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Major Histocompatibility Complex (MHC) Class II deficiency is a rare autosomal recessive primary immunodeficiency caused by mutations in regulatory genes of MHC Class II proteins. Clinical manifestations include respiratory/gastrointestinal infections, failure-to-thrive, septicemia and early death. A 9-mo-old-girl presented with repeated episodes of pneumonia requiring hospitalization and ventilator support since the last 5 mo. Examination revealed absent tonsils, sparse scalp-hair, seborrhea and firm hepato-splenomegaly. Radiograph showed absence of thymic shadow with diffuse pulmonary infiltrates. CT scan showed multiple bilateral ground glass pulmonary opacities with patchy consolidation. Primary immunodeficiency disorder was suspected in view of repeated pulmonary infections, failure to thrive and suggestive family history. Lymphocyte subset assay revealed lymphocytopenia and HLA typing showed absence of HLA-DR expression on B cells suggestive of MHC Class II deficiency. Targeted gene panel detected a homozygous mutation in the RFX-5 gene (RFX5: c.848_849del:p.R283Tfs*6;Homozygous). Though this patient succumbed, parents have been counseled regarding need for prenatal diagnosis., (© 2023. The Author(s), under exclusive licence to Dr. K C Chaudhuri Foundation.)

Neonatal diabetes mellitus and organic acidemias, may present with similar features like hyperglycemia, ketoacidosis and failure to thrive. A four-mo-old girl presented with diabetic ketoacidosis following a febrile respiratory illness during which high anion gap metabolic acidosis and hyperglycemia were detected. She also had hyperammonemia, which led to diagnostic uncertainty. Euglycemia was achieved with insulin injections. Genotyping revealed a homozygous novel mutation of the ABCC8 gene coding for the SUR1 subunit of the pancreatic beta cell potassium channel. Subsequently, the child was successfully transitioned to oral glibenclamide therapy. Developmental delay was noted on follow-up which raised the possibility of intermediate DEND syndrome. A possible cause for hyperammonemia in neonatal diabetes mellitus has been postulated in the discussion.

The Asia Pacific Pediatric Association Vaccinology Update 2010 (APPA VU 2010) was held in Mumbai on November 13-14, 2010. This second part of the conference report discusses the interesting information about vaccines which are expected in the near future, namely, live-attenuated Japanese encephalitis virus vaccine, tetravalent dengue virus vaccine, conjugate typhoid vaccine and conjugate meningococcal A vaccine.

Objective: To evaluate the impact of co-occurring attention-deficit/hyperactivity disorder (ADHD) on the health-related quality of life (HRQOL) of children with newly diagnosed specific learning disability (SpLD)., Methods: From September 2005 to March 2006, 150 parents (either mother or father) of children consecutively diagnosed as having SpLD were enrolled. The Child Health Questionnaire-Parent Form 50 (CHQ-PF50) was used to measure parent-reported HRQOL. CHQ-PF50 mean domain and summary scores computed for "SpLD/ADHD" and "SpLD only" children groups were compared using Independent Samples t-test., Results: HRQOL of "SpLD/ADHD" children was significantly poorer in four domains: emotional impact on parents (mean difference: -11.0; 95% CI: -18.75--3.25; P = 0.006), general behavior (-9.61; 95% CI: -15.44--3.78; P = 0.002), time impact on parents (-9.51; 95% CI: -18.42--0.60; P = 0.038), and, self esteem (-7.62; 95% CI: -13.98--1.26; P = 0.020); and in overall psychosocial functioning (-5.34; 95% CI: -8.49--2.19; P = 0.001)., Conclusion: Co-occurring ADHD adversely impacts the HRQOL of children with newly diagnosed SpLD especially in domains related to their psychosocial functioning.

