Abstract:
:Biotin Thiamine responsive Basal Ganglia Disease (BTBGD) is a rare treatable autosomal recessive metabolic disorder caused by mutations in SLC19A3 gene. It usually presents with encephalopathy and dystonia; if not treated, can progress to quadriparesis and death. Two Indian siblings born to a consanguineous marriage presented with regression of milestones, epilepsy and dystonia. Neuroimaging showed signal changes in basal ganglia and thalami. Genetic testing showed a homozygous missense substitution p.Gly23Val (c.68G > T) in exon 2 of the SLC19A3 gene. Thus to conclude, any child who presents with neuroregression, epilepsy and dystonia in the background of basal ganglia changes on neuroimaging, a possibility of biotin thiamine responsive basal ganglia disease should be considered.
journal_name
Indian J Pediatrjournal_title
Indian journal of pediatricsauthors
Gowda VK,Srinivasan VM,Bhat M,Benakappa Ndoi
10.1007/s12098-017-2471-5subject
Has Abstractpub_date
2018-02-01 00:00:00pages
155-157issue
2eissn
0019-5456issn
0973-7693pii
10.1007/s12098-017-2471-5journal_volume
85pub_type
杂志文章abstract::A cohort study at a tertiary care neonatal service was undertaken to determine the neurodevelopmental outcome of neonates who required intensive care. One hundred and nineteen nursery graduates were enrolled for follow up if they fulfilled any of the following risk factors: birth weight less than 1500 g, Apgar score l...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02831347
更新日期:1998-11-01 00:00:00
abstract:OBJECTIVE:To identify the causes and contributing factors of persistent pneumonia in children. METHODS:41 cases with persistent pneumonia were investigated (biochemical, microbiological, histopathological, immunological and radiological tests) to find out the underlying cause. RESULTS:Out of 41 cases, 8 had pulmonary...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0272-1
更新日期:2009-12-01 00:00:00
abstract::Patent ductus arteriosus (PDA) is recognised more often with increasing survival of preterm babies. The pharmacological closure of ductus by indomethacin has changed the management of PDA. Twenty neonates admitted over a period of 21 months to Neonatal Intensive Care Unit (NICU) of M.S. Ramaiah Medical College hospita...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02726122
更新日期:1997-09-01 00:00:00
abstract::Neonatal care has made tremendous improvements in developing countries. However there are number of challenges to be met and neonatal mortality remains unacceptably high. In contrast to this neonatal care in developed nations have moved ahead of a pre-occupation to reducing the neonatal mortality only. The main reason...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-007-0011-4
更新日期:2007-02-01 00:00:00
abstract:OBJECTIVES:Hydrocarbons are a common cause of accidental poisoning in children, with kerosene being the most implicated agent in rural parts of India. However, lately, liquid mosquito repellent ingestion is emerging as an important cause of hydrocarbon (kerosene) poisoning in urban households. METHODS:This is a retros...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-019-03088-y
更新日期:2020-01-01 00:00:00
abstract::During the last eight years a total of nine cases of isolated congenital coronary arteriovenous fistula (CAVF) have been diagnosed at our centre. Age of these patients ranged from 11 days to 22 years (mean 6.4 +/- 4.2 years). There were seven male and two female patients. Right and left coronary arteries were the site...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02762180
更新日期:2000-09-01 00:00:00
abstract:OBJECTIVE:To evaluate the effect of folic acid supplementation on seizure control in folate deficient children receiving long term antiepileptic therapy. METHODS:In a prospective interventional study, 140 children between age group 6 mo to 180 mo fulfilling the inclusion criteria were enrolled in study group, from Oct...
journal_title:Indian journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/s12098-018-2608-1
更新日期:2018-07-01 00:00:00
abstract::Naxos disease (OMIM 601214) characterized by wooly hair, palmoplantar keratoderma and dilated cardiomyopathy in two Indian children of the same family is described. ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02825834
更新日期:2006-04-01 00:00:00
abstract::The care of very-low-birth-weight infants has improved over the years with continuing changes in medical and nutritional management. In view of these changes, there is a need to study the pattern of postnatal weight gain. Postnatal weight gain patterns of 32 very-low-birth-weight infants were examined during the first...
