Epidermoid cyst of the testis in a 12-year-old child : case report

Background: Epidermoid cyst is a rare benign tumor of the testis. High-resolution ultrasonography and normal α-fetoproteine level enable to recognize this pathology in order to spare the testis by organpreserving surgery. Case report: We present the case of a 12-year-old boy with painless mass in the slightly enlarged right testis. Ultrasonography revealed typical appearance of epidermoid cyst. Results: Doubtless diagnosis based on ultrasonography and low α-fetoproteine level allowed testissparing surgery instead of orchidectomy. Recognition of this rare tumor is particularly significant for prepuberty boys as it allows maintaining full procreation ability and does not compromise endocrinological functions during adolescence

Congenital epidermolysis bullosa – a case report

Bullous dermatitis in infants is a clinical term used for a number of disorders associated with primary neonatal pemphigus. The disease requires differentiation of autoimmune disorders such as pemphigus vulgaris, pemphigus foliaceus, and bullous pemphigoid. These diseases are the result of pemphigus IgG antibodies that pass from the mother to the fetus through the placenta. The level of antibody titers in the pregnant woman and her clinical condition are not the markers of the severity of the disease in children, but, in case of a high level, a miscarriage premature birth, or even stillbirth, may occur. Staphylococcal syndrome exfoliative dermatitis (staphylococcal scalded skin syndrome - SSSS), the etiological agents of which are type A or B exfoliative toxins of Staphylococcus aureus, is most frequently observed. These toxins can activate as superantigens and cause T-cell activation. They induce proteolysis and separation of the granular layer of epidermis through direct binding of these antigens. Symptoms of the disorder, regardless of the etiologic factors, are common: redness of the skin and formation of bubbles of various sizes filled with serous or serous-bloody content. Bursting bubbles patches peel off, leaving bare, sometimes oozing surface. Extensive damage to the skin is a gateway to infection and disturbs the function of regulating warmth and water-electrolyte balance. Early detection of the cause and appropriate general and local treatment effectively prevent the development of sepsis. The authors present a case of a full-term neonate (male, birthweight 3230 g, good overall condition, 5-min Apgar score: 10) born with dermatitis bullosa of unknown etiology. Physical examination immediately after birth revealed multiple blisters filled with serous and serous-bloody content on the skin all over the neonatal body, mostly in the area of both armpits, elbows, wrists, knees, ankles and fingers of both hands and feet. The course of pregnancy was uncomplicated. However, detailed family history revealed pemphigus skin in the mother (from infancy up to the age of puberty) but the mother was not able to offer details on the diagnosis and treatment of this disease. Symptoms in the mother disappeared after her first menstrual period. Both, typical clinical symptoms presenting in the newborn and maternal pemphigus in the past initially suggested an autoimmune disorder. However, the examination of the levels of IgG antibody and anti-IgA in neonatal serum, as well as tissue examination by the immunofluorescence (IF) method to detect the presence of these antibodies, were negative and consequently the autoimmune disease was excluded. Negative results of bacteriological tests did not confirm the staphylococcal syndrome. It seems that the cause of cutaneous pemphigus observed in the newborn could be an intrauterine infection or hidden, undiagnosed collagen disease in the mother

Intrauterine intestinal volvulus

Summary Intrauterine intestinal volvulus is an extremely rare case of acute congenital intestinal obstruction. The diagnosis is usually possible in the third trimester of a pregnancy. Fetal midgut volvulus is most likely to be recognized by observing a typical clockwise whirlpool sign during color Doppler investigation. Multiple dilated intestinal loops with fluid levels are usually visible during the antenatal ultrasound as well. Physical and radiographic findings in the newborn indicate intestinal obstruction and an emergency surgery is required. The authors describe intrauterine volvulus in 3 female newborns in which surgical treatment was individualized. The decision about primary or delayed anastomosis after resection of the gangrenous part of the small bowel was made at the time of the surgery and depended on the general condition of the newborn, as well as presence or absence of meconium peritonitis. Double loop jejunostomy was performed in case of two newborns, followed by a delayed end-to-end anastomosis. In case of the third newborn, good blood supply of the small intestine after untwisting and 0.25% lignocaine injections into mesentery led to the assumption that the torsion was not complete and ischemia was reversible. In the two cases of incomplete rotation the cecum was sutured to the left abdominal wall to prevent further twisting. The postoperative course was uneventful and oral alimentation caused no problems. Physical development of all these children has been normal (current age: 1-2 years) and the parents have not observed any disorders or problems regarding passage of food through the alimentary canal. Prompt antenatal diagnosis of this surgical emergency and adequate choice of intervention may greatly reduce mortality due to intrauterine volvulus

Cantrell’s pentalogy – a case report

Pentalogy of Cantrell is a rare multiple congenital malformation syndrome characterized by a combination of features: a midline supraumbilical abdominal wall defect, a defect of the lower sternum, a defect of the diaphragmatic pericardium, deficiency of the anterior diaphragm, and congenital cardiac anomalies. This congenital defects could be diagnosed as early as in the first trimester of pregnancy. The complexity of this anomaly, especially coexistent heart defects, determines the way and order of surgical treatment and commonly is a prognostic factor. A case of male newborn with prenatal diagnosed omphalocele and diaphragmatic hernia is reported in the present work. The child was operated within two hours after birth. Intraoperativelly a significant defect of diaphragmatic pericardium and heart surrounded by a small bowel were discovered. The defect of diaphragm was sutured and a drainage of left pericardial cavity was put in place. Afterwards, the abdominal wall defect was sutured after transferring organs into a peritoneal cavity. Six days after the procedure cardiac sonography was performed and it indicated the presence of hemodynamically insignificant congenital intracardiac defect – atrial septal defect. Up-to-date psychomotor development of the boy, currently five months old, is correct. Prenatal diagnosis of the complexity of congenital defects and possibility of fetus condition monitoring allows to plan precisely the time and way of the delivery, as well as to decide the treatment method of the newborn. Due to the absence of hemodynamic disorders and in spite of the present cardiac defect, an early surgical treatment of our patient was possible

The Impact of Growth Hormone Therapy on the Apoptosis Assessment in CD34+ Hematopoietic Cells from Children with Growth Hormone Deficiency

Growth hormone (GH) modulates hematopoietic cell homeostasis and is associated with apoptosis control, but with limited mechanistic insights. Aim of the study was to determine whether GH therapeutic supplementation (GH-TS) could affect apoptosis of CD34+ cells enriched in hematopoietic progenitor cells of GH deficient (GHD) children. CD34+ cells from peripheral blood of 40 GHD children were collected before and in 3rd and 6th month of GH-TS and compared to 60 controls adjusted for bone age, sex, and pubertal development. Next, apoptosis assessment via different molecular techniques was performed. Finally, to comprehensively characterize apoptosis process, global gene expression profile was determined using genome-wide RNA microarray technology. Results showed that GH-TS significantly reduced spontaneous apoptosis in CD34+ cells (p < 0.01) and results obtained using different methods to detect early and late apoptosis in analyzed cells population were consistent. GH-TS was also associated with significant downregulation of several members of TNF-alpha superfamily and other genes associated with apoptosis and stress response. Moreover, the significant overexpression of cyto-protective and cell cycle-associated genes was detected. These findings suggest that recombinant human GH has a direct anti-apoptotic activity in hematopoietic CD34+ cells derived from GHD subjects in course of GH-TS