Objective: To investigate whether serum total alkaline phosphatase (ALP), bone-specific ALP (bone ALP), calcium, phosphorus, 25-hydroxyvitamin D (25-OHvit D) concentrations are altered early in the course of treatment with carbamazepine or valproic acid monotherapy in ambulatory children with adequate sun exposure; and to determine the effectiveness of simultaneous supplementation with calcium and 25-OHvit D at recommended dietary allowance doses on these biochemical parameters., Methods: For each drug, children were divided into two groups (Group A: without supplementation; and Group B: with supplementation) and serum biochemical parameters estimated at 0, 30, 60, and 90 days of starting treatment., Statistical Analysis: Serial changes in serum biochemical parameters (mean +/- SD) were compared within each of the four groups using student's paired t test. Also for each drug, serum biochemical parameters were compared between Groups A and B at 0, 30, 60, and 90 days of starting treatment using student's unpaired t test., Results: For both drugs, in Group A, serum total ALP levels were significantly increased above the normal range (P<0.0001) by 90 days of starting treatment; however, serum bone ALP level was significantly increased (P=0.002) only in children on valproic acid. For both drugs when serum biochemical parameters were compared between Groups A and B, supplementation resulted in a significant decrease in serum total ALP (P<0.0001) and bone ALP levels (P<0.001), and a significant increase in serum calcium (P<0.0001) and 25-OHvit D levels (P<0.0001) by 90 days of starting treatment., Conclusion: Serum biochemical changes which indicate predisposition to development of rickets or osteomalacia appear within 90 days of starting carbamazepine or valproic acid monotherapy. However simultaneous supplementation with oral calcium and 25-OHvit D is effective in preventing the development of these adverse biochemical changes.

Posterior reversible encephalopathy syndrome is a rare neuroradiologic condition associated with headache, seizures, altered sensorium, visual disturbances, and characteristic lesions on neuroimaging predominantly affecting the posterior regions of the brain. We report a 10-years-8-months-old girl who presented with headache, multiple seizures, and altered sensorium. Her blood pressure was 130/100 mmHg and left brachial pulse was not palpable. CT scan brain showed typical non-enhancing hypodensities in bilateral parieto-occiptal lobes. Prompt treatment of the hypertension led to rapid reversal of neurological symptoms. CT aortogram revealed aortoarteritis with bilateral renal artery stenosis.

Objectives: To investigate parental knowledge of cerebral palsy, and to evaluate the impact of an educational intervention on it., Methods: From May 2003 to April 2004, 26 parents of newly diagnosed children with cerebral palsy were interviewed. After the interview, each parent was administered a structured educational program and re-interviewed after three months. The pre and post intervention responses were compared using Chi-square test., Results: After the intervention, there was a significant improvement in parental knowledge: (i) of the cause of the disorder (5/26 vs 20/26, P = 0.0001), (ii) that it is non-progressive (16/26 vs 24/26, P = 0.021), (iii) that it is not curable (10/26 vs 23/26, P = 0.0005), (iv) that it is treatable (12/26 vs 24/26, P=0.0009), (v) of the frequency and duration of therapy necessary to improve functional abilities (7/26 vs 17/26, P = 0.005), and, (vi) of the importance of following up regularly with a pediatrician (17/26 vs 26/26, P = 0.003). However, there was no significant improvement in parental knowledge: (i) of the meaning of the term 'cerebral palsy' (0/26 vs 5/26, P = 0.060), (ii) that 'early intervention therapy' given by a team of therapists is its recommended therapy (18/26 v 23/26, P = 0.174), (iii) of the meaning of the term 'early intervention therapy' (12/26 vs 17/26, P = 0.163), and (iv) that it is preventable with good medical care (8/26 vs 10/26, P = 0.560)., Conclusion: Parental knowledge of cerebral palsy is inadequate. A single-session educational program can significantly improve parental knowledge about many 'core basic issues' regarding cerebral palsy.

