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1.
Indian J Pediatr ; 86(7): 608-616, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31177510

RESUMO

When a child is diagnosed with epilepsy, counseling regarding the same is done by the treating doctor. Most parents are frightened and have poor knowledge about epilepsy. Therapeutic advice including drug dosage, administration and side effects takes up the major part of physician's time, thereby neglecting important issues like home seizure management, follow up and others. These lacunae in knowledge require systematic patient and family education. To address these issues, an expert group meeting of pediatric neurologists and epileptologists in India along with social workers/epilepsy educators, legal experts, parents, and teachers was held. The various aspects regarding parental counseling in children with epilepsy were discussed and a consensus document was formulated. Here authors present the group consensus statement on counseling parents and caregivers of children with epilepsy. This document is intended to help physicians and pediatricians counsel the families when a child is diagnosed with epilepsy.

2.
Neurology ; 92(6): e587-e593, 2019 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-30635494

RESUMO

OBJECTIVE: To determine the molecular etiology of disease in 4 individuals from 2 unrelated families who presented with proximal muscle weakness and features suggestive of mitochondrial disease. METHODS: Clinical information and neuroimaging were reviewed. Genome sequencing was performed on affected individuals and biological parents. RESULTS: All affected individuals presented with muscle weakness and difficulty walking. In one family, both children had neonatal respiratory distress while the other family had 2 children with episodic deteriorations. In each family, muscle biopsy demonstrated ragged red fibers. MRI was suggestive of a mitochondrial leukoencephalopathy, with extensive deep cerebral white matter T2 hyperintense signal and selective involvement of the middle blade of the corpus callosum. Through genome sequencing, homozygous GFPT1 missense variants were identified in the affected individuals of each family. The variants detected (p.Arg14Leu and p.Thr151Lys) are absent from population databases and predicted to be damaging by in silico prediction tools. Following the genetic diagnosis, nerve conduction studies were performed and demonstrated a decremental response to repetitive nerve stimulation, confirming the diagnosis of myasthenia. Treatment with pyridostigmine was started in one family with favorable response. CONCLUSIONS: GFPT1 encodes a widely expressed protein that controls the flux of glucose into the hexosamine-biosynthesis pathway that produces precursors for glycosylation of proteins. GFPT1 variants and defects in other enzymes of this pathway have previously been associated with congenital myasthenia. These findings identify leukoencephalopathy as a previously unrecognized phenotype in GFPT1-related disease and suggest that mitochondrial dysfunction could contribute to this disorder.

4.
Int Health ; 10(6): 451-456, 2018 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-29982403

RESUMO

Background: The need for exchange transfusion (ET) as a treatment modality for neonatal hyperbilirubinaemia declined in developed countries with the advent of effective phototherapy. The trends of ET from India are unknown. Our objective was to investigate the trends of ET in India. Methods: Retrospective data (January 2006-December 2016) was collected on total outborn neonatal admissions and ET procedures from a centre in north India. A combination of change-point analysis (CPA) and statistical process control (SPC) was used to investigate the trends of ET. Results: During the study period, a total of 39 217 outborn neonates were admitted and 1575 (4%) underwent 1816 ET procedures. The CPA unravels four critical change points (October 2009, May 2011, September 2011 and November 2014) in ET rates. An SPC chart showed a decline in mean ET rate from 89.3 (upper control limit [UCL] 176.9, lower control limit [LCL] 1.7)/1000 neonatal admissions at the start of the study to 7.7 (UCL 34.6, LCL 0)/1000 at the end of the study. The greatest decline in ET rate was witnessed in October 2009, from 89.3 (UCL 176.9, LCL 1.7)/1000 neonatal admissions to 34.8 (UCL 87.1, LCL 0)/1000 neonatal admissions. Conclusions: Our study demonstrated a progressive decline in the number of neonatal ET procedures over 11 y.

