Antigen sequence typing of outer membrane protein (fetA) gene of Neisseria meningitidis serogroup A from Delhi & adjoining areas.

Background & objectives: Meningitis caused by Neisseria meningitidis is a fatal disease. Meningococcal meningitis is an endemic disease in Delhi and irregular pattern of outbreaks has been reported in India. All these outbreaks were associated with serogroup A. Detailed molecular characterization of N. meningitidis is required for the management of this fatal disease. In this study, we characterized antigenic diversity of surface exposed outer membrane protein (OMP) FetA antigen of N. meningitidis serogroup A isolates obtained from cases of invasive meningococcal meningitis in Delhi, India. Methods: Eight isolates of N. meningitidis were collected from cerebrospinal fluid during October 2008 to May 2011 from occasional cases of meningococcal meningitis. Seven isolates were from outbreaks of meningococcal meningitis in 2005-2006 in Delhi and its adjoining areas. These were subjected to molecular typing of fetA gene, an outer membrane protein gene. Results: All 15 N. meningitides isolates studied were serogroup A. This surface exposed porin is putatively under immune pressure. Hence as a part of molecular characterization, genotyping was carried out to find out the diversity in outer membrane protein (FetA) gene among the circulating isolates of N. meningitidis. All 15 isolates proved to be of the same existing allele type of FetA variable region (VR) when matched with global database. The allele found was F3-1 for all the isolates. Interpretation & conclusions: There was no diversity reported in the outer membrane protein FetA in the present study and hence this protein appeared to be a stable molecule. More studies on molecular characterization of FetA antigen are required from different serogroups circulating in different parts of the world.

Holocord Syrinx, Tethered Cord and Diastematomyelia: Case Report and Review of Literature.

Syringomyelia refers to the presence of cavities within the spinal cord or a dilatation of the central spinal cord canal. In 90% of cases, syringomyelia is associated with a Chiari I malformation. The association of syringomyelia with tethered cord is well known but syrinxes associated with these defects are usually below vertebral level T6. Holocord syrinx associated with tethered cord is rare and is almost always associated with Chiari 1 malformation. To the best of our knowledge, only a single case report of holocord syrinx with tethered cord has been reported, but this patient had multiple overt lumbosacral defects (tethered cord, meningocele and diastematomyelia). We are reporting a three year old child with holocord syrinx with tethered cord and diastematomyelia and no evidence of Chiari malformation, meningocele or any overt spinal malformation and minimal neurological abnormalities.

Edward’s syndrome with a novel karyotype.

Edward’s syndrome was first described as a clinical entity in 1960 as a disorder of trisomy 18 (47 XX/XY; + 18) in babies with particular pattern of malformations. The Karyotype found in our case was (47 XX + 18 add (22) (p13) which has not been published so far in the literature. The less common findings noted in the baby were rocker bottom feet, syndactyly of 2nd and 3rd toes, microcephaly and corneal opacities. Though we didn’t find any significant association between phenotypic ranges with genotypic variation in literature, but further research is needed for it. We are reporting this case as the genotype is found to be novel.

Hypovitaminosis D and Hypocalcemic Seizures in Infancy.

Background: Hypocalcemia accounts for a majority of seizures in infants reporting to the emergency ward of our hospital. Objective: To evaluate the role of Vitamin D deficiency in the etiology of hypocalcemic seizures in infancy. Design and Setting: Cross sectional hospital based study, from April 2006-March 2007. Subjects: 60 infants with hypocalcemic seizures and their mothers (study group) and 60 healthy breastfed infants with their lactating mothers (control group). Measurements: Vitamin D [25(OH) D] and intact parathormone levels. Results: High prevalence of hypovitaminosis D [25(OH)D levels <10 ng/mL] was observed in study mothers (85%), control mothers (50%), study infants (90%), and control infants (41.7%). Mean serum 25(OH) D values in study mothers and their infants (6.54 ± 5.32 ng/mL and 4.92 ± 4.62 ng/mL) were significantly lower than those of motherinfant pairs (9.06 ± 4.78 ng/mL and 9.03 ± 4.63 ng/mL) in the control group (P<0.001). A strong positive correlation of 25(OH) D levels between mothers and their infants was seen in both the study and control populations (P<0.001). Of the 54 study infants who had 25(OH)D levels <10ng/ mL, 48 (89%) were born to mothers who also had 25(OH) D levels <10ng/mL. Conclusions: Vitamin D deficiency is a major cause of hypocalcemic seizures in infants. Infants born to vitamin D deficient mothers are at a significantly higher risk to develop hypocalcemic seizures.

