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Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism. SLC26A4 is the major gene involved, even though ~50% of the patients carry only one pathogenic mutation. This study aims to define the molecular diagnosis for a cohort of 24 suspected-PDS patients characterized by a deep radiological and audiological evaluation. Whole-Exome Sequencing (WES), the analysis of twelve variants upstream of SLC26A4, constituting the “CEVA haplotype” and Multiplex Ligation Probe Amplification (MLPA) searching for deletions/duplications in SLC26A4 gene have been carried out. In five patients (20.8%) homozygous/compound heterozygous SLC26A4 mutations, or pathogenic mutation in trans with the CEVA haplotype have been identified, while five subjects (20.8%) resulted heterozygous for a single variant. In silico protein modeling supported the pathogenicity of the detected variants, suggesting an effect on the protein stabilization/function. Interestingly, we identified a genotype-phenotype correlation among those patients carrying SLC26A4 mutations, whose audiograms presented a characteristic slope at the medium and high frequencies, providing new insights into PDS. Finally, an interesting homozygous variant in MYO5C has been identified in one patient negative to SLC26A4 gene, suggesting the identification of a new HL candidate gene.

BackgroundOgilvie’s syndrome is described in the adult population, but rarely seen in children.Case presentationWe present a case of a girl who suffered acute colonic pseudo-obstruction after laparoscopic appendectomy.ConclusionsOgilvie’s syndrome, although rare in the pediatric population, should be considered as possible diagnosis after a surgical procedure in presence of persisting subocclusive symptoms and radiological signs of massive colonic dilatation without mechanical obstruction.

A 12-year-old postmenarchal girl was admitted for evaluation of a 2-month history of increasing abdominal swelling and constipation. On physical examination, a smooth and firm mass filling all the abdomen was palpable. Ultrasound examination showed a giant cystic mass arising from the pelvis; magnetic resonance imaging (Figure) confirmed the finding. Blood tests and tumor markers (b-human choriogonadotropin, CA 19-9, CA-125, and carcinoembryonic antigen) were all within normal range. Suspecting either an ovarian or a paraovarian or a mesenteric cyst, surgical exploration was performed through an umbilical incision. Approximately 5 L of clear fluid were drained without any spillage from the cyst and once its origin from the right ovary was confirmed, an ovarian cystectomy was performed, preserving the ovary. Histopathology revealed a serous cystadenoma. Childhood ovarian masses are a rare and, generally, not malignant. Epithelial tumors occur most often after menarche. The most common clinical signs are rapidly expanding abdominal distension and a palpable mass; these findings may be accompanied by nonspecific abdominal pain, vomiting, constipation, ovary torsion, and rupture. A conservative procedure, namely, ovarian cystectomy, should be considered the treatment of choice to preserve fertility. 1-3 Because the clinical presentation of ovarian masses is usually nonspecific, pediatricians should consider this diagnosis both in premenarchal and postmenarchal girls. ■