5.
J Trop Pediatr ; 62(4): 338-40, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-26936928

RESUMO

BACKGROUND: Pendred syndrome is a rare autosomal recessive condition, characterized by functional impairment of thyroid gland and sensorineural hearing loss. The syndrome presents in patients with homozygous or compound heterozygous mutation. The presentation in the form of neck mass in a newborn is rare. CASE CHARACTERISTICS: A 1 month old baby presented to us with neck mass, which was found to be an enlarged thyroid gland. Thyroid function tests were consistent with hypothyroidism. Further evaluation revealed moderate sensorineural hearing loss; genetic analysis showed that baby was homozygous for the known mutations causing the disease. INTERVENTION: Thyroid hormone replacement and hearing habilitation were done. Follow up showed regression of the neck mass and normalization of thyroid function tests. Genetic counseling of the family was done. MESSAGE: Identification of the exact cause of congenital hypothyroidism can prevent grave consequences later on for the patient as well as for the family.


Assuntos
Hipotireoidismo Congênito/diagnóstico , Bócio Nodular/diagnóstico , Bócio/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Hipotireoidismo Congênito/genética , Bócio/congênito , Bócio/genética , Bócio Nodular/congênito , Bócio Nodular/genética , Perda Auditiva Neurossensorial/congênito , Perda Auditiva Neurossensorial/genética , Humanos , Recém-Nascido , Mutação , Testes de Função Tireóidea
6.
J Child Neurol ; 30(5): 619-21, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24810088

RESUMO

A 7-year-old boy presented with episodic blindness for the last 2 months with occipital paroxysms and fixation-off sensitivity on electroencephalography (EEG). The clinico-EEG features were suggestive of idiopathic childhood occipital epilepsy of Gastaut. The interesting phenomenon of fixation-off sensitivity is discussed.


Assuntos
Epilepsias Parciais/fisiopatologia , Lobo Occipital/fisiopatologia , Cegueira Cortical/etiologia , Cegueira Cortical/fisiopatologia , Criança , Eletroencefalografia , Epilepsias Parciais/complicações , Humanos , Masculino , Estimulação Luminosa/efeitos adversos
8.
Seizure ; 22(8): 617-21, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23643625

RESUMO

PURPOSE: This study was intended to document the clinical profile and treatment outcome of West syndrome in children attending a tertiary care center in Northern India. METHOD: Data were collected by a retrospective chart review of children diagnosed with West syndrome between January 2008 and January 2012. Information was recorded pertaining to the age at onset and presentation, etiology, and associated co-morbidities; results of electroencephalography (EEG) and neuroimaging; treatment given; and final outcome. The following drugs were used for treatment: pyridoxine, prednisolone, vigabatrin, sodium valproate, nitrazepam, topiramate, and levetiracetam. The response was categorized as spasm cessation, partial improvement (>50% improvement), or no improvement. The final outcome was considered favorable when there was a complete cessation of spasms; with absence of relapse and no progression to other seizure types for at least 6 months. RESULTS: Records of 148 children (120 boys) were analyzed. The mean (SD) age at onset and presentation was 5.3 (4.6) months, and 13.1 (7.3) months, respectively. Perinatal asphyxia (61.4%), neonatal sepsis/meningitis (10.6%), and postnatal meningitis (11.4%) were the predominant causes. The etiology could not be ascertained in 16.6% of children. Favorable outcome was observed in 45 (30.4%) children with spasm cessation rate of 25.4% with prednisolone. Age at onset, gender, time lag to treatment, presence of perinatal asphyxia, or co-morbid cerebral palsy did not affect the final outcome. CONCLUSION: This study highlights the developing country perspective of children with West syndrome, including delayed presentation, adverse perinatal events as the predominant etiology, and modest response to oral steroids.


Assuntos
Anticonvulsivantes/uso terapêutico , Encéfalo/fisiopatologia , Espasmos Infantis/diagnóstico , Espasmos Infantis/tratamento farmacológico , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Índia , Lactente , Masculino , Estudos Retrospectivos , Espasmos Infantis/fisiopatologia , Resultado do Tratamento
9.
J Pediatr Hematol Oncol ; 35(4): e167-70, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23612387

RESUMO

Congenital erythropoietic porphyria is a rare disorder of heme biosynthesis, resulting from decreased enzymatic activity of uroporphyrinogen III synthase. Clinical manifestations are heterogenous, of variable severity, and with occasional phenotypic-genotypic correlation. A 14-month-old boy developed fever, extensive dermatitis, and reddish colored urine. Anemia, erythrodontia, hepatosplenomegaly, and massive urinary elimination of predominantly type I porphyrins was suggestive of congenital erythropoietic porphyria. Although hemolysis remained mild and compensated, facial and digital mutilation developed indicative of moderate clinical phenotype. Mutational analysis revealed compound heterozygosity of mutant alleles, including a novel mutation (p.Pro190Leu). The child received supportive management and underwent facial reconstruction successfully.