Objective: To document the clinical profile and academic history of children with borderline intellectual functioning ("slow learners"); and to assess parental knowledge and attitudes regarding this condition., Methods: From November 2004 to April 2005, 55 children (35 boys, 20 girls) were diagnosed as slow learners based on current level of academic functioning and global IQ scores (71-84) done by the WISC test. Detailed clinical and academic history; and physical and neurological examination findings were noted. The parents were counseled about the diagnosis and the option of special education., Results: The mean age of slow learners was 11.9 years (+/-SD 2.3, range 8-17). Eighteen (32.7%) children had a significant perinatal history, 15 (27.3%) had delayed walking, 17 (30.9%) had delayed talking, 17 (30.9%) had microcephaly, 34 (61.8%) had presence of soft neurologic signs, and 10 (18.2%) were on complementary and alternative medication therapy. There were no differentiating features between the two gender groups. Their chief academic problems were difficulty in writing (92.7%), overall poor performance in all subjects (89.1%), and difficulty in mathematics (76.4%). Forty-six (83.6%) children had failed in examinations, 34 (61.8%) had experienced grade retention, and 32 (58.2%) had behavior problems. Most parents (83.3%) were reluctant to consider the option of special education., Conclusion: Slow learners struggle to cope up with the academic demands of the regular classroom. They need to be identified at an early age and their parents counseled to understand their academic abilities.

Objective: To assess the impact of the provisions of the Maharashtra government on the academic performance of children with specific learning disability (SpLD) at the Secondary School Certificate (SSC) board examination., Methods: The academic performance of 60 children (45 boys, 15 girls) at the SSC board examination with benefit of chosen provisions was compared with their performance at their last annual school examination before diagnosis of SpLD., Results: There was a significant improvement in their mean percentage (%) total marks scored at the SSC board examination as compared with the mean % total marks scored by them at their last annual school examination before the diagnosis (63.48 +/- 7.86 vs. 40.95 +/- 7.23) [mean +/- SD, mean % difference = 22.53, 95% CI = 19.8 - 25.26, P., Conclusion: Children with SpLD who availed the benefit of provisions showed a significant improvement in their academic performance at the SSC board examination.

Objective: To compare the cognition abilities of children with specific learning disability (SpLD) viz. dyslexia, dysgraphia and dyscalculia with those of non-impaired children., Methods: The study group consisted of 95 newly diagnosed SpLD children (aged 9-14 years) and the control group consisted of 125 non-impaired children (aged 9-14 years). An academic achievement of two years below the actual grade placement on educational assessment with a Curriculum-Based test was considered diagnostic of SpLD. A battery of 13 cognition function tests based on Guilford's Structure of Intellect Model was administered individually on each child in four areas of information viz. figural, symbolic, semantic and behavioral. Mean scores +/- SD obtained in these four areas were calculated in both groups and compared using Independent Samples t-test. A P value < 0.05 was considered significant., Results: Children with SpLD had significantly lower scores (mean +/- SD) in all four areas of information: maximally in the symbolic area (18.66 +/- 4.83 vs. 28.30 +/- 4.29, mean difference 9.64, P < 0.0001, df = 218, 95% CI 8.43-10.86), followed by semantic (18.72 +/- 5.07 vs 27.36 +/- 4.17, mean difference 8.64, P < 0.0001, df = 218, 95% CI 7.40-9.87), figural (17.10 +/- 5.24 vs 25.14 +/- 3.36, mean difference 8.04, P < 0.0001, df = 218, 95% CI 6.89-9.19), and behavioral (5.68 +/- 2.10 vs 7.54 +/- 1.46, mean difference 1.86, P < 0.0001, df = 218, 95% CI 1.39-2.33) areas., Conclusion: Cognition abilities are significantly impaired in children with SpLD.

Education is one of the most important aspects of human resource development. Poor school performance not only results in the child having a low self-esteem, but also causes significant stress to the parents. There are many reasons for children to under perform at school, such as, medical problems, below average intelligence, specific learning disability, attention deficit hyperactivity disorder, emotional problems, poor socio-cultural home environment, psychiatric disorders and even environmental causes. The information provided by the parents, classroom teacher and school counselor about the child's academic difficulties guides the pediatrician to form an initial diagnosis. However, a multidisciplinary evaluation by an ophthalmologist, otolaryngologist, counselor, clinical psychologist, special educator, and child psychiatrist is usually necessary before making the final diagnosis. It is important to find the reason(s) for a child's poor school performance and come up with a treatment plan early so that the child can perform up to full potential.

