In the early part of life (within the first three months), patients with Alagille syndrome exhibit conjugated hyperbilirubinemia, severe pruritus, and jaundice. Bile duct obliteration usually worsens over time, causing cirrhosis of the liver and eventual failure. Diagnosis usually occurs using the classic criteria by looking at changes associated with the five systems discussed earlier. Like FIH, the definitive treatment is a liver transplant. Almost all patients with Alagille syndrome have mutations of the genes involved in the Notch signaling pathway. Most have a mutation of the JAG1 gene, while a small minority have a mutation of the NOTCH2 gene. Sepsis
A variety of factors associated with sepsis may cause cholestasis. Typically, patients have conjugated hyperbilirubinemia and alkaline phosphatase (ALP) elevation but not to extreme levels. Sepsis-induced cholestasis may occur due to increased serum lipopolysaccharide levels. Lipopolysaccharides can inhibit and down-regulate bile salt transporters in hepatocytes, thereby leading to cholestasis. As such, in the case of sepsis, cholestasis occurs not as a result of impaired obstruction but rather the disruption of bile flow. Ischemic liver injury resulting from sepsis can also cause cholestasis. Importantly, jaundice is not indicative of cholestasis in all cases. Widespread hemolysis resulting from sepsis may release bilirubin, thereby overwhelming bilirubin reabsorption and excretion mechanism. TPN-based cholestasis
Total parenteral nutrition (TPN) is given to patients with intestinal failure or a variety of other gastrointestinal problems. Under normal settings, TPN causes a slight elevation of ALP levels. However, this does not indicate cholestasis alone.
Silent sinus syndrome is a spontaneous, asymptomatic collapse of an air sinus (usually the maxillary sinus and orbital floor) associated with negative sinus pressures. It can cause painless facial asymmetry, diplopia and enophthalmos. Diagnosis is suspected based on symptoms, and can be confirmed using a CT scan. Treatment is surgical involving making an outlet for mucous drainage from the obstructed sinus, and, in some cases, paired with reconstruction of the orbital floor. It is slightly more common in middle age. Signs and symptoms
Silent sinus syndrome can cause facial asymmetry (usually without pain), and vision problems (such as diplopia and enophthalmos). It may also cause headaches, and a feeling of fullness in the nose. Mechanism
Silent sinus syndrome most often affects the maxillary sinus, usually with a collapse of the orbital floor. It may also affect the frontal sinus or the ethmoid sinus. When the maxillary sinus is involved, the inferior oblique muscle may be damaged.The cause of silent sinus syndrome is not well understood. Bacteria in the maxillary sinus may be involved. The connection to the nose may be blocked. This can create negative pressure in the sinus, as secretions are reabsorbed. Diagnosis
Silent sinus syndrome is first suspected based on symptoms. A CT scan can be used to confirm a diagnosis. This can have characteristic features, including maxillary sinus outlet obstruction, sinus opacification, and sinus volume loss caused by inward retraction of the sinus walls. Differential diagnosis
Silent sinus syndrome is a subtype of stage three chronic maxillary atelectasis.