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

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.

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).

Interleukin 32 gene promoter polymorphism: A genetic risk factor for multiple sclerosis in Kashmiri population.

Objective: Although the exact cause of multiple sclerosis is not known, there are a number of factors involved mainly environmental and genetic factors. The present study was done to determine association between IL-32 gene promoter polymorphism and IL-32 levels with multiple sclerosis.

Methods: 48 relapsing remitting multiple sclerosis patients and 60 healthy controls were compared for IL-32 gene promoter polymorphism and IL-32 levels.

Isolated neurobrucellosis-characteristic clinical and laboratory features.

To report various neurological syndromes, CSF findings, imaging and diagnostic methods used in neurobrucellosis patients admitted in our Neurology department over a period of 6 years. Case records of patients admitted to our department from August 2014 to May 2020 were searched for neurobrucellosis and data were obtained. A total of 19 patients were diagnosed as neurobrucellosis over a period of 6 years.

Differentiating secondary from primary dengue using IgG to IgM ratio in early dengue: an observational hospital based clinico-serological study from North India.

Background: Secondary dengue causes more severe disease than the primary. Early on, it is important to differentiate the two. We tried to find important clinical and laboratory differences between the two for the purpose of early differentiation.

A man with dilated superficial abdominal veins: A clinical presentation of non-Hodgkin lymphoma.

Background: The clinical presentation of non-Hodgkin lymphoma (NHL) varies tremendously depending upon the type of lymphoma and the areas of involvement. NHL can rarely present as an abdominal mass compressing the inferior vena cava. The clinical presentation due to obstruction of inferior vena cava has often been called the inferior vena cava syndrome (IVCS).

ANA Negative Systemic Lupus Erythematosus Leading to CTEPH, TTP-Like Thrombocytopenia, and Skin Ulcers.

SLE affects almost every organ system, with differing degrees of severity. During its clinical course periods of flares may alternate with periods of remission culminating in disease and therapy related damage. We describe a case of ANA negative SLE with severe thrombocytopenia, cutaneous vasculitis, antiphospholipid antibody syndrome, and pulmonary artery hypertension.

Neisseria lactamica Causing a Lung Cavity and Skin Rash in a Renal Transplant Patient: First Report from India.

Neisseria lactamica, a commensal, has been very rarely reported to cause diseases in immunocompromised hosts. In medical literature, there is only one report of a cavitatory lung lesion caused by it. The patient was a kidney transplant recipient.