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Background Congenital cytomegalovirus (cCMV) infection of the central nervous system (CNS) can cause ventriculomegaly, gliosis, calcifications and cortical defects. Detection of CMV DNA in cerebrospinal fluid by PCR (CSF-CMV-PCR) is a marker of CNS involvement. Objective To evaluate a diagnostic value of the positive CSF-CMV-PCR in cCMV. Methods Analysis of clinical, laboratory, neuroimaging and single-nucleotide polymorphisms (SNPs) data according to the results of CSF-CMV-PCR were performed in infants with cCMV. Results A total of 168 infants were included; 145 (86.3%) had negative and 23 (13.7%) had positive CSF-CMV-PCR results. Associations between the positive CSF-CMV-PCR results and prematurity (odds ratio [OR] = 3.24; 95% confidence interval [CI]: 1.30-8.07), microcephaly (OR = 5.67; 95% CI: 2.08-15.41), seizures (OR = 4.15; 95% CI: 1.10-15.67), sensorineural hearing loss (OR = 6.6; 95% CI: 2.49-17.46), splenomegaly (OR = 8.13; 95% CI: 3.12-21.16), hepatitis (OR = 10.51; 95% CI: 3.31-33.35), petechiae (OR = 10.21; 95% CI: 3.78-27.57) and heterozygous T/C genotype at TLR4rs4986791 (OR = 7.88; 95% CI: 1.55-40.12) were observed. When using a multivariate logistic regression analysis, only the presence of severe sensorineural hearing loss (OR = 7.18; 95% CI: 1.75-29.34, P = 0.006), cystic lesions on MRI (OR 5.29; 95% CI: 1.31-21.36, P = 0.02), and calcifications on MRI (OR = 7.19; 95% CI: 1.67-30.97, P = 0.008) remained as the significant independent predictors of the positive CSF-CMV-PCR results. Conclusions The detection of CMV DNA in CSF is associated with a higher rate of CNS damage including abnormal MRI neuroimaging and severe hearing loss. Therefore, detection of CMV DNA in CSF may be considered as a marker of severe CNS injury in cCMV infection. However, the very low prevalence of the positive CSF-CMV-PCR results, even in infants with proven CNS involvement, may imply its limited role in clinical practice.

Vitamin K deficiency bleeding (VKDB) is a rare and potentially life-threatening disorder. Infants suffering from cholestasis constitute a risk group of vitamin K deficiency due to intestinal malabsorption defects. The paper presents a case of late-onset VKDB as a result of biliary atresia in an infant.

Beckwith-Wiedemann syndrome is an overgrowth syndrome complicated both phenotypically and genetically. The aim of the study is to present a few cases of newborn babies with B-W syndrome in order to let especially neonatologists and pediatricians follow the diagnostic process. It may make it easier for them to suggest the diagnosis of this syndrome. According to an increased risk for embryonal tumor development, the prophylaxis needs to be taken as well. Children with B-W syndrome need a multi-specialty care.

Familial hypercholesterolemia (FH) is a genetic disease that causes accelerated atherosclerosis and a high risk of occurrence of cardiovascular events. Atherosclerosis in the course of FH develops insidiously and reaches an advanced stage before the onset of clinical symptoms. Homozygous form of FH occurs in the Caucasian population with a frequency of one per million, while the heterozygous form of FH in European countries applies on average in 1 person per 500. FH diagnosis is an indication to take the whole family under medical care, education, and to introduce dietary and pharmacological treatment. The aim of treatment in children with FH is to achieve more than 50% reduction in LDL level or to achieve LDL-cholesterol concentrations below 130 mg/dl and below 100 mg/dl in diabetic children. The effectiveness of low fat diet in the treatment of FH is limited. The medicaments of first choice in the treatment of FH are statins. After initiation of therapy in children, cholesterol levels and the side effects of therapy and its impact on children's development, nutritional status, degree of sexual maturity should be routinely evaluated. Familial hypercholesterolemia is a relatively common metabolic disorder, but still quite rarely recognized and not properly treated. Early diagnosis and appropriate treatment of FH in children and adolescents can significantly reduce the risk of cardiovascular disease and sudden death in adults. The purpose of these recommendations is to describe the current epidemiological situation in Poland, to establish the guidelines for identifying FH in children and adolescents and to enable the introduction of effective treatment. This document is a supplement to the position of Lipid Expert Forum on FH in adults.

Tetraploidy is a condition in which there are four complete sets of chromosomes in a single cell. In humans, this would be 92 pairs of chromosomes per cell. A great majority of pregnancies with a tetraploid fetus end in miscarriage, or if the pregnancy goes to full term, the infant dies shortly after birth. Longer surveillance is rarely described. The only method for confirming tetraploidy is karyotyping, in many cases using classical G-banding methods. In this paper we would like to present another living individual with tetraploidy and to revise the syndrome in the light of its diagnostics in the era of molecular karyotyping, with array Comparative Genomic Hybridization (aCGH, arrayCGH).

Recent updates of the European, American and Polish nutritional recommendations require updates of the nutritional norm for children. We present the Polish Expert Group statement (2012) on the intake of selected nutrients (proteins, lipids, carbohydrates, vitamin D and E) essential for nutrition in children aged 1–3 years. For this purpose the Expert Group reviewed available scientific data consisting of the recent guidelines, nutritional norms and recommendations, systematic reviews and expert opinions as well as original publications, in relation to the specific requirements for the Polish population.

