RESUMO
The X-linked anhydrotic ectodermal dysplasia is a rare disease in which defects in development of ectodermal derivatives are observed. This syndrome is clinically characterized by total or partial anodontia, characteristic physionomy and absent or reduced sweating. Recurrent fever was a clue to the disease diagnosis in 5 month old infant. The diagnosis was confirmed by the mutation of EDA exon 9.
Assuntos
Displasia Ectodérmica/complicações , Displasia Ectodérmica/diagnóstico , Febre/etiologia , Proteínas de Membrana/genética , Mutação , Anodontia/etiologia , Ectodisplasinas , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Humanos , Lactente , MasculinoRESUMO
In this case study authors presented the clinical characteristics of X-linked agammaglobulinemia (XLA) associated with agranulocytosis diagnosed in a 2-year-old boy. Affected child lacked circulating mature B cells, presented low levels of serum immunoglobulins, but did not suffer from recurrent bacterial infections. XLA is a primary immunodeficiency caused by a defective tyrosine kinase (Btk) in B cells. Our patient and his mother have a mutation in the BTK gene, described as W281X. During therapy with intravenous gammaglobulin, the boy has not experienced agranulocytosis. It is important to consider a primary immunodeficiency diagnosis when a child presents agranulocytosis or neutropenia and a recurrent infectious disease.
Assuntos
Agamaglobulinemia/diagnóstico , Agamaglobulinemia/genética , Agranulocitose/etiologia , Cromossomos Humanos X , Ligação Genética , Proteínas Tirosina Quinases/genética , Tirosina Quinase da Agamaglobulinemia , Agamaglobulinemia/complicações , Agamaglobulinemia/terapia , Agranulocitose/diagnóstico , Pré-Escolar , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Masculino , Mutação , Fatores de Tempo , Resultado do TratamentoRESUMO
OBJECTIVES: The intrauterine toxoplasma gondii infection is linked with a high risk of central nervous system/CNS/damage in the fetus. Why, despite the wide knowledge of this neurodegenerative disease prophylaxis and therapy, do we still meet neonates with the CNS damage? DESIGN, MATERIALS AND METHODS: Authors present two cases of congenital toxoplasmosis with the CNS involvement. RESULTS: One of the cases was identified as the internal hydrocephalus during a prenatal ultrasound examination but no further diagnostics tests were undertaken. The congenital toxoplasmosis and severe CNS damage was diagnosed post delivery. In the other case some clinical symptoms of the CNS infection appeared in the neonatal period. Now this patient is eight months old and presenting mild motor developmental delays. CONCLUSIONS: 1. There are many clinical symptoms of the congenital toxoplasmosis, that can occur in the prenatal/case 1/and postnatal/case 2/period. 2. No serologic tests for toxoplasmosis were performed in mothers during pregnancy, what delays treatment and diagnosis of sick children. 3. Fetus presenting the CNS anomalies identified during ultrasound examinations should be immediately diagnosed.
Assuntos
Complicações Infecciosas na Gravidez/diagnóstico , Diagnóstico Pré-Natal , Toxoplasmose Cerebral/diagnóstico , Toxoplasmose Congênita/diagnóstico , Feminino , Humanos , Recém-Nascido , Masculino , Triagem Neonatal/métodos , Gravidez , Complicações Infecciosas na Gravidez/prevenção & controle , Diagnóstico Pré-Natal/métodos , Fatores de Tempo , Toxoplasmose Cerebral/prevenção & controle , Toxoplasmose Congênita/prevenção & controleRESUMO
Hereditary spherocytosis is the most frequently occurring haemolytic anaemia. Some patients manifest clinical signs during the neonatal period and require transfusion. A case of hereditary spherocytosis in neonate is presented. The use of rhEPO during the first months may be an alternative therapy to red cell transfusion.
Assuntos
Eritropoetina/uso terapêutico , Hemoglobinas/metabolismo , Esferocitose Hereditária/tratamento farmacológico , Transfusão de Eritrócitos , Feminino , Hemoglobinas/efeitos dos fármacos , Humanos , Lactente , Recém-Nascido , Proteínas Recombinantes , Esferocitose Hereditária/sangue , Esferocitose Hereditária/genética , Fatores de Tempo , Resultado do TratamentoRESUMO
LCHAD deficiency is a rare, autosomal recessive congenial defect of fatty acid oxidation. In this disorder high mortality is observed. In some cases patients die during the first episode of this disease, without the diagnosis of LCHAD. We report the case of a three months old boy, whose sudden death was the result of LCHAD deficiency.