Early-onset diabetes mellitus as a presenting feature of Werner's syndrome in an Indian family.

Background: Diabetes mellitus (DM) in children and adolescents is typically caused by type 1 DM, followed by type 2 DM and maturity-onset diabetes of the young (MODY). We report an unusual Asian Indian family in which three members presented with DM at ages 15, 20, and 30, but not fitting the typical clinical picture of type 1 DM, type 2 DM, or MODY. The primary objective was to elucidate the molecular genetic basis of DM in this family.

Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an p.R349W Variant.

Background: Pathogenic variants in lamin A/C () cause a variety of progeroid disorders including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, and atypical progeroid syndrome. Six families with 11 patients harboring a pathogenic heterozygous c.1045C>T; p.

Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations.

Context: Congenital generalized lipodystrophy, type 4 (CGL4) is a rare autosomal recessive disorder caused by mutations in caveolae-associated protein 1. Patients with CGL4 also have myopathy and cardiomyopathy with a predisposition for sudden death due to ventricular arrhythmias. However, the underlying pathology for these morbidities remains unknown.

Congenital dermoid cyst of the middle ear.

Dermoid cysts of the head and neck are rare lesions comprised of epidermal and mesodermal elements. We report a dermoid cyst presenting in the middle ear of the youngest patient reported to date. Structures of endodermal descent were also identified, but, given that the entire middle ear mucosa is of endodermal origin, specific classification as a teratoma would be imprecise.