Rare serotype non-typhoidal Salmonella sepsis.

An 11-month female with a poor socio-economic status presented to a tertiary care paediatric hospital with complaints of fever of 4-5 days and diarrhoea of 20 days duration. The patient didn't respond to the prescribed antimicrobials namely--Norfloxacin and metronidazole. On admission she was diagnosed as persistent diarrhea with PEM grade III with sepsis. Stool examination and culture were negative for any pathogens, however blood culture yielded growth of Salmonella Virchow which was susceptible to most common antimicrobial agents excepting Trimethoprim Sulfamethoxazole. Salmonella Virchow is a common non-typhoidal Salmonellae causing bacteremia in the west, however this is the first report of bacteremia by S. virchow from India.

Berardinelli-Seip congenital lipodystrophy.

Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. On the basis of mutational and haplotype analysis, BSCL families have been classified into three types BSCL 1, BSCL2 and BSCLX. We report Berardinelli-Seip congenital lipodystrophy (BSCL2 type) in three subjects from two unrelated Indian families (family1 and family2). The mutation (c.IVS2 11 A GT G ) found in affected members of family1 is a newly identified mutation. We also report the association of renal anomaly with this new mutation.

Sleep and childhood epilepsy.

The inter-relationship between sleep and epilepsy is well recognized. Sleep is known to activate inter-ictal epileptiform discharges. A special timing of seizure in relation to sleep wake cycle is certainly a childhood epileptic syndrome. Children with epilepsy commonly have sleep problems which may be due to seizures or due to anxiety. Somnolence and diurnal sedation are frequent side effects of anti-epileptic drugs. Thus epilepsy and its treatment can affect sleep leading to adverse effect on behavior, cognition and seizure control. Lack of sleep is an important trigger for epileptic seizures, therefore regular sleep must be a part of management strategy in children with epilepsy.

Acute disseminated encephalomyelitis--a case series.

Acute disseminated encephalomyelitis(ADEM) is an uncommon inflammatory demyelinating disease involving central nervous system white matter. A series of seven cases seen over a period of one year have been described. The patients presented with acute onset of focal neurological deficit (3 patients), alteration of sensorium(3) and ataxia(1). CT scan showed non specific hypodensity in 4 cases and was normal in 3 patients . MRI showed characteristic radiological changes. Complete recovery was seen in 3 patients , one died and 3 were left with sequelae.

Spina bifida occulta in functional enuresis.

OBJECTIVE: To study incidence of spina bifida occulta in nocturnal enuresis cases and to compare outcome of enuresis with spina bifida occulta and enuresis without spina bifida occulta. METHODS: Patients with enuresis divided into two groups based on X-ray lumbosacral spine. Outcome of these patients were compared on behavioral therapy. RESULTS: Spina bifida occulta was detected in 18 out of total 48 patients. Levels of spina bifida were L5 vertebrae in 3,L5-S1 in 5,S1 in 8 and S1-S2 in 2 patients. Outcome was evaluated in 42 patients who were followed up for more than 6 months. There was no significant difference between both the groups. CONCLUSION: Spina bifida occulta is a common finding in enuresis. Outcome of patients with spina bifida occulta is not different than the patients without spina bifida occulta.

Diabetes mellitus in an infant.

Onset of diabetes in the first year of life is uncommon, most cases being those of transient diabetes of the newborn. We report the case of a child who presented at 10 weeks of age with diabetic keto-acidosis, and continues to be insulin dependent at 18 months.

Evaluation of a child with cerebral palsy.

Evaluation of a child with cerebral palsy (CP) requires a multidisciplinary approach with a team of professionals comprising of a pediatrician or pediatric neurologist, occupational therapist, a physiotherapist, child psychologist, and a social worker. The assessment is necessary to confirm the diagnosis, determine the cause, assess the motor function and associated problems. The diagnosis of CP is clinical but selected investigations may be required for ascertaining the cause. Evaluation includes assessment for common medical problems of childhood particularly nutritional disorders and assessment of family functioning. Additional disabilities are common. Routine assessment of vision and hearing is required in children with CP. Since CP is a changing disorder, some limitations may not be evident early in life but manifest in the school age or later. The evaluation of a child with CP is an ongoing process and should be a part of continuing care as the child grows from infancy to adolescence.

