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Autosomal dominant polycystic kidney disease (ADKPD) is the most frequent type of polycystic kidney disease. It is inherited through family members, with an incidence of approximately 1:400 to1:1000.Typically, individuals with ADKPD are identified between their fourth and fifth decade of life. ADKPD occurs as a results of mutation in one of the two genes, PDK1 and PDK2.Patients with PKD1 experience renal failure at an earlier onset than those with PKD2. We report on a 2 year-old-boy with hepatosplenomegaly and signs of portal hypertension. Both kidneys appeared normal until the age of 8, when multiple cysts developed, this being typical of ADKPD. Suspecting ADKPD, we performed whole exome sequencing, thereby confirming a mutation of c.6730 673del p.(Ser 2244Hisfs*17). The investigations of all family members found other individuals affected by ADKPD.

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Malformations of the portal venous system consist of congenital and acquired anomalies. Congenital portosystemic shunts represent rare vascular developmental anomalies that allow partial or complete diversion of blood flow from the portal venous system to the systemic venous system, bypassing the liver. Congenital portosystemic shunts may be associated with malformations or congenital absence of the portal vein, and it was first described by John Abernethy in 1793. Most cases are diagnosed in early childhood, but some congenital shunts may remain asymptomatic and are encountered incidentally because of the widespread use of computed tomography and magnetic resonance imaging. In this report, we discuss the case of a 40-year-old female who presented to the Emergency Department with right upper quadrant pain, nausea, and vomiting. Clinical presentation and abdominal computed tomography angiography were consistent with the diagnosis of calculous cholecystitis and congenital absence of portal vein with intrahepatic portosystemic shunts. We discuss the importance of radiology in diagnosing such incidental malformations, coupled with a review of the current literature on this topic.

Flexible fiber-optic bronchoscopy is used to determine diagnoses in pulmonary diseases. It is considered as a safe procedure, although some complications might occur, one of which is cerebral air embolism. In this case, we present the air embolism after the bronchoscopy procedure, ending in fatality. We strongly recommend that bronchoscopists should keep this complication in mind and be aware of early symptoms pertaining to the patient's state of consciousness during bronchoscopy examination. Early treatment is essential in this situation.