Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.

Rett syndrome is rarely suspected in males because of the X-linked dominant inheritance. In the literature, only six male patients have been reported with methyl-CpG-binding protein 2 (MECP2) mosaicism. Next-generation sequencing (NGS) methods have enabled better detection of somatic mosaicism compared to conventional Sanger sequencing; however, mosaics can still be difficult to detect.

Prevalence of synchronous bilateral tonsil squamous cell carcinoma: A retrospective study.

Objectives: The prevalence of synchronous bilateral tonsil cancer remains unexplored. To date, only 38 cases have been described in the literature. With an aim to substantiate the Danish recommendation of performing bilateral tonsillectomy in patients with suspected or proven tonsil cancer and in patients with cervical carcinoma metastasis from an unknown primary tumour, this study was undertaken to determine the prevalence of synchronous bilateral tonsil cancer.

[Benign paroxysmal positional vertigo in children after head trauma].

We present an eight-year-old boy with benign paroxysmal positional vertigo (BPPV) after a head trauma, successfully treated with Epley's manoeuvre. BPPV is a common cause of vestibular vertigo in adults, but it is rarely seen in children. Diagnostic work-up is challenging as children often lack the ability to describe their symptoms accurately and to cooperate in clinical examination.

Tonsillar malignancy in adult patients with peritonsillar abscess: retrospective study of 275 patients and review of the literature.

Unsuspected tonsillar malignancy in routine tonsillectomy specimens is rare. A potentially increased risk of unsuspected tonsillar malignancy in adult patients presenting with peritonsillar abscess (PTA) was noted in a recent review. Furthermore, a literature search revealed several case reports concerning tonsillar malignancy presenting as PTA.

Malignancy in routine tonsillectomy specimens: a systematic literature review.

The aim of this systematic literature review was to investigate the prevalence of unsuspected tonsillar malignancy in routine tonsillectomy specimens and to discuss whether histological examination is indicated in tonsillectomy specimens from patients without well-defined risk factors. PRISMA 2009 guidelines were considered and applied whenever possible. Articles on prevalence of unsuspected tonsillar malignancy in routine tonsillectomy specimens were selected.