[Anhydrotic ectodermal dysplasia as cause of recurrent hyperthermia in a 5 month old infant]. / Anhydrotyczna postac dysplazji ektodermalnej jako przyczyna nawracajacej goraczki u pieciomiesiecznego niemowlecia.

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.

[X-linked agammaglobulinemia (XLA) associated with agranulocytosis--case report]. / Agammaglobulinemia sprzezona z chromosomem X z towarzyszaca agranulocytoza--opis przypadku.

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.

[Recombinant erythropoietins--an alternative therapy to red cell blood transfusions in infants with hereditary spherocytosis]. / Zastosowanie erytropoetyny w leczeniu sferocytozy wrodzonej o ciezkim przebiegu klinicznym u niemowlecia--alternatywa dla transfuzji masy erytrocytarnej?

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.

[LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]. / Deficyt lchad (dehydrogenazy 3-hydroksyacylo-CoA dlugolancuchowych kwasów tluszczowych) jako przyczyna naglego zgonu trzymiesie czego niemowlecia.

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.

[Two cases of congenital toxoplasmosis with a central nervous system damage--delayed diagnosis]. / Dlaczego nadal rozpoznajemy toksoplazmoze wrodzona z zajeciem osrodkowego ukladu nerwowego u noworodków? Opis dwoch przypadków.

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.