Novel ATP8B1 gene mutation in a family with progressive familial intrahepatic cholestasis.

Progressive familial intrahepatic cholestasis (PFIC) denotes a rare, heterogeneous group of hepatobiliary disorders with autosomal recessive inheritance. PFIC 1 results from a genetic mutation involving the ATP8B1 gene on chromosome 18. It classically manifests with infantile-onset cholestasis with pruritus and malabsorption, progressing to hepatic failure in the first decade of life.

Correlation of Liver Fibrosis using Noninvasive Transient Elastography with Histological Staging in Infants with Cholestasis - A Prospective Analytical Study.

Aims: This study primarily aimed to correlate liver fibrosis (LF) assessed by transient elastography (TE) using liver stiffness measurement (LSM score) with liver biopsy fibrosis scoring (METAVIR score) in biliary atresia (BA). Secondary objectives were to assess the diagnostic accuracy of TE in distinguishing BA from other causes of neonatal cholestasis (NC) and the correlation of preoperative LSM score with surgical outcomes 3 months post Kasai portoenterostomy.

Methodology: Infants under 6 months with conjugated hyperbilirubinemia (July 2022-February 2024) were cases and age- and gender-matched healthy infants served as controls.

Spontaneous Resolution of Congenital Intrahepatic Portosystemic Shunt.

Congenital portosystemic shunts (CPSS) are a rare type of congenital abnormality. It results from abnormal embryonic development by the fourth week of fetal life. Congenital portosystemic shunts are believed to signify persistent communication between the portal and vitelline venous systems.

Osteopetrosis with Arnold Chiari malformation type I.

Osteopetrosis is a rare genetic disorder resulting in increased bone density and decreased bone remodelling. Bone expansion results in the crowding of neural foramina causing cranial nerve compression. Here, we describe a female infant in her mid infancy presented with no eye contact since birth, and abdominal distension for 2 months.

Evaluation of Safety and Efficacy of Add-on Alpha-Lipoic Acid on Migraine Prophylaxis in an Adolescent Population: A Randomized Controlled Trial.

Nutraceuticals like alpha-lipoic acid (ALA) may have potential benefits as prophylactic agents for adolescent migraine, with fewer adverse events than existing medications. The present study was conducted to evaluate the safety and efficacy of add-on ALA for prophylaxis in adolescent migraine. A randomized, open-label, add-on clinical trial was conducted with 60 adolescent migraineurs, who were randomized to receive flunarizine or flunarizine with an add-on ALA.

Response to Zoledronic Acid Infusion in Children With Fibrous Dysplasia.

This retrospective study evaluated the outcome and safety of long-term treatment with zoledronic acid, in both polyostotic and mono-ostotic fibrous dysplasia (FD) of children. The case records of children and adolescents with symptomatic FD who received zoledronic acid (0.1 mg/kg IV infusion over 1 h) and have completed at least 2 years follow-up were analyzed.

Chanarin Dorfman syndrome: a case report with novel nonsense mutation.

Chanarin Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. It is inherited as an autosomal recessive manner. It is characterized with congenital ichthyosiform erythroderma and involvement of liver, muscle, and central nervous system.