Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.

Ciliopathies represent a major category of rare multisystem disease. Arriving at a specific diagnosis for a given patient is challenged by the significant genetic and clinical heterogeneity of these conditions. We report the outcome of the diagnostic odyssey of a child with obesity, renal, and retinal disease.

An unusual cause of acute appendicitis.

A case is presented of a patient with a metastasis of cardia carcinoma to the appendix, causing acute appendicitis. Survey of the literature shows that metastasis to the appendix is very rare. When present, it is likely to be the cause of appendicitis by obstruction of the lumen.