Cerebrotendinous Xanthomatosis, a Treatable Disorder Often Missed: Case Series of Three Patients Confirmed by Genetic Testing.

ABSTRACT: Cerebrotendinous xanthomatosis (CTX) is a treatable autosomal recessive disorder with varied clinical manifestations and age of onset and is often diagnosed late. We report three cases of CTX who presented at our center with clinical features of frequent diarrhea, early cataracts, xanthomas, cognitive decline, ataxia, neuropathy, and other manifestations of CTX. Magnetic resonance imaging (MRI) brain in all three patients revealed abnormalities consistent with CTX. Diagnosis was confirmed by next-generation sequencing. Chenodeoxycholic acid (CDCA) is recommended as the drug of choice, as it can halt the disease progression and reverse some of the symptoms. In addition to late diagnosis, nonavailability of CDCA in our part of world adds to the problem of management of such patients; therefore, they are often started on alternative therapies, which are less effective.

Miller Fisher syndrome associated with COVID 19.

Miller Fisher syndrome (MFS), is an acute peripheral neuropathy, a variant of Guillain-Barre syndrome, that develops following exposure to different viral, bacterial, and fungal pathogens. Patients usually present with a triad of ophthalmoplegia, ataxia, and areflexia. During Covid pandemic MFS has been described associated with novel coronavirus disease 2019 (COVID-19). Here we describe the clinical course, Cerebrospinal fluid (CSF) findings, nerve conduction studies, treatment and outcome of the patient having MFS concurrent with COVID 19.

Association of Forkhead Box P3 Gene Polymorphisms With Allograft Rejection Episodes in Kidney Transplant Patients: a Study From Kashmir, North India.

INTRODUCTION: The forkhead box P3 (FOXP3) gene is important for regulation and development of T cells, which are mediators of kidney allograft rejection. The FOXP3 gene polymorphism may be associated with the rejection of kidney transplants. This study was designed to determine the association of FOXP3 polymorphism with kidney transplant rejection. MATERIALS AND METHODS: A total of 118 kidney transplant patients were included in this study and were grouped into rejection (n = 31) and nonrejection (n = 87) groups. The FOXP3 rs3761548 gene was genotyped by polymerase chain reaction-restriction fragment length polymorphism using the taqman probe technique. Gene polymorphism at rs3761548 of the FOXP3 gene was analyzed for association with rejection episodes and graft outcome of kidney transplants. RESULTS: The CC genotype of rs3761548 was not present neither of the study nor the control group. The AA genotype was association with a higher risk of rejection compared to the C/A genotype (odds ratio, 2.329; 95% confidence interval, 1.041 to 5.210). The C/A genotype was also associated with a better response to treatment for rejection (odds ratio, 6.667; 95% confidence interval, 1.319 to 33.707) and better posttransplant graft function (odd ratio, 5.833; 95% confidence interval, 1.727 to 19.704). CONCLUSIONS: Our findings suggested an association between rejection episodes, posttransplant graft function, and the FOXP3 rs 3761648 polymorphism. Determination of FOXP3 rs 3761648 C/A genotype might be helpful for the identification of recipients with a lower risk of rejection and better graft survival.