RESUMO
In two neonate girls with vesicular skin lesions, incontinentia pigmenti (Bloch-Sulzberger syndrome) was diagnosed. This rare X-linked dominant ectodermal disease can cause abnormalities in several organ systems. Most prominent are the dermatological abnormalities, developing in 4 stages: the vesicular stage, the verrucous stage, the hyperpigmentation phase, and the atrophic phase. In addition to the cutaneous manifestations, many patients have anomalies of nails, hair and teeth. Serious related abnormalities of the eyes (intraocular vasculopathy) and central nervous system (convulsions, mental retardation) may occur. In 1989 the locus for the incontinentia pigmenti mutation was shown to be present on Xq28. Recently it was shown that the causative mutation is located on the NEMO ('NF-kappa B essential modulator') gene. A NEMO knock-out mouse model shows a dermatopathy of a transient nature, resembling the skin lesions in patients with incontinentia pigmenti.
Assuntos
Incontinência Pigmentar/diagnóstico , Incontinência Pigmentar/genética , Mutação , NF-kappa B/antagonistas & inibidores , Proteínas Serina-Treonina Quinases/genética , Dermatopatias Vesiculobolhosas/genética , Diagnóstico Diferencial , Feminino , Ligação Genética , Humanos , Quinase I-kappa B , Incontinência Pigmentar/fisiopatologia , Lactente , Recém-Nascido , Unhas Malformadas/genética , Pele/patologia , Anormalidades Dentárias/genética , Cromossomo XRESUMO
We describe a patient with leucocyte adhesion deficiency (LAD). Clinically, the patient had delayed umbilical cord detachment, omphalitis, impaired wound healing and persistent leucocytosis. The patient had the severe form of LAD, with a total absence of leucocyte cell adhesion molecules (LeuCAMs) and undetectable mRNA for the beta chain, the common subunit of the LeuCAMs. In vitro neutrophil chemotaxis, aggregation and oxygen consumption were severely impaired. In vitro incubation of neutrophils with recombinant human interferon-gamma (rIFN-gamma) showed an increase in oxygen consumption, but no effect on the expression of the LeuCAMs, or the beta chain mRNA. In vivo treatment with IFN-gamma was started. The Fc gamma RI receptor appeared on the neutrophils, the LeuCAMs remained undetectable, while the neutrophil functions remained disturbed. The patient died of surgical complications after 10 weeks of rIFN-gamma treatment. No new infections or side-effects due to rIFN-gamma were observed.
Assuntos
Moléculas de Adesão Celular , Interferon gama/uso terapêutico , Leucócitos/fisiologia , Antígenos CD/análise , Moléculas de Adesão Celular/genética , Quimiotaxia de Leucócito , Feminino , Citometria de Fluxo , Fluorescência , Humanos , Lactente , Leucocitose/etiologia , Neutrófilos/fisiologia , RNA Mensageiro/análise , Proteínas Recombinantes , Cordão Umbilical , CicatrizaçãoRESUMO
Despite numerous well-described causes of stroke in infancy and childhood, a significant proportion remains unexplained. Venous thromboembolism is a common complication in adult patients undergoing surgery, and after severe trauma, but not in otherwise healthy children less than 10 years old. However, it may also occur spontaneously without recognizable cause. It has been known for a long time that some patients are particularly prone to venous thrombosis and in recent years great efforts have been made to identify the risk factors. The attention of haematologists has been focused on the possibility that certain abnormalities of coagulation may be associated with a tendency to thrombosis, but only in a few instances a clear causal relationship has been established. One such example is a deficiency of antithrombine III, but such a deficiency has hitherto been recognized as a cause for thrombosis in children only in very particular circumstances. We present two young children with stroke of which one was purely ischemic and the other ischemic with secondary hemorrhage. Both our patients showed an AT III deficiency. Patient one also had a cyanotic congenital heart disease with right to left shunting which made cerebral embolism originating from a thrombus in the iliac vein possible to occur. We consider her hematocrit values too low to be a predisposing factor for this thrombosis. AT III deficiency may be caused by several different mechanisms. Either it exists as a congenital (hereditary) or as an acquired disorder. In patient two the family history was positive for hereditary AT III deficiency.(ABSTRACT TRUNCATED AT 250 WORDS)
Assuntos
Deficiência de Antitrombina III , Embolia e Trombose Intracraniana/etiologia , Transtornos Cerebrovasculares/etiologia , Pré-Escolar , Feminino , Humanos , LactenteRESUMO
A patient with multinodular haemangiomatosis of the liver, rapidly deteriorating in the first weeks of life due to severe progressive congestive heart failure, was successfully treated by hepatic artery catheter embolisation at the age of 6 weeks.
