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Background: Juvenile localized scleroderma (JLS) or morphoea, a rare chronic autoimmune disease predominantly affects skin, subcutaneous tissue and occasionally the adjacent muscle, fascia and bone. We report the largest single‐centre cohort of patients with JLS from India. Methods: Patients who were diagnosed to have JLS were enrolled from the Paediatric Dermatology Clinic and the Paediatric Rheumatology Clinic of a tertiary care referral hospital in India. Collected data included details of the clinical profile, laboratory investigations and management. Results: We analysed 84 patients with Juvenile localized scleroderma. Median age of disease onset was 5 years, and median age at diagnosis was 8 years. Commonest subtype was linear scleroderma (57 patients, 67.7%) followed by plaque morphoea and generalized morphoea. Fourteen patients (16.6%) were noted to have extracutaneous manifestations (ECMs). These included arthritis in eight (33.3%), brain parenchymal abnormalities in four (4.7%) and pulmonary involvement in two (8.3%) patients. Antinuclear antibody (ANA) was positive in eight/25 patients (32%; diffuse and speckled pattern in four patients each). One amongst these also had elevated anti‐dsDNA titres. Positive ANA was found to have no association with ECMs (p 1.000). Patients were treated using methotrexate (61 patients; 72.6%), dexamethasone oral mini‐pulse (OMP; 35 patients; 41.6%), calcipotriol (39 patients; 46.4%), topical corticosteroids (32 patients; 38%) and topical tacrolimus (three patients; 3.7%). Using linear regression analysis, administration of dexamethasone OMP and calcipotriol was found to be a predictor of good treatment response (p 0.034 and 0.019, respectively). Conclusion: Early use of systemic corticosteroids along with methotrexate may be more beneficial than methotrexate therapy alone. [ABSTRACT FROM AUTHOR]

Objectives: The objectives were to determine the proportion of elderly among the new psychiatry outpatient attendees, identify their sociodemographic profile and clinical presentations, and determine risk factors associated with suspected organic conditions in patients presenting with acute onset and chronic presentations. Methodology: This retrospective cross-sectional study focused on the elderly presenting with psychiatric symptoms to a psychiatric setting. The onset of symptoms at presentation was divided into acute and chronic conditions. Clinical symptom clusters and the risk factors associated with organic conditions were identified. The Chi-square and Fisher's exact test were used to find an association between factors and outcome (organic/functional). Results: Elderly seeking consultation constituted < 10% of total new case registration. Acute onset was seen in one-third and chronic presentation constituted nearly two-thirds of the group. The common clinical presentations with acute onset were acute psychosis, altered sensorium, and psychosis due to an organic etiology. The most common clinical presentation with chronic course was chronic psychosis. Nearly 40% had suspected organicity. Increasing age, structural abnormality in brain imaging, and the presence of stressors were risk factors for the onset of psychiatric presentation in the elderly (P = 0.001). Conclusion: Early detection of the clinical syndrome, identification of organic conditions, and appropriate and prompt referral to the general physician should be the rule for the care of the elderly presenting to a psychiatric facility. [ABSTRACT FROM AUTHOR]

Introduction: Epilepsy is the most common childhood neurological illness, which occurs in four to six per 1000 children. The maximum incidence of epilepsy occurs in children less than 3 years of age. The main objective of our study was to describe the etiological spectrum, EEG, and neuroimaging abnormalities and predictors of intractability in epilepsy. Methodology: A cross-sectional observational study was conducted over a 2-year duration at Dr DY Patil Medical College, Pune, Maharashtra, India. Hundred eligible children with epilepsy aged 3months to 2 years were included in the study. Appropriate statistical test such as Chi-square test and P value has been applied. SPSS software version 23 was used in our study. Results: Out of 100 children, 45% were in the age group of 19--24 months with M:F = 1.1:1. The mean age of onset of seizure was 11.6 ± 3.3 months. The majority of children belonged to lower-middle-class families (56%). Developmental delay was seen in 50%, and 43% had refractory epilepsy. The most common seizure type was focal onset (47%), followed by generalized onset seizures (37%). EEG findings were abnormal in 66%, multifocal IEDs being the most common abnormality (54.55%). MRI brain was normal in 27 cases, and out of 73 abnormal MRIs, the most common pattern seen was changes of perinatal and postnatal insults (75.3%). There was a statistically significant correlation between the type of seizures and MRI pattern with abnormal EEG (P <0.001). In 23% of children, no etiology was found, structural cause--62 (perinatal: 55; cortical malformation: 7), metabolic cause--nine, genetic etiology--six cases. The factors associated with refractory epilepsy in our cohort were the presence of developmental delay, abnormal neurological examination, abnormal EEG, and abnormal MRI (P < 0.001). Conclusion: Our study described the etiological spectrum of infantile-onset epilepsy, with the most common being acquired cause because of perinatal and postnatal insult to the developing brain. Earlyonset seizures have a high possibility of intractability, especially if it is associated with developmental delay, abnormal neurological examination, EEG, and neuroimaging. [ABSTRACT FROM AUTHOR]

