Background: To describe the clinical features and therapeutic outcomes of a prospective cohort of children with eosinophilic meningoencephalitis.
Methods: Children admitted with clinical features suggestive of meningitis along with cerebrospinal fluid (CSF) eosinophilia during the period of 14 years (2008 to 2021) were included. Their baseline characteristics, epidemiologic associations, and treatment outcomes were analyzed and compared with the previous studies.
The sodium (Na):multivitamin transporter (SMVT), encoded by SLC5A6, belongs to the sodium:solute symporter family and is required for the Na-dependent uptake of biotin (vitamin B7), pantothenic acid (vitamin B5), the vitamin-like substance α-lipoic acid, and iodide. Compound heterozygous SLC5A6 variants have been reported in individuals with variable multisystemic disorder, including failure to thrive, developmental delay, seizures, cerebral palsy, brain atrophy, gastrointestinal problems, immunodeficiency, and/or osteopenia. We expand the phenotypic spectrum associated with biallelic SLC5A6 variants affecting function by reporting five individuals from three families with motor neuropathies.
View Article and Find Full Text PDFEosinophilic meningitis caused by human diroflarial infection is rare. We report a case of eosinophilic meningitis and concomitant intraocular dirofilarial infection in India. Sequencing of the mitochondrial genome identified the worm as Dirofilaria sp.
View Article and Find Full Text PDFIntroduction: Anti-N-methyl-d-aspartate receptor (Anti-NMDAR) Encephalitis classically presents with polysymptomatic presentation of behavioral or cognitive changes, seizures, and focal deficits. Large series in adults and children have described the above features. Monosymptomatic presentation of Anti NMDAR encephalitis is rare and in literature single case reports in adults and children are available.
View Article and Find Full Text PDFAcute arterial ischemic stroke after minor head trauma has been reported in the past, mostly in infants. Most of these affected children had basal ganglia infarct on imaging. Investigations for other etiologies of stroke were noncontributory in most of the cases.
View Article and Find Full Text PDFgene encodes a sodium-gated potassium channel subunit that plays an important role in regulating excitability in neurons. Quinidine is a partial antagonist of this channel. We report the clinical characteristics of two south Indian children with -related epileptic encephalopathy.
View Article and Find Full Text PDFIntroduction: Orthostatic hypotension is defined as a sustained decrease in systolic blood pressure of 20 mm Hg or a decrease in diastolic blood pressure of 10 mm Hg within three minutes of standing compared with blood pressure from the sitting or supine position or by head-up tilt-table testing (1). When sustained blood pressure (BP) drop is after three minutes of upright posture it is called delayed orthostatic hypotension (delayed OH) (2).
Aim Of The Study: To detect the incidence of delayed orthostatic hypotension in patients referred to our autonomic lab.
Hyperphosphatasia with mental retardation syndrome is a heterogeneous genetic condition. Two siblings aged 5 years and 3 years were evaluated for global development delay and facial dysmorphism. A novel missense variant, c.
View Article and Find Full Text PDFPurpose: To describe the clinical features and outcome of febrile infection-related epilepsy syndrome (FIRES), a catastrophic epileptic encephalopathy, in a cohort of South Indian children.
Materials And Methods: We performed a retrospective chart review of a cohort of children with previously normal development who presented with status epilepticus or encephalopathy with recurrent seizures following a nonspecific febrile illness during the period between January 2007 and January 2012. They were divided into two groups super refractory status epilepticus (SRSE) and refractory status epilepticus (RSE) depending on the duration and severity of the seizures.
Objective: To describe the clinical characteristics of a cohort of south Indian children with probable autoimmune encephalopathy from a tertiary care academic hospital and to compare this data with the existing literature.
Methods: Patients with encephalopathy plus one or more of neuropsychiatric symptoms, seizures, movement disorder or cognitive dysfunction were identified. Common infectious causes were excluded.
Objectives: We present a case series of patients who underwent perirolandic resection for medically refractory focal epilepsy due to focal cortical dysplasia (FCD). Our aim was to specifically evaluate the outcome of a surgical strategy intended for seizure freedom while preserving primary motor cortex function.
Materials And Methods: Thirteen patients undergoing perirolandic resection for pharmacoresistant focal epilepsy between 2010 and 2015 who demonstrated histological evidence of FCD were selected from a prospectively maintained database.
J Family Med Prim Care
July 2013
Diabetic neuropathy has varied clinical presentations. As clinicians we should be aware of the common as well as rare manifestations of this syndrome. Diabetic truncal neuropathy presenting as a painful pseudoabdominal mass can easily mislead clinicians who are unaware of this problem.
View Article and Find Full Text PDFBackground: Idiopathic intracranial hypertension (IIH) is a well described entity in adults. In pediatric age group the presentation of disease can vary depending on the age of patients and is less frequently reported.
Aim: The aim of this study is to describe the clinical features, investigations, treatment and outcome of IIH in pediatric population (age <18 years).