Successful Renal Transplantation in a Patient With Senior-Loken Syndrome and Antiphospholipid Syndrome: A Case Report.

Senior-Loken syndrome (SLS) is a rare autosomal recessive disorder affecting the eyes and the kidneys. It is an extremely rare disorder with an incidence of 1/1,000,000. Like most hereditary disorders, it is more commonly seen in families with consanguineous marriages. Here, we present a case of a 35-year-old male with a complicated past medical history, who presented to us in the outpatient department for kidney transplant consideration. The patient was diagnosed case of Senior-Loken syndrome with a family history of autoimmune diseases, renal disease, and multiple unexplained miscarriages. He also had multiple dialysis access-related complications requiring frequent access changes. He previously had an unrelated pre-emptive renal transplant which resulted in graft failure within 48 hours. In view of his history, a prothrombotic condition was suspected and the patient was started on warfarin. Workup was positive for lupus anticoagulant and hematology recommended lifelong anticoagulation. The patient had a related renal transplant that was successful. He is now on apixaban and has not had any thrombotic complications to date. This patient had antiphospholipid syndrome leading to multiple thrombotic events and a failed graft, but was never worked up for autoimmune disorders despite having a strong family history. His renal disease was presumed to be secondary to a rare condition - Senior-Loken syndrome and he was not investigated for a co-existing condition (e.g., antiphospholipid syndrome {APLS} in this case) which led to early graft failure. Hence when considering a patient for transplant, care should be taken to rule out autoimmune diseases and not ignore possible co-existing conditions in the presence of a renal pathology.

Unique Pediatric Gallstones Composed of Calcium Oxalate Phosphate.

Calcium oxalate phosphate is extremely rare composition of gall stones, with only one case reported in pediatric population till date. We report a case of pediatric cholelithiasis with a unique composition of calcium oxalate phosphate, detected at eight years of age. Its etiology remains unknown. An 8-year girl presented in Emergency Room with complaints of acute pain in right upper quadrant and nausea without any complaints of jaundice or fever. She was admitted to the hospital with the provisional diagnosis of acute cholecystitis keeping in view her symptoms and obesity, which was later found to be true after an ultrasound report; but the uniqueness and rarity of this case was determined after cholecystectomy, when the specimen containing her gall bladder along with stones was sent for analysis of the composition, which showed the rarest composition i.e., calcium oxalate phosphate. We report our experience on the unique composition of gallstones in a young girl with no known risk factors except obesity. These rare pediatric gallstones have not been associated with obesity in any literature earliar. Key Words: Gallstones, Calcium oxalate phosphate, Pediatric.

Crigler-Najjar Syndrome Type II Diagnosed in a Patient with Jaundice Since Birth.

Crigler-Najjar syndrome type II is caused by mutations in the UGT1A1 gene resulting in severely reduced hepatic activity of UDP-glucoronyltransferase - an enzyme required to convert bilirubin into a more soluble form that can then be removed from the body. Absence or severe deficiency of this enzyme can lead to bilirubin accumulation in the body resulting in yellow skin and eyes (jaundice). The earliest signs of this disease can be apparent in the neonatal period. Patients with Crigglar-Najjar syndrome type II respond to phenobarbital therapy which decreases their chances of getting bilirubinemia by 60-70% in 3 weeks. A 17 years old boy presented with the complaint of gastroenteritis. On examination, he was jaundiced and his parents reported that it has been present since birth. He was admitted in the hospital with the differential diagnosis of Gilbert syndrome, but later it was found that the unconjugated bilirubin levels were higher than those required for Gilbert's criteria. We report, herein, an extremely rare case of Crigler-Najjar syndrome type II and how the patient responded to phenobarbital therapy. Periods of fasting, stress and any kind of illness can worsen unconjugated hyperbilirubinemia leading to complications like kernicterus, so higher levels of unconjugated bilirubin should be addressed immediately and the patient along with his/her family should be educated about this disease.