The spectrum of movement disorders associated with anti N-Methyl- d -Aspartate-Receptor (NMDAR) encephalitis is myriad, particularly in children, possibilities of which were investigated from two tertiary care centres. A retrospective study was conducted in two tertiary referral centres in Eastern India, analysing data of 8 paediatric patients diagnosed as anti NMDAR encephalitis, presenting with one or more movement disorders (MDs). All the patients were of Bengali ethnicity with a median age of 9 years (3–16 years) and with female predilection (62.5%). CSF pleocytosis was a common feature in all. Seizures were described in 62.5%% of patients with a solitary patient exhibiting abnormalities on brain imaging. 3 out of 8 (37.5%) of patients presented with a single MD while the remaining had more than one type. Oro-linguo-facial dyskinesias and dystonia (37.5% each) were the most common movement type followed by chorea (12.5%). Complex stereotypies, myoclonus and facial tics were noted in one patient each. All patients received pulse methyl prednisolone. Escalation to second line therapy in form of rituximab was done for 5 patients (62.5%). Following immunotherapy, hyperkinetic movements resolved in 50% of patients, with persistence of movements in one (12.5%). A mortality of 37.5% was noted. Median duration of follow up was 26 months, during which none of the patients had evidence of systemic neoplasm. MDs are a core feature of anti NMDAR encephalitis, particularly in the paediatric age group, understanding and characterization of which, is the key to early diagnosis and effective therapy • Movement disorders are a distinct feature of anti NMDAR encephalitis, particularly in paediatric age group. • There is a wide spectrum of movement disorders often in combination, as elaborated in the illustrative videos. • Early and prompt recognition of movement semiology is essential to initiate therapy at earliest. • Anti NMDAR antibody mediated movement disorders may respond favourably to immunomodulation. • Recognizing the movement disorders is important in resource limited situations to curtail cost of unnecessary investigations. [ABSTRACT FROM AUTHOR]

A case study of a six‑year‑old female, second born of second‑degree consanguineous parentage, was delivered at term without any complications. Topics include Magnetic resonance imaging (MRI) of the brain at age 3 years, showed dysgenesis of the corpus callosum, bilateral front parietal polymicrogyria with abnormal cortical folding; and the electroneurographic study was confirmatory for the presence of diffuse sensorimotor demyelinating polyneuropathy.

