteristics suggest antenatal rupture of a rectal duplication cyst. This report highlights the diagnostic challenges of exteriorized rectal duplications and underscores the importance of multistage reconstruction for optimal functional and cosmetic outcomes.
View Article and Find Full Text PDFJ Pathol Transl Med
September 2025
Department of Pathology, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Hwasun, Korea.
Central nervous system tumors with BCL6 corepressor (BCOR) internal tandem duplications (ITDs) constitute a rare, recently characterized pediatric neoplasm with distinct molecular and histopathological features. To date, 69 cases have been documented in the literature, including our institutional case. These neoplasms predominantly occur in young children, with the cerebellum representing the most frequent anatomical location.
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