Recent updates of the European, American and Polish nutritional recommendations require updates of the nutritional norm for children. We present the Polish Expert Group statement (2012) on the intake of selected nutrients (proteins, lipids, carbohydrates, vitamin D and E) essential for nutrition in children aged 1–3 years. For this purpose the Expert Group reviewed available scientific data consisting of the recent guidelines, nutritional norms and recommendations, systematic reviews and expert opinions as well as original publications, in relation to the specific requirements for the Polish population.

Streszczenie Stosowanie antybiotykow związane jest z mozliwością wystąpienia biegunki. Jej przebieg moze byc rozny: od najcześciej wystepującej, lagodnej i samoograniczającej sie biegunki, poprzez zapalenie jelit i/lub okreznicy, do najciezszej postaci, jaką jest rzekomobloniaste zapalenie jelita grubego. Biegunka związana z antybiotykoterapią najcześciej wystepuje po amoksycylinie, amoksycylinie z kwasem klawulanowym oraz cefuroksymie. W leczeniu biegunki związanej z antybiotykoterapią zasadniczym elementem jest odstawienie antybiotyku, a w przypadku rzekomobloniastego zapalenia jelit zastosowanie metronidazolu lub wankomycyny. W profilaktyce biegunki związanej z antybiotykoterapią zastosowanie mogą miec probiotyki o udokumentowanym dzialaniu.

Czlonkowie grupy roboczej:dr n. med. Piotr Albrechtprof. dr hab. Ewa Bernatowskaprof. dr hab. Anna Dobrzanskadr n. med. Pawel Grzesiowskiprof. dr hab. Waleria Hryniewiczdr n. med. Ryszard Koniordr n. med. Marian Patrzalekprof. dr hab. Andrzej Radzikowskidr n. med. Leszek Szenbornprof. dr hab. Jacek Wysocki

We present the young infant with the extremely rare brain abnormality–brainstem disconnection. Additionally, several extracerebral abnormalities were diagnosed: bilateral anotia, micrognatia, hypertelorism, scoliosis, ribs and vertebral anomalies. MR brain examination precisely demonstrated absence of the pons, with disruption between midbrain and hypoplastic medulla oblongata. The thin strands connecting the medulla with the midbrain and medulla with both cerebellar hemispheres were revealed. The large hamartoma of the tuber cinereum was found. In this study we review case reports published previously.

We describe the clinical characteristics of two patients with cat-eye syndrome (CES, MIM #115470) resulting from a supernumerary marker chromosome that includes 22pter-q12.3. They both presented a constellation of features typical of CES, including coloboma, auricular malformations, heart and renal anomalies, as well as hepatic dysfunction, which led to severe effects. In one case Pierre Robin sequence was diagnosed which has not been described earlier in this trisomy. Although CES is a well known, but infrequently diagnosed disorder, we draw attention both to its clinical overlaps with other disorders and, in view of the clinical variability being identified within the 22q11 region, to the importance of careful molecular examination of proximal 22q in patients with suggestive clinical signs.

Streszczenie Kwasy tluszczowe omega-3 są niezbedne do zachowania funkcji organizmu czlowieka w kazdym wieku. Szczegolne zapotrzebowanie na te skladniki odzywcze wystepuje w okresie ciązy, laktacji oraz okresie niemowlecym i wczesnego dziecinstwa, a wyjątkową role przypisuje sie kwasowi dokozaheksaenowemu (DHA). Normy spozycia określają zapotrzebowanie na kwasy tluszczowe omega-3, jednak istotne jest zdefiniowanie potencjalnych korzyści suplementacji i oszacowanie skutecznych i bezpiecznych dawek oraz formy spozycia. Zapewnienie prawidlowej zawartości w diecie i dostepności omega-3 dla organizmu podczas QID wplywa korzystnie na czas trwania ciązy i mase plodu; niejednoznaczne są wyniki dotyczące wplywu na rozwoj psychomotoryczny i ostrośc widzenia niemowląt oraz obnizenie ryzyka wystąpienia depresji poporodowej. Suplementacja kobiet karmiących wplywa na zawartośc DRA w pokarmie kobiecym, nie ustalono jednak wplywu takiego postepowania na rozwoj niemowlecia. Minimalne zapotrzebowanie na DHA w ciązy i podczas laktacji wynosi 200 mg/dobe. W przypadku niskiego spozycia ryb sugerowana jest suplementacja DHA w dawkach dobowych 2–3 razy wiekszych od dawki minimalnej. Suplementacja mleka modyfikowanego dla niemowląt kwasami omega-3 podlega osobnym regulacjom. Wyzsza zawartośc DHA (ok. 0,3% wszystkich kwasow tluszczowych) jest związana z korzystnym wplywem na rozwoj ostrości widzenia. Sugeruje sie suplementacje DHA diety malych dzieci w przypadku niskiego spozycia ryb w dawkach okolo lsof100 mg/dobe. Nieliczne badania przeprowadzone w tej grupie wiekowej nie pozwalają na jednoznaczne wskazanie korzyści, sugerowane jest zmniejszenie czestości infekcji. Zwraca sie uwage na niebezpieczenstwo stalego spozycia niektorych ryb morskich przez kobiety ciezarne, karmiące, niemowleta oraz male dzieci ze wzgledu na obecne w tych rybach zanieczyszczenia.