Hepatic Sarcoidosis: Lesson Based on a Case Report.

Sarcoidosis is a multisystemic disease of unknown etiology that can involve lungs, abdominal organs, and lymph nodes. The incidence of sarcoidosis is highest between the ages of 20 and 40 years, and it affects both sexes equally. The most frequent localization is in the lungs, and about half of the affected patients are generally asymptomatic but can involve in small percentages of various other parts such as the biliary tract, pancreas, stomach, and urinary tract. Hepatic and splenic localization is infrequent, and lesions are often mistaken for metastases due to their morphologic similarity. The histological lesion of sarcoidosis is a noncaseous granuloma always associated with high levels of angiotensin-converting enzyme, hypercalcemia, hypercalciuria, and, in a significant percentage of cases (35%-40%), liver enzyme alteration. The pathological evolution of granulomas is fibrosis, and the most severe cases of hepatic sarcoidosis can develop into cirrhosis or portal hypertension. Imaging is essential for lesion localization and is represented by ultrasound, computed tomography (CT), magnetic resonance imaging, and positron emission tomography/CT. The differential diagnosis is very difficult and is almost always histological. We describe a case of hepatic sarcoidosis in an asymptomatic patient with elevated liver enzymes.

Renal extramedullary hematopoiesis as an epiphenomenon of bone marrow dysfunction in a patient with primary myelofibrosis: A rare case report.

Extramedullary hematopoiesis represents a clinical compensatory condition characterized by the growth of hematopoietic tissue outside the bone marrow. It can mainly occur in patient with myeloproliferative disorders where alteration or neoplastic invasion of the bone marrow causes ineffective production of blood cells with the recruitment of progenitrix blood cells in non-hematopoietic organs, including kidneys. Renal extramedullary hematopoiesis is a rare condition manifesting as parenchymal or perirenal soft tissue masses with different patterns mimicking neoplasms, infectious or vascular diseases. We describe a unique case of a patient affected by primary myelofibrosis underwent ultrasound and magnetic resonance examinations showing bilateral perirenal alterations to be related to hemopoietic tissue. We also focused on the pathophysiology of this condition with imaging correlation. The case we present emphasises the importance of recognising the main radiological features of renal extramedullary hematopoiesis. MR examination should become part of the diagnostic pathway of the patient with primary myelofibrosis.

Spigelian-cryptorchidism syndrome: Lesson based on a case report.

The Spigelian hernia is a abdominal wall hernia that originates from a discontinuity of the Spigelian fascia located lateral to the rectus abdominis muscle. It can be acquired in adults or congenital in newborns. In very rare cases in male it can be associated with cryptorchidism, in which case it is known as "Spigellian-Cryptorchidism Syndrome". It can be clinically highlighted with abdominal swelling wall along the semilunar line and intestinal obstruction. The diagnosis, as in all pediatric emergencies, must be timely and the method of choice is ultrasound which allows a rapid localization of the hernia breach and herniated structures. The treatment of choice is surgical with herniopexy and repositioning of the testicle into the scrotal sac, or orchipessy in cases of testicular necrosis. We describe ultrasound characteristics of Spigellian-cryptorchidism syndrome presenting with acute intestinal obstruction in a newborn.

Alagille syndrome with unusual common bile duct hypoplasia and gallbladder dysmorphism: Lesson based on a case report.

Alagille syndrome is an autosomal dominant and multisystemic disease that generally manifests itself with intrahepatic bile ducts paucity, chronic cholestasis, xanthomas and with other less frequent clinical manifestations such as congenital heart disease, skeletal abnomalies, ophthalmic, vascular, renal and growth failure. Symptoms can be subclinical or very severe. Is caused by various genetic mutations and the majority of patients have a detectable mutation in JAG1 (90%), the remainder have mutations in NOTCH2. The diagnosis is molecular and the incidence is approximately 1 in 30,000 - 50.000. Patient management can be very complex and treatment depends on the district affected and on the symptoms. In more serious cases, with terminal liver disease, liver transplantation is used. We describe a case with main bile duct hypoplasia, intrahepatic bile ducts paucity, cholestasis and gallbladder dimorphism associated with renal malrotation and butterfly vertebrae.