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.

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.