Background: Gonadotropin-dependent precocious puberty (GDPP) is the most common cause of precocious puberty. Data on GDPP from Indian subcontinent is scarce. Objectives: We aim to describe single centre experience of patients with GDPP. Methods: The clinical, biochemical features and therapeutic outcomes of patients presenting with diagnosis of GDPP from Jan 2000 to July 2021 were analyzed. Results: 78 patients (girls, n = 61, 78.2%) with GDPP were included. The median age of pubertal onset (29 vs. 75 months) and age at presentation (58 vs. 82 months) was earlier in boys than in girls. The commonest presenting symptom was genitalia growth (76.47%) in boys and breast development (75.4%) in females, followed by height spurt (boys: 17.6%, girls: 11.4%), pubic hair development (boys: 5.8%, girls: 6.5%) and vaginal bleeding (6.5%). The height at presentation and target height SDS were 1.02 and -0.77 in males and 0.75 and -0.82 in females, respectively. In boys, median (range) basal serum FSH, LH and testosterone were 2.48 mIU/ml (0.42-5.7), 2.6 mIU/ml (0.52-10.01), and 3.75 ng/ml (0.1-8.27) respectively. In girls, the median (range) basal serum FSH and LH were 5.24 mIU/ml (1.03-19.8) and 2.2 mIU/ml (0.05-15.8); basal serum LH being <0.3 mIU/ml was seen in 11 females. The median post gonadotropin stimulated peak serum LH in the latter 11 females (age range: 82-99 months) was 9.37 mIU/ml (range: 5.42-19 mIU/ml). At 60 minutes, all except one patient reached a stimulated serum LH value of 3 5 mIU/ml. The median (range) difference in bone age and chronological age was 33 months (-2.0 to 98) and 2.5 months (4.0 to 76) in boys and girls, respectively. Ultrasonogram pelvis was available for 38 females. Uterine length 3 3.2 cm was found in 84.2% of patients. In boys, precocity-related MRI brain abnormality was seen in 80% whereas it was found in 23.6% of girls. Fifty-five patients were treated with injection leuprolide acetate depot [monthly 3.75 mg per (n = 2) or 7.5 mg (n = 1), three monthly 11.25 mg (n = 27) or 22.5 mg (n = 25)] whereas five patients were treated with triptorelin. Only one girl had an allergic reaction to leuprolide and was switched to triptorelin. In males, final height SDS was 0.16 (n = 2); in females, final height SDS was -0.25 (n = 20). MPH SDS in treated patients were -0.38 and -0.86 in boys and girls, respectively. Conclusion: GDPP was more common in girls. Post gonadotropin stimulated peak serum LH 35 mIU/ml at60 min aids in diagnosis in those with LH £0.3 mIU/ml. GnRH therapy helps in reducing height loss. [ABSTRACT FROM AUTHOR]

Objectives: To assess the spectrum of Magnetic Resonance Imaging (MRI) abnormalities among preterm babies at term equivalent age using objective scoring and to study the association among MRI variables.Methods: Ninety-four preterm babies born at ≤32 wk of gestation and / or birth weight ≤ 1500 g at term equivalent age who underwent cranial MRI between April 2011 and August 2012 and the MRI interpreted by experienced radiologists were studied. In 2014, the MRI was retrospectively re-interpreted by the same radiologists using an objective scoring system described by Kidokoro. Spectrum of MRI abnormalities, their association with perinatal variables and correlation among white matter (WM), grey matter and cerebellar scores were analyzed.Results: MRI abnormalities observed were WM signal abnormality (24 %), lateral ventricular dilatation (16 %), WM cystic abnormality (13 %), deep grey matter signal abnormality (9 %), cerebellar volume reduction (9 %) and deep grey matter volume reduction (8 %). Sepsis was significantly associated with occurrence of WM and cerebellar abnormalities (p < 0.05). WM scores did not show significant correlation with cortical grey matter and deep grey matter scores while cerebellar scores showed a weak positive correlation with WM (r = 0.33), cortical grey matter (r = 0.27) and deep grey matter scores (r = 0.22).Conclusions: MRI abnormalities are common in preterm infants, with 60 % showing some abnormality at term equivalent age. Among perinatal characteristics, sepsis was identified as risk factor for WM and cerebellar injury. Grey matter abnormality occurs independent of WM abnormality. Cerebellar abnormalities appear to coexist with either WM or grey matter changes. [ABSTRACT FROM AUTHOR]

Introduction: The most challenging component of spinal dysraphism is cord tethering. Tethering can occur due to single or multiple lesions within the same patient. It is imperative to aggressively identify and release all the tethering lesions in order to provide maximum benefit to the patient. With increasing number of tethering lesions, the clinical profile and outcome show significant differences, and this difference is significantly more when more than two tethering lesions coexist in the same patient. Material and methods: Out of the 248 patients of spinal dysraphism who underwent surgical management at Sanjay Gandhi Institute of Medical Sciences, Lucknow, India, between 1997 and 2007, 160 were included in the study. Patients were classified into two groups based on the number of tethering lesions. The first group (Group A) comprised cases of spinal dysraphism with tethering demonstrable at one or two sites. The second group (Group B) comprised patients with radiological or intraoperative evidence of multiple tethering lesions (more than two). Results: There were 119/160 patients in Group A, while 41/160 patients were in Group B (with more than two sites of tethering). The preoperative neurological examination revealed significant differences between the two study groups. The clinical profile and the surgical outcomes have shown significant differences in the two study groups. These differences are statistically significant. Conclusion: We strongly believe that the mere presence or absence of tethering is not a sufficient documentation to predict its effect on the cases of spinal dysraphism. Tethering is a complex entity that needs to be further classified in terms of the number of tethering lesions, which significantly affect the pre- and postoperative status of the patients. We would like to suggest the term 'Spina Bifida Multiplex' for the cases where more than two lesions are found to be responsible for tethering. [ABSTRACT FROM AUTHOR]