Objective: To identify factors associated with HIV-infected status in children admitted with tuberculous meningitis (TBM), and to find out whether HIV co-infection affects in-hospital outcome., Methods: This prospective hospital-based study was conducted from May 2000 to August 2003. All consecutive children, aged 1 month to 12 years of age, admitted with a diagnosis of TBM were enrolled. Relationship between 35 features viz., two demographic factors, nine clinical features, 13 neurological features, five laboratory (including cerebrospinal fluid) parameters, six radiological (including computed tomography scan brain) features, and the two outcomes (disabled survivor or death); with HIV-infected status was assessed., Results: Of a total 123 TBM cases enrolled, eight (6.5%) were HIV-infected. There was no significant difference between the two groups, except that more children in the HIV-infected group had Hb < 8 gm/dl: both on bivariate analysis, (OR, 12.0; 95% CI, 2.6-55.9; P = 0.001) and on multivariate analysis (OR, 12.30; 95% CI, 1.9-79.6; P = 0.008). Outcome was similar in both the groups., Conclusion: Only presence of Hb < 8 gm/dl was associated with HIV-infected status. HIV co-infection did not affect the outcome.

Objective: To analyze the patterns of prescriptions and drug dispensing using World Health Organization core drug use indicators and some additional indices., Methods: Data were collected prospectively by scrutinizing the prescriptions written by pediatric resident doctors and by interviewing parents of 500 outpatient children., Results: The average number of drugs per encounter was 2.9 and 73.4% drugs were prescribed by generic name. Majority of drugs prescribed were in the form of syrups (60.8%). Use of antibiotics (39.6% of encounters) was frequent, but injection use (0.2% of encounters) was very low. A high number of drugs prescribed (90.3%) conformed to a model list of essential drugs and were dispensed (76.9%) by the hospital pharmacy. Certain drugs (5.7%) prescribed as syrups were not dispensed, although they were available in tablet form. Most parents (80.8%) knew the correct dosages, but only 18.5% of drugs were adequately labeled. No copy of an essential drugs list was available. The availability of key drugs was 85%., Conclusion: Interventions to rectify over prescription of antibiotics and syrup formulations, inadequate labeling of drugs and lack of access to an essential drugs list are necessary to further improve rational drug use in our facility.

Severe leptospirosis rarely presents with primary pulmonary manifestations, without any associated jaundice or renal dysfunction. The authors report a nine-year-old boy who presented with complaints of abrupt onset of high fever; with myalgia, headache, and pain in right chest region, productive cough with hemoptysis and vomiting developing over the past 72 hours. Chest radiograph showed consolidation in the right upper lobe with air bronchogram. A history of contact with sewage water and presence of conjunctival suffusion in a child with pneumonia made us suspect leptospirosis. Following prompt initiation of parenteral penicillin therapy the child's complaints resolved over the next five days. Dri-Dot test to detect anti-Leptospira antibodies was positive. The diagnosis of leptospirosis was confirmed by a positive microagglutination test to Leptospira interrogans serovar Australis by a fourfold rise in antibody titer in paired sera collected during convalescence. Leptospirosis presenting with pulmonary hemorrhage has been associated with significant mortality but it can be successfully treated with early clinical suspicion of alveolar hemorrhage and prompt therapy.

The authors report a 7-year-8-months-old boy with glutaric aciduria type I who had associated dyslexia, dysgraphia and dyscalculia. The diagnosis of glutaric aciduria type I was confirmed on the basis of characteristic neuroimaging and biochemical findings. Axial T1-weighted magnetic resonance imaging scan of the brain showed fronto-temporal atrophy, open opercula and bat-wing dilatation of the sylvian fissures. Axial T[2]-weighted and FLAIR imaging showed hyperintense signal abnormality in both putamen and in the fronto-parietal deep white matter. Urinary aminoacidogram by thin layer chromatography revealed a generalized aminoaciduria. Urinary organic acid analysis by gas chromatography- mass spectroscopy revealed a marked excretion of glutaric acid. Psychoeducational testing was used to diagnose the learning disability. We postulate that the accumulation of glutaric acid and other metabolites was responsible for the child developing the associated learning disability.

