0000000000303344
AUTHOR
Nicola Cassata
Cefalea persistente in una bambina con rettocolite ulcerosa: pensa alla trombosi venosa
Patients with inflammatory bowel disease have an increased risk of thromboembolic complications, especially during the active phase of the disease. Cerebral thromboembolism is a rare extra-intestinal complication, associated with high risk of morbidity and mortality. Due to the nonspecific clinical presentation and low incidence, a cerebral thromboembolic event may be undiagnosed. For this reason neurological symptoms, such as headache, should not be underestimated in inflammatory bowel disease patients. The paper describes a case of a three-year-old girl with ulcerative colitis complicated by cerebral thrombosis.
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome
Abstract Introduction Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12. The clinical spectrum is highly variable, ranging from late-onset milder forms to severe perinatal manifestations. The management of newborns with severe pulmonary insufficiency is challenging, and causes of early death are sepsis or respiratory failure. In cases of massive renal enlargement, early bilateral nephrectomy and peritoneal dialysis may reduce infant mortality. However, there is no conclusive data on the role of surgery, and decision-makin…
Additional file 1 of Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome
Additional file 1.