We report a 15-year-old boy with autosomal recessive complicated hereditary spastic paraplegia with a thin corpus callosum (HSP-TCC). The involvement of the corpus callosum was characteristic with the genu and body predominantly affected with relative sparing of the splenium. HSP-TCC is being increasingly recognized over a wider geographical area than earlier believed. We now report a case of HSP-TCC from the Indian subcontinent. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 14-month-old baby boy, only child of a third degree consanguineous marriage, presented with upper respiratory infection and an episode of simple febrile seizure. Fundus examination of both the eyes was abnormal and pupils were unequal and nonreactive. The article discusses Magnetic Resonance Imaging (MRI) results of the baby, peripheral vasculitis, and cerebellar cysts.

Objectives: To study the clinico-radiological profile and outcome of patients with ADEM, presenting to AIMS, a tertiary care referral center in Central Kerala. Materials and Methods: A total of 24 patients with diagnosed ADEM between 2005-2007 were analyzed in a retrospective -- prospective design. The criteria for diagnosis were (1) A monophasic illness (2) Polysymptomatic neurological dysfunction pertaining to cerebrum with or without spinal cord or peripheral nervous system involved (3) Neuro-imaging evidence of single or multiple demyelinating lesions were considered corroborative. Outcome was documented based on Modified Rankin Scale (MRS) Results: 24 patients, 13 females, 11 males, Mean age 22 yrs (1-71 yrs) were included in the study. A majority of 14 patients (58%) were less than 18 yrs and 2 patients were above 50yrs. Antecedent events were seen in 8 patients (33%), predominantly were short febrile episodes or upper respiratory tract infection. Diarrhoea was a preceding event in 2 patients. Mean preceding interval from infection to onset of symptoms was 12 days. Mean interval from onset of symptoms to admission in our hospital was 8 days. The most common symptoms were motor weakness (52%) Cranial nerve involvement (25%), diplopia and visual blurring (50%), bulbar (50%) LMN facial (33%). Gait ataxia was the initial symptoms in (25%), dysarthria (53%), altered sensorium (16%), bladder symptoms and meningism (25%) MRI was done in 22 patients (91%) and was abnormal in 16 (72%). The most common finding in MRI was T2W hyperintensities in subcortical and periventricular white matter (27%). Cerebellar peduncles were involved in 2 patients. Deep grey matter (Thalamus + Basal ganglia) lesion seen in 7 patients (32%). Brain stem lesion in 4 patients and spinal cord hyperintensities in 3 patients. 2 patient showed evidence of Tumefactive demyelination which was confirmed by Brain Biopsy. The radiological features in these two patients were (1) solitary lesion (2) lesion confined to only white matter (3) peri-lesional edema less compared to the size of lesion (4) presence of a 'OPEN RING' sign. MR Spectroscopy in these 2 patients were abnormal. 3 patients who initially had normal MRI on repeating within a week showed multiple white matter hyperintensities. CT was done in 10 patients and was abnormal in 4. CSF study was done on 21 patients. Opening pressure was normal in all patients. CSF pleocytosis varied form (2-102 cell/ mm 336) (mean 22 cells). 2 patients had cell count above 100. The CSF protein ranged from (20-104 mg/dl)-mean 45 mg/dl. CSF glucose was normal in all patients. Commonest complications were respiratory failure and hospital acquired pneumonia. All patients received IV methylprednisolone followed by oral steroids. 6 patients received IVIG+ Methylprednisolone followed by oral steroids. All of them were children below 10 yrs. Overall prognosis on follow up were good with 42% patient achieving a MRS scale of 0-1 at 3 month of discharge. Plasmapharesis was done in one patient. One patient had recurrence of symptoms after a febrile episode and one patient with medullary and extensive spinal cord involvement on ventilator expired due to nosocomial pneumonia. Conclusion: We present this series because -- 1. Indian clinical series on ADEM are few. 2. Awareness regarding Tumefactive demyelination where a combination of clinical, radiological and MR Spectroscopy can clinch the diagnosis. 3. Need for repeating the MRI if clinical suspicion of ADEM is high. [ABSTRACT FROM AUTHOR]