Candida tropicalis is a rare species of Candida causing meningitis. The authors report a young infant who developed Candida tropicalis meningitis following a prolonged stay in a neonatal intensive care unit for respiratory distress and intra-cranial hemorrhage. The child was successfully treated with recommended doses of Amphotericin B and 5-flucytosine for eight weeks.

Objective: To examine the etiological factors, clinical features, treatment modalities and outcome of acute respiratory failure in children., Methods: This hospital-based prospective observational study was conducted over 15 months. Fifty children with acute respiratory failure, diagnosed by serial arterial blood gas analysis, were consecutively enrolled. Ventilation therapy was initiated when the FiO2 requirement went above 0.6., Results: Pulmonary diseases accounted for majority (68%) of cases, followed by nervous system (12%); and cardiovascular and skeletal muscle system diseases (10%, each). Bronchopneumonia was the commonest cause of acute respiratory failure (11 cases). The majority of cases were in the age group 1 month to < 1 year (26 cases). The commonest signs were altered depth and pattern of respiration (100%), chest wall retractions (88%), flaring of alae nasae (88%), tachypnea (84%), tachycardia (82%), and irritability (64%). Cyanosis was noticed in only 26 (52%) cases. Thirty-six (72%) children required ventilation therapy. The overall mortality was 58%. The mortality was high (55.9% to 66.7%), irrespective of the primary system involved. Significantly higher mortality was associated with co-existent malnutrition (p<0.001), Type I failure (p=0.039) and ventilation therapy (p<0.0001)., Conclusion: Acute respiratory failure has varied etiology and clinical manifestations, and a high mortality. Its outcome is independent of age of the child and the primary system involved. Malnutrition and Type I failure are factors associated with a poor outcome.

Objective: There is limited data available on symptomatic leptospirosis in Indian children. We report an outbreak of leptospirosis that occurred in children living in slums following heavy rainfall and flooding. This hospital-based prospective study was conducted from July to August 2001., Methods: Diagnosis of acute leptospirosis was suspected by following the Indian Leptospirosis Society working definition for leptospirosis. Diagnosis was confirmed by detecting anti-Leptospira antibodies, using either a Leptospira genus-specific latex agglutination assay or a dipstick assay or by a macroscopic slide agglutination test., Result: Thirty (32%) out of 93 children admitted had acute leptospirosis. Fever, bodyache, chills, abdominal pain, headache, vomiting, cough, hepatosplenomegaly, edema and crepitations were the common presenting signs and symptoms. Twenty - two children had anicteric leptospirosis and 8 had Weil disease. Response to penicillin treatment was good in all except in one child with Weil disease who died of renal failure within 3 hours of admission., Conclusion: Leptospirosis has emerged as an infectious disease in Mumbai. During monsoon, parents should ensure that their child does not have contact with the contaminated flood water.

Learning disabilities (LD) is one of the important causes of poor academic performance in school going children. Learning disabilities are developmental disorders that usually manifest during the period of normal education. These disabilities create a significant gap between the true potential and day to day performance of an individual. Dyslexia, dysgraphia and dyscalculia denote the problem related to reading, writing and mathematics. Perinatal problems are certain neurological conditions, known to be associated with LD; however, genetic predisposition seems to be the most probable etiological factors. Evaluation of a child suspected to be having LD consists of medical examination, vision and hearing test analysis of school performance. The psycho-behaviour assessment and education testing are essential in the process of diagnosis. The experienced persons in the field of LD should interpret the results of such tests. With Individualized Remedial Education Plan (IEP) most children learn to cope up with disability and may get integrated in a regular steam.