Caroli disease associated with infantile polycystic kidneys disease-like clinicopathology: a case report

Investigation Giant Placental Chorioangioma Associated with Neonatal Sepsis-like Disease: A Case Report

Giant chorioangioma is a placental tumor associated with gestational complications such as preeclampsia, polyhydramnios and hemorrhage. In addition, this tumor might lead to the incidence of non-immune fetal hydrops, heart failure, anemia, thrombocytopenia, weight loss and death among neonates. In this case report, the clinical image of a term newborn (weighing 2800 g) with one-minute Apgar sco...

Prenatal diagnosis of infantile polycystic kidneys: a case report.

A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).

Autosomal dominant polycystic kidney disease (ADPKD) is the most common single gene disorder resulting in renal failure. It is generally an adult onset disease, but rarely, cases of severe childhood polycystic disease arise in ADPKD families. The clear clinical anticipation in these pedigrees has led to the suggestion that the mutation may be an unstable trinucleotide repeat. We have now identi...

Infantile refsum disease: case report.

Infantile Refsum disease is a rare inborn error of phytanic acid metabolism. It is inherited in an autosomal recessive manner and frequently causes signs and symptoms in the neonate period. The only source of phytanic acid in humans is exogenous, from diet. We report the MR imaging findings in two cases of infantile Refsum disease and note the MR imaging changes that occurred over time because ...

Castleman’s Disease, a Case report

Introduction: Castleman's disease is a rare lymphoproliferative disorder which may be confused with other causes of lymphadenopathy. Case Report: Here we report a case of unicentric Castleman's disease presenting with cervical lymphadenopathy. The patient was treated with complete surgical excision of lesion and was disease free at the time of reporting this article. This case has been reported...