Current drug therapy of protozoal diarrhoea.

Protozoal infections of the gastrointestinal tract occur worldwide and have substantial morbidity and mortality. Prevalence is higher in the economically deprived regions of the world, especially the developing countries. Infections like amoebiasis and giardiasis have a worldwide distribution, being endemic in India. Apart from producing GI symptoms, growth and development of children is also impaired. It is seen that protozoa multiply rapidly in their hosts and as there is a lack of effective vaccines, chemotherapy has been the only practiced way to treat individuals and reduce transmission. The current treatment modalities for protozoal diarrhoea include 5-nitrosoimidazoles, iodoquinol, diloxanide furoate, paromomycin, chloroquine, and trimethoprim-sulphamethoxazole.

Pelvic ultrasonography in pubertal girls.

OBJECTIVE: To derive norms for the size of uterus, uterine shape (fundal-cervical ratio) and ovarian volume in girls in various Tanners stages of puberty. METHODS: Pelvic ultrasound was performed in ninety-two healthy girls in the age group of 8-15 years. These included twenty girls each in Tanner stages 1-4 and twelve in stage 5. All the subjects enrolled in the study had a weight and height within 5th-95th percentile of NCHS standards and their bone ages corresponded to the chronological age. Uterine height, fundal-cervical ratio (FCR) and ovarian volume were measured in all the subjects. The data was stratified according to various pubertal stages as well as for different ages. Statistical analysis was carried out to derive the percentiles for the three parameters in different pubertal stages and to study the correlation between these parameters and age, weight and height of the subjects. RESULTS: A statistically significant increase in uterine height, FCR and ovarian volume was observed with progressive pubertal stages. Maximum increase in uterine height was observed during the transition from stage 2 to stage 3. All girls beyond the age of 10 years or beyond Tanner stage 2 had a FCR>1. The ovarian volume, after showing an initial increase, tended to plateau and there was no significant increase from stage 4-stage 5. A significant correlation was found between the three parameters and the subject's age, weight and height, the maximum correlation was with age (correlation coefficients being 0.748, 0.648, 0.568 for uterine height, FCR and ovarian volume respectively). Centiles for these parameters were obtained for different pubertal stages. CONCLUSION: This work has provided some guidelines for normative data for various pubertal stages as well as for ages between 8-15 years. These may be used as a reference in evaluation of patients with suspected disorders of puberty.

Nocturnal enuresis.

Childhood enuresis is a common socially disruptive problem. The possible pathophysiological factors include a disorder of sleep arousal, nocturnal polyuria, and low bladder capacity. The evaluation of a patient with nocturnal enuresis is aimed to exclude any organic pathology, UTI and voiding dysfunction. An approach to management of this common disorder is outlined.

Spontaneous bladder rupture secondary to posterior urethral valves in a neonate.

Bladder rupture is a rare cause of ascites in neonates. A review of literature revealed about 32 cases including both iatrogenic and spontaneous rupture. This case report describes a successfully treated case of spontaneous rupture of bladder with ascites in a neonate with posterior urethral valves.

Feeding problems in children with cerebral palsy.

