by Suman Gupta
Mumbai,December, 2023 – An extremely rare genetic disorder in a 4-month-old infant has been successfully diagnosed and treated at SRCC – NH Children’s Hospital in Mumbai. It was a case of Progressive Familial Intrahepatic Cholestasis type 7 (PFIC 7) and very few cases of the same have been reported worldwide.
The infant, a 4-month-old girl, was born at term through normal delivery with a healthy birth weight. At 4 months of age, she was presented at SRCC –NH Children’s Hospital with jaundice persisting since 10 days. The case was complex, as the child had no previous history of developmental issues and showed no signs of liver problems at birth. Dr. Aditya Kulkarni, Consultant Pediatric Gastroenterologist & Hepatologist, led the medical team that meticulously examined the patient.
The initial evaluation revealed liver swelling, with the liver enlarged to 4 cm. Laboratory tests revealed a jaundice level of 4 mg%. All liver enzymes were within normal ranges. Intriguingly, a week later, the infant displayed altered sensorium, along with a two-day fever and a bleeding over head. She suffered from low blood sugar and excessive thinning of blood.
As the possibility of a metabolic test for liver disease was negative. Additional assessments such as a 2D echo, lipid profile, and fundus examination all yielded normal results.
The situation took a concerning turn when the infant began to experience neurological regression of developmental milestones. An MRI of the brain and spine was performed, it showed the features of meningitis. Cerebrospinal fluid (CSF) studies returned normal results, and no viral markers were detected. On further follow-ups, the infants jaundice had reached 13 with direct jaundice 11.
To further investigate, a percutaneous liver biopsy was conducted, which revealed features suggestive of intrahepatic Cholestasis.
The breakthrough in this case came through whole exome sequencing, which identified as USP53 gene mutation pathogenic for Progressive Familial Intrahepatic Cholestasis type 7 (PFIC 7). This groundbreaking discovery paves the way for future advancements in the understanding and treatment of this extremely rare condition, with very few cases reported worldwide.
In light of this extraordinary achievement, Dr. Aditya Kulkarni, Consultant Pediatric Gastroenterologist and Hepatologist at SRCC – NH Children’s Hospital, Mumbai explained, “This case stresses the importance of comprehensive diagnostic workup, coupled with genetic analysis. Our success not only allowed us to accurately diagnose this rare condition but also to provide appropriate care and genetic counseling to the affected child and her family. This knowledge will aid in her long-term management.”
The infant continues to be under close medical supervision, and further genetic counselling and hearing tests are underway to ensure her well-being.
