Parallel duplication of the internal spermatic vein is a common finding on antegrade venography. The various levels of duplication need to be identified before treatment of varicocele to maximize the success of the procedure.

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Background There are few reports describing the proximal deletions of the short arm of chromosome 20, making it difficult to predict the likely consequences of these deletions. Most previously reported cases have described the association of 20p11.2 deletions with Alagille syndrome, while there are others that include phenotypes such as panhypopituitarism, craniofacial dysmorphism, polysplenia, autism, and Hirschsprung disease. Methods Molecular karyotyping, cytogenetics, and DNA sequencing were undertaken in a child to study the genetic basis of a complex phenotype consisting of craniofacial dysmorphism, ocular abnormalities, ectopic inguinal testes, polysplenia, growth hormone deficiency, central hypothyroidism, and gastrointestinal system anomalies. Results We report the smallest described de novo proximal 20p11.2 deletion, which deletes only the FOXA2 leading to the above complex phenotype. Conclusions Haploinsufficiency of the FOXA2 only gene is associated with a multisystem disorder.

We describe the case of a 13-month-old boy with significant rectal bleeding in which the (99m)Tc pertechnetate scan showed an initial focus of uptake in the left iliac fossa, which faded rapidly at 15 min. At surgery an ulcerated Meckel's diverticulum was found. We therefore highlight the need to consider a Meckel's diverticulum in cases where this atypical scintigraphic appearance is seen.