A Rare Case Report of Crigler Najjar Syndrome Type II.

Crigler-Najjar syndrome is an inborn error of metabolism caused by a point mutation in one of the five exons of UGT1A1 gene, the product of which is responsible for elimination of bilirubin via bile. A number of hyperbilirubinemia disorders similar to Crigler-Najjar syndrome are reported, but they differ in their level of unconjugated bilirubin and responses to the treatment. Here we report a 14-year-old male patient admitted to hospital with the complaint of vomiting and frequent tonsillitis. Further examination revealed that he was jaundiced since birth and had a family history of similar disorder. This report is about an extremely rare case of Crigler-Najjar syndrome type II and also management of the condition to provide the patient with a healthy lifestyle.

Whipple Procedure: A Five-Year Clinical Experience in Tertiary Care Center.

INTRODUCTION: Whipple procedure is one of the major surgeries performed in tertiary care centers. Once considered a high mortality procedure is now being practicing with mortality declining to less than 5%. This study describes our five-year experience of the Whipple procedure in terms of preoperative, operative, and postoperative parameters of patients undergoing surgery in a local tertiary care setting. MATERIAL AND METHODS: This was a non-randomized interventional study that was conducted at the Surgical Department of Services Hospital Lahore from January 2014 to December 2018. A total of 57 Whipple procedures were performed during this period. Demographic data, presenting symptoms, physical signs, past medical history, preoperative stenting details, intra-operative duration of surgery, postoperative course and complications, pathology, and causes of postoperative death were collected on a pre-designed questionnaire. Data were entered and analyzed by using SPSS 22 (IBM Corp., Armonk, USA). RESULTS: Out of 57 patients, 19 were females and 38 were males. The mean age of patients was 53±05 years. The most common presenting symptom was jaundice 39 (68.4%), followed by abdominal pain 32 (56.1%). The mean size of the tumor on CT-scan was 2.8±1.4 cm, the mean operation time was 315±38.3 min, mean blood loss during surgery was 500±130 ml, and mean hospital stay was 10±6 days. The major postoperative complication was the pancreatic fistula (12%). Twenty-one out of 39 patients presented with jaundice had undergone preoperative biliary stenting by endoscopic retrograde biliary stenting. The most common histological diagnosis was adenocarcinoma of pancreas 19 (33.3%). Out of 57 patients, nine (15.8%) patients expired in the first 30 days and the most frequent cause of mortality was septic shock. CONCLUSION: In this study, the most common presentation of patients undergoing Whipple procedure was obstructive jaundice, the most frequent operative complication was pancreatic fistula, and the most prevalent histopathology was carcinoma of the pancreas. Perioperative parameters such as mean operative time, mean blood loss during surgery, and mean length of hospital stay were comparable with other studies. However, mortality in this study was slightly higher. It can be concluded that with meticulous surgical technique, securing hemostasis strictly and standard critical care postoperatively can decrease morbidity and mortality after the Whipple procedure.

Are Consanguineous Marriages to Blame for Usher Syndrome Type 1, a Rare Disease in Pakistan?

Usher syndrome type I is a rare genetic autosomal recessive disease caused by mutations in specific genes that provide instructions for making proteins involved in normal hearing, vision, and balance. It is characterized by hearing impairment due to the inability of auditory nerves to send sensory input to the brain leading to hearing loss along with retinitis pigmentosa (RP), which is a progressive, bilateral, symmetrical retinal degeneration involving photoreceptor cells. We report a 32-year-old male patient who presented to us with complaints of night blindness and progressive vision loss for the past 20 years. He had bilateral hearing loss leading to deaf-mutism. In addition, his developmental milestones were delayed. His fundoscopic findings were consistent with RP and his electroretinography confirmed reduced retinal activity. Pure tone audiometry confirmed bilateral sensory neural hearing. His mother was a known case of Usher syndrome type 1. His family history was remarkable for multiple consanguineous marriages in both his parental and maternal families and a confirmed diagnosis of Usher syndrome in paternal uncle. The patient was tried on hearing aids and vitamin A medication but with minimal improvement in his overall condition. A multidisciplinary approach, involving an audiologist, speech, and language therapist was adapted to help the patient. Early genetic testing can help diagnose such cases in its early stages and genetic counseling regarding the detrimental effects of consanguineous marriages can play a very positive role in genetic diseases, especially those with autosomal recessive inheritance patterns.