Objective: Folate metabolism involves absorption, transport, modifications and interconversions of folates. The reduced folate carrier does not participate directly in folate metabolism but plays a major role in intracellular transport of metabolically active 5-methyltetrahydrofolate and maintains the intracellular concentrations of folate. The purpose of this study was to identify the prevalence of reduced folate carrier 1 (RFC1) A80G polymorphism and to further delineate its association with non-syndromic cleft lip and palate (NSCLP) in a south Indian population., Methods: In the present case-control study, we studied RFC1 gene A80G polymorphism to evaluate its impact on NSCLP risk in south Indian population. Blood samples of 142 cases with NSCLP and 141 controls were collected and genotyped using PCR-RFLP., Results: The genotype distribution in the control group followed Hardy-Weinberg equilibrium (p = 0.633). The G allele frequency of cases was 64.8% (184/284) and was significantly lower than that found in the control group 56.4% (160/282). The genotype distributions between NSCLP cases and controls was not significantly different (p = 0.131). The allelic model significantly increased the risk of NSCLP (G versus A; OR = 1.40; 95% CI: 1.00-1.97; p = 0.050). In subgroup analysis, the A80G variant showed significant association for the CLP group in dominant and allelic models., Conclusions: Altogether, our findings support the hypothesis that RFC1 A80G variant may contribute to NSCLP susceptibility in a south Indian population.

Objectives: Several lines of evidence suggest that the decrease in folate in periconceptional period or maternal use of folate antagonists has been associated with a higher risk of orofacial clefts (OFCs). MTHFR is a critical enzyme in folate metabolism that catalyzes the irreversible conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, thus playing a vital role in DNA synthesis and DNA methylation. The aim of our study was to determine whether there is any association between the susceptibility to Nonsyndromic cleft lip with or without cleft palate (NSCL/P) amongst the variations of MTHFR genotypes in South Indian population., Methods: Our sample comprised 123 cases with NSCL/P and 141 controls without clefts or family history of clefting. The most common polymorphisms C677T (rs1801133) and A1298C (rs1801131) on the MTHFR gene were screened for the genotypes using PCR-RFLP., Results: Both C677T and A1298C are polymorphic with minor allele frequencies of 0.131 and 0.429, respectively, for controls. Genotype data in control and cleft groups are following the Hardy Weinberg Equilibrium. There were no significant differences in genotypes of both polymorphisms between controls and NSCL/P. The pairwise LD values (D' and r(2)) between C677T and A1298C are 1.0 and 0.096 respectively indicating no significant LD between these two SNPs. Haplotype phenotype analysis did not show the evidence for association. Gene-gene interaction showed the distribution of the observed combinations of the two MTHFR polymorphisms was not different between NSCL/P and controls (p=0.887)., Conclusions: Our results do not support the hypothesis, that variants in the MTHFR gene confer a risk for NSCL/P in the South Indian population., (Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.)

Over a 10-year period, we reviewed 30 patients with leukodystrophy, megalencephaly, and a relatively benign course. Most of these patients (26) belonged to a distinctive ethnic group called the Agrawals. Head circumference exceeded the 95th percentile in 28 patients; 22 patients had seizures; 22 had pyramidal signs (16 more pronounced and 6 mild); and 16 had cerebellar ataxia. The median age of onset of symptoms was 1.8 years. Interictal electroencephalogram (EEG) was abnormal in 21 of 23 patients. The inheritance is possibly autosomal recessive.

Three thousand nine hundred and thirty-two consecutive newborns were examined at birth for the presence of congenital malformations. The overall incidence of malformations was 1.2%. Congenital malformations accounted for 9.2% of perinatal and 12.8% of neonatal deaths. The central nervous system (39.5%) was most commonly involved followed by musculoskeletal system (14.5%). Involvement of more than one system was observed in 18.8% cases. Though there was higher incidence of malformations in babies born to mothers of more than 35 years the difference was not statistically significant. However, the babies born to mothers of gravidity 4 or more had significantly higher incidence of malformation when compared to mothers of lower gravidity (chi1(2) = 4.67, p < 0.05). The incidence of congenital malformations at birth was higher in stillborn and low birthweight babies.