Assuntos
Porfiria Eritropoética/diagnóstico , Porfiria Eritropoética/terapia , Humanos , Índia , Lactente , Masculino , Porfiria Eritropoética/genética
10.
Pediatr Neurosurg ; 48(3): 187-90, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23257833

RESUMO

Spinal congenital dermal sinus is a rare entity. Still rarer is its location over the thoracic and cervical spine. Secondary to congenital dermal sinus, intramedullary abscesses of the spinal cord are uncommon. Only few cases of such an association have been reported in the literature. We report such an interesting case of thoracic spinal congenital dermal sinus associated with intramedullary abscess in an 18-month-old boy who presented with a diagnostic conundrum. The pathogenesis, clinical presentation, neuroimaging and management of such cases are discussed. Awareness, detection, timely referral and definitive operative intervention for a better neurological outcome are emphasized.


Assuntos
Abscesso/diagnóstico por imagem , Abscesso/patologia , Espinha Bífida Oculta/diagnóstico por imagem , Espinha Bífida Oculta/patologia , Abscesso/cirurgia , Vértebras Cervicais , Diagnóstico Diferencial , Humanos , Lactente , Masculino , Radiografia , Espinha Bífida Oculta/cirurgia , Vértebras Torácicas
11.
Indian J Endocrinol Metab ; 15(2): 134-6, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21731876

RESUMO

Infantile Gaucher's disease presenting as cor pulmonale is rarely reported in pediatric literature. We report a 3.3 year old boy with infantile Gaucher's disease who presented to us as interstitial lung disease, pulmonary hypertension along with features of cor pulmonale. The high resolution CT findings were typical of interstitial and airspace disease. Cor pulmonale in this patient was a result of severe pulmonary hypertension.

12.
Pediatr Blood Cancer ; 54(1): 151-3, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19785025

RESUMO

Chronic idiopathic myelofibrosis (CIM) with myeloid metaplasia is a myeloproliferative disorder characterized by leukoerythroblastosis, tear drop erythrocytes, extra-medullary hematopoesis (EMH), and varying degree of myelofibrosis. CIM, presenting as refractory ascites secondary to peritoneal hematopoesis, is extremely rare with only six adult cases reported in literature. This is a report of a child with CIM presenting as refractory ascites as a consequence of EMH in the peritoneum. The patient was treated with intermittent hydroxyurea with favorable response over 3 weeks. The patient was thereafter lost to follow up.


Assuntos
Ascite/diagnóstico , Mielofibrose Primária/diagnóstico , Ascite/complicações , Ascite/tratamento farmacológico , Criança , Doença Crônica , Diagnóstico Diferencial , Humanos , Masculino , Mielofibrose Primária/complicações , Mielofibrose Primária/tratamento farmacológico , Recidiva
13.
J Pediatr Hematol Oncol ; 31(3): 200-2, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19262248

RESUMO

Rosai-Dorfman disease (RDD), originally described as sinus histiocytosis with massive lymphadenopathy, is a rare histiocytic proliferative disorder with a distinctive microscopic appearance. Formerly thought to be a disease process limited to lymph nodes, RDD has now been reported in many organ systems like bone, skin and soft tissue, central nervous system, eye and orbit, and upper respiratory tract. Here we report a case of RDD with hepatic involvement, which is even more rare.


Assuntos
Histiocitose Sinusal/complicações , Hepatopatias/etiologia , Doenças Linfáticas/etiologia , Pré-Escolar , Feminino , Histiocitose Sinusal/patologia , Humanos , Linfonodos/patologia , Doenças Linfáticas/patologia , Tomografia Computadorizada por Raios X
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