BMJ Case Rep
March 2025
Cerebrotendinous xanthomatosis (CTX) is a rare lipid storage disorder, and palatal tremor, as well as inferior olivary hypertrophy in its clinical spectrum, is exceptional. A man in his 30s who presented with bilateral lower limb weakness and spasticity, progressively enlarging swelling in bilateral Achilles region and a history of intellectual disability and childhood bilateral cataracts was found to have a palatal tremor on examination and inferior olivary hypertrophy on neuroimaging. This case demonstrates some of the classical clinical and neuroimaging findings, as well as some uncommon features associated with CTX.
View Article and Find Full Text PDFTuberculosis (Edinb)
July 2024
Behav Brain Res
February 2024
Introduction: The status of vascular endothelial-derived growth factor (VEGF) in the pathogenesis of tuberculous meningitis (TBM) remains far from clear. We prospectively evaluated the role of serum and cerebrospinal fluid (CSF) VEGF in TBM.
Patients And Methods: This prospective study was conducted at a tertiary care center in North India from January 2018 to June 2019.
Setting: Tubercular lymphadenitis (TBLA), the most common form of extrapulmonary tuberculosis, is a diagnostic challenge.
Objective: Truenat MTB Plus (TruPlus) along with Truenat Rif assay (TruRif) was evaluated for detection of TBLA and rifampicin resistance and compared with GeneXpert Ultra (Xpert Ultra).
Design: 100 fine-needle aspirated specimens [50 confirmed by culture/smear/cytology, 20 clinically suspected, and 30 controls], processed in the mycobacteriology division of department of microbiology were subjected to TruPlus and TruRif, Xpert Ultra and multiplex PCR.
Tuberculosis (Edinb)
May 2023
Setting: Nucleic acid amplification techniques like GeneXpert and GeneXpert Ultra (Xpert Ultra), the first-line tests for diagnosing Tuberculous meningitis (TBM), are expensive and depend on sophisticated equipment.
Objective: The diagnostic potential of multitargeted loop-mediated isothermal assay (MLAMP), a low-cost simple test using novel gene combination, was evaluated for TBM.
Design: 300 CSF specimen (200 TBM patients, 100 controls) processed between January 2017 and December 2021 were subjected to MLAMP (using sdaA, IS1081 and IS6110 gene targets), sdaA PCR and Xpert Ultra.
Scrub typhus is a tropical febrile illness that mainly affects rural populations in tropical and subtropical countries. It can range in severity from a mild febrile illness to multisystem involvement. Systemic dysfunction often appears in the second week of sickness, and hepatic, renal and brain involvement are well documented.
View Article and Find Full Text PDFAnn Indian Acad Neurol
November 2022