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1.
Eur J Paediatr Neurol ; 20(3): 418-20, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26947545

RESUMO

UNLABELLED: We report a case of a pseudo encephalitis presentation of pediatric intoxication - Case report - a 7 year-old girl was admitted to our pediatric emergency unit after she developed sudden agitation, visual and tactile hallucinations. She was febrile (38.3 °C). She had not experienced any recent head trauma, infection or toxic ingestion; she did not take any medication for ADD. Her physical exam revealed tachycardia, normal pupils, reflexes and normal plantar responses. Laboratory investigations (complete blood count, basic metabolic panel, plasma lactate level, ammonia level) produced normal results. Lumbar puncture and computed tomography of the brain were normal. A serum and urine drug screening (benzodiazepines, barbiturates, cocaine, cannabis, amphetamines, methadone, ethanol) was negative. An electroencephalogram, performed during an episode of hallucinations, was compatible with benzodiazepine intoxication. A larger toxic detection by liquid chromatography/diode array detector (LC-DAD) detected promethazine and its metabolites. Symptoms lasted 20 h and she finally said she drank syrup from an over-the-counter cough suppressant medication. Comments - Anticholinergic syndrome is not well recognized or evoked in children presenting hallucinations. Promethazine is still present in several over-the-counter medications, alone or in combination with acetaminophen, carbocisteine or opiates. CONCLUSION: Medications containing promethazine should not be prescribed in children. Such intoxication can mimic encephalitis.


Assuntos
Antialérgicos/intoxicação , Antitussígenos/intoxicação , Encefalite/induzido quimicamente , Encefalite/diagnóstico , Prometazina/intoxicação , Criança , Feminino , Humanos
2.
Arch Pediatr ; 22(11): 1176-9, 2015 Nov.
Artigo em Francês | MEDLINE | ID: mdl-26385648

RESUMO

Ectopic intrathoracic kidney is a rare congenital anomaly, usually asymptomatic. This anomaly is sometimes associated with a diaphragmatic hernia. Few cases of this combination have been described, often in the absence of a prenatal diagnosis. We report on the case of a female newborn infant who was diagnosed with an ectopic intrathoracic right kidney and a diaphragmatic hernia upon 33 weeks of gestation. The patient underwent surgery on the first day of life and the respiratory and renal outcomes were simple. We review the literature and discuss the seemingly good prognosis of this combination.


Assuntos
Coristoma/diagnóstico , Hérnia Diafragmática/diagnóstico , Rim , Diagnóstico Pré-Natal , Doenças Torácicas/diagnóstico , Feminino , Humanos , Recém-Nascido , Gravidez
3.
Clin Dysmorphol ; 3(3): 255-7, 1994 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-7526938

RESUMO

A 6-year-old girl with del(11)(p14p12) is reported. This girl has the multiple congenital anomalies that defines the WAGR syndrome (aniridia, external genital hypoplasia and severe mental retardation). She has, in addition, very severe obesity (+10 SD) which is not a feature usually described with WAGR association.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 11 , Obesidade , Síndrome WAGR/classificação , Aniridia , Catarata , Criança , Deficiências do Desenvolvimento , Feminino , Humanos , Síndrome WAGR/diagnóstico
4.
Ann Chir ; 46(7): 653-8, 1992.
Artigo em Francês | MEDLINE | ID: mdl-1456700

RESUMO

Primary hyperparathyroidism in children is an extremely rare condition. Slightly more than a hundred cases have been published in children or adolescents aged under 16. Forms with a neonatal presentation, the most rare, should be viewed apart since they rapidly become life-threatening. They involve hyperplasia of the chief cells of the parathyroid glands. Treatment is always surgical and should be rapid, consisting of total parathyroidectomy with autotransplantation. Primary hyperparathyroidism in older children more closely resembles that seen in adults. Sporadic forms are most often due to an adenoma and familial forms, which may occur alone or within the context of a polyendocrine syndrome, are most often due to hyperplasia. Treatment consists of parathyroidectomy, the extent of which depends upon the familial context, visual investigative findings and results of frozen section histology at the time of exploratory cervicotomy. Regardless of the age of the child, family investigation is always required to detect primary hyperparathyroidism occurring in the context of a hereditary disorder.


Assuntos
Hiperparatireoidismo/complicações , Glândulas Paratireoides/patologia , Adolescente , Fatores Etários , Doenças Ósseas Metabólicas/etiologia , Criança , Pré-Escolar , Feminino , Humanos , Hipercalcemia/complicações , Hiperparatireoidismo/genética , Hiperparatireoidismo/cirurgia , Hiperplasia/complicações , Lactente , Recém-Nascido , Cálculos Renais/etiologia , Masculino , Nefrocalcinose/etiologia , Glândulas Paratireoides/transplante , Paratireoidectomia
5.
Med Mal Infect ; 21: 608-609, 1991 Oct.
Artigo em Francês | MEDLINE | ID: mdl-38620191

RESUMO

We report a case of necrotizing enterocolitis in a 30 weeks old premature infant fed with breast milk. No ischemic etiology was present. Bacteriological and parasitological investigations were found to be negative. Only, a positive latex agglutination test for Adenoviruses was detected in stools collected the day of the bloody diarrhea. Detailed microbiological examinations are emphasized by this unusual finding because the role of pathogens in this disease deserves further understanding.

6.
Pediatrie ; 44(8): 649-54, 1989.
Artigo em Francês | MEDLINE | ID: mdl-2622706

RESUMO

Pseudohypoaldosteronism is a congenital disorder, with an as yet unclear pathophysiology, mode of inheritance and frequency. We have recently diagnosed 6 cases in a relatively short period of time, which suggests that the frequency of the disease may be underestimated. This may be due to a high variability in the clinical expression and to the existence of asymptomatic forms. Autosomal dominant and autosomal recessive modes of inheritance have been reported which probably correspond to different underlying mechanisms.


Assuntos
Pseudo-Hipoaldosteronismo/congênito , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pseudo-Hipoaldosteronismo/genética , Erros Inatos do Transporte Tubular Renal
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