Leopard syndrome: a report of five cases from one family in two generations.

UNLABELLED: This is the first reported family with Leopard syndrome (LS) from Bosnia and Herzegovina. We report five cases of LS from two generations of the same family. In the present series of patients from one family, all patients carry the same recurrent mutation Y279C in the PTPN11 gene, exhibiting different phenotypes and a variable expression of multiple lentigines. The diagnosis may be on clinical basis as the diagnostic clues of LS are: multiple lentigines and cafè-au-lait-spots, short stature, distinctive face, congenital heart disease, conduction abnormalities, abnormal genitalia, and sensorineural deafness. CONCLUSION: the clinical diagnosis of LS should be molecularly confirmed in the patient.

Penile duplication in newborn with multiple anomalies.

We present a case of male, premature born child with multiple anomalies. The physical status was dominated by penile duplication, with additional, abortion scrotum in the median line, without palpable content and omphalocele with semi septum of the anus. By ultrasound examination of internal organs, we found a complex congenital heart anomaly, multiple anomalies in abdomen and micro calcifications in the central nervous system. General condition of the child required a prolonged mechanical ventilation and intensive care, so with clinical picture of liver failure at the age of 45 days occurred fetal outcome.

Frequency of rh phenotypes in relation to the outcome of pregnancy in the two groups of pregnant women.

Lethal and sublethal genetical factors, including Rh factor, represent endogenous risk factors of the pregnancy outcome. These factors are most frequently inherited in recessive way and they often lead to the negative outcome of pregnancies. They represent pregnancy (a prirori) risk of various degrees. Inheritance of Rh system blood groups is linked to chromosome 1 and it could be explained by two alternative theories; molecular Rh system genetics has not yet been completely explained. The first formal-genetic theory postulates three closely linked gene sites (loci C, D and E) while the second theory has a monogenic character (one locus with several allele genes). Data on 755 pregnancies, which were (for various reasons) estimated as increased risk pregnancies, were registered at Gynaecology Clinic, Clinical Centre of University of Sarajevo, during the period from 1989 to 1992. These data were collected from pregnant women who, according to the certain indications from their familiar and personal anamnesis, demanded genetic consultations. The result of investigation of the basic Rh system phenotype distribution shows no statistically significant difference between monitored pregnant women. This result is assumed as valid for both pregnant women and their partners. The same result is suggesting that the observed increased risk pregnancy samples do not significantly differ from the previously studied population samples. Therefore, it has been concluded that Rh factor is not closely related to the increased risk of individual pregnancy outcomes, that is, it does not have relevant influence on the observed reproduction parameters. This result is very interesting and deserves particular medical attention and further evaluation in the future, particularly considering known immunological phenomena resulting from relations between reproduction partners belonging to the basic Rh system phenotypes.

[Type I Gaucher's disease--a rare genetic metabolic disease]. / Tip I Gaucherove bolesti--rijetke geneticki uvjetovane metabolicke bolesti.

Morbus Gaucher is a rare disease. It occurs once in 40,000 to 65,000 persons in the whole world. This is the most frequent lysosome disease in the clinics. This is the first lysosome disease used in perinatal diagnostics and the first one where enzyme therapy was implemented. Case of gaucher disease morbus type I was found in girl of age 14 in Cantonal hospital "Dr. Irfan Ljubijankic" in Bihac. The clinical investigations were carried out at the same hospital, and samples necessary for the further detailed biochemical analysis were taken together with all other relevant data for this disease. In this case, taking into account rules of distribution of certain genes responsible for transfer of characteristics and processes, and following genealogical series, it could be concluded that parents of our patient are heterozygotes (healthy) and carriers of Gaucher gene, and that 1/4 of their children are dominant homozygotes (healthy), 2/4 are heterozygotes (healthy) and carriers of Gaucher gene, and 1/4 of children, together with the patient, are recessive homozygotes, and carriers of Gaucher gene with expression of the type I of this disease. For therapy of Gaucher disease there are in the market two enzyme. Aglucerosis obtained from human placenta and imiglucerasis obtained from cells of ovarian of hamster. The second preparation is cheaper and it is in wide use. There are no differences in the activity, as well as in creation of antibodies--the enzyme entered in use for the first time in 1989, and since 1991 is in wide use. In Bosnia and Herzegovina, therapy is not possible due to the financial restrictions.