OBJECTIVE: To determine the magnitude and extent of feeding problems in children with cerebral palsy (CP) and to evaluate the effectiveness of nutritional interventions. DESIGN: Prospective hospital based interventional study. METHOD: Children with cerebral palsy of either sex were enrolled randomly and their parents were interviewed for their perception about feeding problems, nutritional status and for their views about the expected outcome of feeding problems. Each case was assessed for feeding problems based on Gisel and Patrick feeding skill score; for nutritional status by measurement of weight, skinfold thickness (at biceps, triceps, suprailiac and subscapular), mid arm circumference and caloric intake; neurologically for type and severity of cerebral palsy and for developmental age by Gasell s developmental scale. Equal number of age and sex matched controls were included for comparison of nutritional status and developmental quotient. Various rehabilitation procedures were applied and their response was observed in the followup ranging from 3-10 months. RESULTS: One hundred children (76 boys and 24 girls) with cerebral palsy of mean age 2.5 years (range 1 to 9 years) and mean developmental age of 7.6 months (range 1 to 36 months) were included in the study. Oral motor dysfunction (OMD) was found in all cases and in each category. Spastic quadriplegic cerebral palsy (SQCP) and hypotonic patients had significantly poor feeding skill score (p < 0.001). Mean duration of feeding session was 31.5 minutes (range 10-60 minutes). Main food of children with cerebral palsy consisted of liquid and semisolid diet. Children with poor OMD were unable to take solid food. Cases with seizures had significantly more feeding problems than those without seizures (p < 0.001). Parental awareness about feeding problems of their children was significantly low and they overestimated the nutritional status of their children. Anthropometric indicators were significantly lower than controls (p < 0.001). Spastic quadreparesis, hypotonia and poor feeding skill score had negative effect on nutritional status. Thirty per cent parents of cerebral palsy patients were pessimistic about the possibility of any improvement in feeding problems. After nutritional rehabilitation, good improvement was seen in feeding problems, OMD and nutritional status. CONCLUSION: Nutritional status of children with cerebral palsy is poor due to summation of several factors. Therefore, they should be thoroughly assessed for feeding problems and nutritional status in order to start timely nutritional rehabilitation which can significantly improve their nutritional status and quality of life.

Epilepsy in children with cerebral palsy.

This article deals with the clinical profile of children with cerebral palsy and epilepsy, and to study the clinical predictors of response to anti-epileptic drugs. It is a prospective hospital based follow-up study. All the children who presented with cerebral palsy and history of seizure (other than neonatal seizures) over a period of one year were included. Seizures were classified according to ILAE classification. An EEG was obtained in all cases. Neuroimaging was done in all patients. Eighty-five patients were studied and followed for minimum of 12 months. Perinatal factors accounted for 62 (72.3%) cases. The motor deficits seen were quadriparesis (n = 64), hemiplegia (n = 12) and diplegia (n = 9). Associated mental retardation was seen in 80.9% patients with quadriparesis. A predominance of generalised epilepsy was seen with generalised tonic clonic seizures (32.9%) followed by mycolonic seizures (30.6%) and localisation related epilepsy (24.7%). The patients with quadriparesis were more likely to have generalised epilepsy and 52.4% of them required two or more anti-epileptic drugs for control of seizures. Patients with hemiplegia had localisation related epilepsy in 83.3% of cases. On multivariate analysis presence of quadriparesis, microcephaly, mental retardation and myoclonic epilepsy were found to predict the poor response to AED. Epilepsy in patients with cerebral palsy is of severe nature and difficult to control. Presence of quadriparesis, mental retardation and myoclonic seizures was predictive of poor response to anti- epileptic drugs.

CSF interleukin-1 beta, tumor necrosis factor-alpha and free radicals production in relation to clinical outcome in acute bacterial meningitis.

OBJECTIVE: To study the relationship of CSF IL-1 beta and TNF-alpha with free radicals in acute bacterial meningitis (ABM) and to evaluate the clinical outcome in relation to the levels of these cytokines and free radicals in CSF. DESIGN: Prospective with controls. SETTING: Referral unit of a teaching hospital. METHODS: 32 children between 3m-12 yrs of age with proven acute bacterial meningitis comprised the study group. In the control group, 20 children with febrile seizures were included. CSF cytokines- Interleukin Ib and tumour necrosis factor a,free radicals O(2)-, H(2)O(2) and enzymes SOD and CPK were measured in all the children. RESULTS: CSF IL-Ib and TNF-a concentration were markedly elevated in children with ABM (441.5 +/- 216.1 pg/ml, and 1009 +/- 529.1 pg/ml, respectively) as compared to controls (52.67 +/- 6.92 pg/ml, and 86.42 +/- 16.24 pg/ml) (p <0.0001). Free radicals viz., superoxide anion, hydrogen peroxide production and enzymes creatinine phosphokinase and superoxide dismutase were also significantly elevated in ABM as compared to controls. There was direct correlation of CSF cytokines with CSF cytology, protein and free radicals production in ABM. Patients who expired or had neurological sequelae had markedly elevated concentrations of cytokines and free radicals. CONCLUSION: IL-I beta, TNF-alpha and free radicals are significantly elevated in CSF of patients with ABM. The concentration of these cytokines correlated well with free radical production, and with routinely measured CSF parameters and had a direct bearing on outcome of ABM