journal_title:Indian journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/BF02845210
更新日期:1997-05-01 00:00:00
abstract::The Integrated Child Development Services (ICDS) scheme is the largest program for promotion of maternal and child health and nutrition not only in India but in the whole world. The scheme was launched in 1975 in pursuance of the National Policy for Children. The scheme has expanded in the last twenty-seven years form...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02722688
更新日期:2002-07-01 00:00:00
abstract:OBJECTIVE:To assess performance of WHO 2006 standards on anthropometric measurements of children referred for growth related disorders to a speciality pediatric clinic in Pune, India, from June 2006 through June 2010. METHODS:Data presented in this study were collected retrospectively from case records of all children...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-012-0687-y
更新日期:2012-07-01 00:00:00
abstract::The authors report 22 patients of Kawasaki disease, diagnosed and treated over a period of 3 years at a tertiary care centre in New Delhi. Ten cases fullfiled the criteria of a "classical" case while 12 cases were "incomplete" cases. Echocardiography was performed in all cases and coronary artery involvement was found...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-010-0356-y
更新日期:2011-04-01 00:00:00
abstract::Fifteen low birth weight premature infants with a diagnosis of PDA were administered 0·2 mg/kg of indomethacin orally, 3 doses at 12 hourly intervals. The results were compared with 18 prematures who were managed by fluid restriction (80-100 ml/kg/day) and decongestive therapy. Nine out of the 15 cases who received in...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02749534
更新日期:1986-07-01 00:00:00
abstract:OBJECTIVE:To compare tympanic membrane temperature and rectal temperature in febrile pediatric patients. METHODS:Sixty febrile children were enrolled as continuous enrollment at initial triage. Two readings of ear temperature were taken in each child with Thermoscan infrared thermometer. Rectal temperature was recorde...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02723215
更新日期:2002-04-01 00:00:00
abstract::A review is presented on the care of three diabetic emergencies: diabetic ketoacidosis (DKA), hypoglycemias and sick days. A treatment scheme, based on low-dose insulin regime and i.v. insulin administration is presented. Plenty of emphasis is laid on fluid and electrolyte therapy. It is stressed that the primary goal...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02776468
更新日期:1989-11-01 00:00:00
abstract::Growth monitoring programs are often considered failures. These failures often stem from a lack of understanding of program implementation. The 10 most common pitfalls of the system are listed as follows: 1) Health workers tend to desire a diagnostic curative approach to malnutrition where Growth Monitoring and Pre...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02810384
更新日期:1988-01-01 00:00:00
abstract::The term aseptic meningitis encompasses all types of inflammations of the brain meninges other than that caused by pus producing organisms. It is usually a benign illness. Etiology of aseptic meningitis is very wide and includes many infections - both viral and non viral, drugs, malignancy and systemic illness. The mo...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02760582
更新日期:2005-01-01 00:00:00
abstract::Kocher-Debre-Semelaigne syndrome is a rare association of muscular pseudohypertrophy and hypothyroidism in children. We report two cases of this syndrome in this communication. The first case was a seven-years-old female who presented with features of hypothyroidism and muscle pseudohypertrophy. The second child had s...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02724260
更新日期:2003-08-01 00:00:00
abstract::Cyanosis is always pathological and demands detailed evaluation. Combined use of clinical findings, electrocardiogram and chest radiograph permits determination of underlying cause in vast majority. Stepwise approach allows hemodynamic classification of the cardiac lesion and directs immediate management. Accurate ana...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-015-1871-7
更新日期:2015-11-01 00:00:00
abstract:OBJECTIVE:To determine the sociodemographic and clinical factors leading to stress among parents whose children are admitted in pediatric intensive care unit (PICU). METHODS:A prospective observational study was conducted in PICU of a tertiary care hospital of north India. Parents of children admitted to PICU for at l...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-014-1415-6
更新日期:2014-11-01 00:00:00
abstract:OBJECTIVE:To study the iron profile and find out an accurate diagnostic tool which reflects iron status in different types of infection in severely malnourished children aged 12 months to 71 months. METHODS:Hundred and Eight (108) children of whom 72 children were infected and 36 non infected severely malnourished chi...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0098-x
更新日期:2009-09-01 00:00:00
abstract::Distinction between true and pseudo trail in lumbo-sacral region is important since treatment and prognosis are different. Fewer than 40 cases have been reported in literature. The authors report a case of true tail in a neonate, a rare event. ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:
更新日期:2005-02-01 00:00:00
abstract::A two-and-a-half-year-old male child presented with recurrent attacks of intractable vomiting, psychomotor retardation since 14 months of age. He had also lower cranial nerve palsy and corticospinal involvement. Magnetic resonance imaging had shown multiple well circumscribed areas of hypointusity in T1 weighted image...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02730822
更新日期:1996-09-01 00:00:00
abstract::Hypertransfusion and regular chelation therapy have allowed improved survival in patients with thalassemia major (TM). Despite medical advances, growth failure and hypogonadism remain significant clinical problems in these patients in adolescence. Disproportionate truncal shortening which is common especially among ad...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02760702
更新日期:2005-02-01 00:00:00
abstract:OBJECTIVE:To evaluate clinical, etiological and EEG profile of neonatal seizures. METHODS:In all the neonates enrolled in the study baseline information recorded was sex, gestational age, weight, ponderal index etc. Clinical profile of seizure episode included age at onset of seizure, type and duration of seizure, ass...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-007-0023-0
更新日期:2007-01-01 00:00:00
abstract::Pulmonary actinomycosis is rarely reported in pediatric age. An 11-year-old girl with history of two-month back pain was admitted to our hospital. On physical examination respiratory sounds were diminished on the left upper lung. Chest radiograph revealed a mass in the left upper lobe. Computed tomography showed solit...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-008-0233-0
更新日期:2009-02-01 00:00:00
abstract::The original Jones Criteria as proposed by Dr. T. Duckett Jones have been modified four times and the updated revised criteria were published in 1992. According to this latest publication major manifestations are carditis, polyarthritis, chorea, erythema marginatum and subcutaneous nodules. Minor manifestations includ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02758174
更新日期:2000-04-01 00:00:00
abstract::Frank-Ter Haar syndrome is an unusual type of skeletal dysplasia with megalocornea and developmental delay. It is usually transmitted as autosomal recessive disorder. Only a few cases have been reported in the literature and none from India. The authors report a case with other unusual features and a short review of t...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-011-0599-2
更新日期:2012-08-01 00:00:00
abstract::A pair of female thoraco-omphalopagus twins, with two pairs of lungs, common diaphragm and separate pleural cavities was separated at the age of 5(1/2) months after a parasitic relationship had developed between them. Before separation both the babies developed recurrent respiratory tract infection and frequent diarrh...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02730669
更新日期:2004-08-01 00:00:00
abstract::Nutrition is a critical determinant of immunocompetence and risk of illness. Young children with protein-energy malnutrition exhibit increased mortality and morbidity, largely due to infectious disease. Recent work has demonstrated that, undernourished individuals have impaired immune responses. The most consistent ab...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02722377
更新日期:1989-09-01 00:00:00