[17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome]. / Duplikacja 17p13.3 jako przyczyna opóznionego rozwoju psychoruchowego u niemowlecia - opis kolejnego przypadku nowego zespolu.

17p13.3 duplication is a rare and heterogeneous genetic syndrome. Microdeletions of this region are responsible for the symptoms of Miller-Dieker syndrome. We present a case of 17p13.3 duplication consisting of about 730kb in a patient with psychomotor developmental delay, concerning eye-hand coordination, posture, locomotion and speech. Among other symptoms, we found excessive physical development in relation to age, hypotonia, dysmorphic facial features (high and prominent forehead, low-set ears, hypertelorism, short nose, small upturned nose, narrow lips and pointed chin) and discrete changes in the CNS - enhanced frontal horns of the lateral ventricles and quite narrow corpus callosum. These symptoms overlap with phenotype of previously described patients with 17p13.3 duplication. The aberration has been identified by array comparative genomic hybridization (aCGH) and confirmed by fluorescence in situ hybridization (FISH). This publication presents a detailed, comparative characteristic of clinical fetures expression in discussed patient with 17p13.3 duplication and patients previously described in medical literature. Further cases with different variants of 17p13.3 duplication may contribute to characterise the specific genotypephenotype correlation.

[Benign acute childhood myositis (BACM)--cases report]. / Lagodne ostre dzieciece zapalenie miesni--opis przypadków.

Benign acute childhood myositis (BACM) is characterised by sudden calf pain and inability to walk. We analyzed the characteristics of seven boys and two girls with BACM treated in the Pediatric Department from April 2005 to March 2009. The mean age at onset of symptoms was 7 +/- 2 years. Two boys were hospitalized twice for BACM. All cases occurred in winter or spring. 7 out of all admissions were clustered together in one week long periods. Patients demonstrated prodromal symptoms of flu-like illness followed by the sudden onset of difficulty in walking. One girl additionally complained of a painful right hip. Four patients received inosine pranobex for prodromal viral infection before the clinical onset of myositis. In all cases, creatine phosphokinase (CPK; the highest value at 8988 U/l) and aspartate aminotransferase (AST; the highest value at 329 U/l) values were elevated. The serum concentration of myoglobin was elevated in five out of six tested patients (the highest value at 2172 microg/l). The following haematological abnormalities were detected: leucocytopenia (the lowest WBC 1.35 x 10(3)/microl), neutropenia, and trombocytopenia. All patients made a rapid recovery within 1 to 5 days. Pediatricians and emergency medicine specialists must be aware that BACM is a self-limiting disorder with the acute onset of inability to walk, elevated CPK and AST levels, and transient haematological abnormalities. There is no sufficient data from clinical reports on immunostimulant use before the onset of BACM.

[Borreliosis in children - clinical manifestation, diagnosis and treatment]. / Borelioza u dzieci -- manifestacja kliniczna, rozpoznawanie i leczenie.

Lyme Disease (Borreliosis) is a multisystem inflammatory disease caused by the spirochete Borrelia burgdorferi, transmitted by the bite of ixodes infected ticks. We would like to present our experience with the treatment of borreliosis in collaboration with the Warsaw Medical Academy's Department of Infectious Disease. Fifty-nine children (aged between 14 months to 16 years) were hospitalized or ambulatory treated due to borreliosis during 5 years between 1997 and 2001. Erythema migrans was observed in 50 cases. The main localisations of erythema were: face, neck and chest. One patient showed erythema in several other localisations. Erythema migrans returned in two cases after therapy with Amoxicillin in one case at 6 months, in the other one 12 months later. The incubation period of erythema migrans in children varied from 4 to 30 days. Seven cases from the 59 occurred with central nervous system manifestations. These were children between 6 and 16 years of age. The most frequent (65.5%) clinical manifestations of the central nervous system were meningitis and facial nerve palsy, depression and headaches were observed in 6% of cases. In one case admission to hospital was the result of leucopaenia (2800/mm3), bradycardia, headache and fatigue. The positive serologic test results (Elisa assay) were confirmed in two independent laboratories. We had one patient (5 years old boy) with arthritic manifestations. The diagnosis of Lyme disease was based on clinical manifestations and positive serologic test results (Elisa assay). In the acute stage Elisa assay was positive in 33% only. The erythema migrans cases received treatment with Amoxicillin for two weeks, whilst patients with neuroborreliosis were treated for 4 weeks with Ceftriaxon.