Two cases of 9p deletion syndrome and a case of partial trisomy 8 and partial monosomy 9p.

Two cases of 9p deletion syndrome anda case of partial trisomy 8 and partial monosomy 9p: We report 3 girls with mental retardation (MR), distinctive malformations of the skull and facial region, including trigonocephaly, small palpebral fissures, and unusually midface hypoplasia, congenital heart defects which are characteristics of monosomy 9p. We performed GTG banding and fluorescence in situ hybridization (FISH) method in all cases. By using cytogenetic methods, three terminal deletions of the short arm of the chromosome 9 were identified and in 2 patients the deletion was de novo, and one patient inherited deletion. FISH analysis showed 46,XX,del(9)(pter-p22).ish del(9)(pter-->p22) in two patients and 46,XX,-9,+der(9)t(8;9)(q24.3;p22)pat.ish der(9)t(8;9)(q24.3;p22)pat (305J7-T7x1,wcp8+,wcp9+) in the third patient. This report compares the symptoms and features of our patients with previously reported patients with a 9p deletion syndrome.

Does birth weight discordance in preterm twins affect neonatal outcome?

OBJECTIVE: To compare neonatal morbidity and mortality between hospitalized discordant and concordant preterm twin pairs. STUDY DESIGN: This was a retrospective, hospital-based study of preterm twins, followed in neonatal intensive care unit. Twins were classified as discordant when the difference in birth weight was >15%. Morbidity and mortality rates were compared between discordant and concordant groups. RESULTS: Of 136 preterm twins in the study, 54 were discordant and 82 were concordant. In discordant twins hypoglycemia and cesarean delivery rate was higher than concordant pairs. The mortality rate did not differ between concordant and discordant groups. CONCLUSIONS: Hospitalized preterm discordant twin pairs have an increased risk of hypoglycemia compared to concordants. Discordant growth is not a risk factor for prolonged hospitalization and increased mortality.

Comparison of trimethoprim-sulfamethoxazole, cephadroxil and cefprozil as prophylaxis for recurrent urinary tract infections in children.

The aim of this study was to compare the efficacy of prophylactic trimethoprim-sulfamethoxazole (TMP/SMZ), cefprozil and cephadroxil treatments in children who have recurrent urinary tract infection, but no urinary tract pathology. After acute urinary tract infections (UTIs) were treated, the patients were divided into 3 groups randomly and TMP/SMZ was given to 21 patients, cephadroxil was given to 25 patients and cefprozil was given to 34 patients for 3 months--one dose at night. All patients were followed for 6 months following prophylaxis. The frequency of symptomatic UTIs among groups during prophylaxis was not statistically different, however the number of symptomatic UTIs in the cephadroxil group was lower than the other groups. Asymptomatic bacteriuria episodes were detected in TMP/SMZ and cefprozil groups, whereas no asymptomatic bacteriuria episodes were seen in the cephadroxil group. The number of patients with symptomatic UTI during the follow-up period was not different between groups, however all the asymptomatic bacteriuria episodes were encountered in the cefprozil group. In conclusion, in this study cephadroxil was found to be slightly superior to TMP/SMZ and cefprozil in preventing asymptomatic bacteriuria episodes and symptomatic UTIs in children with recurrent UTI and normal urinary tract system.

Pellagra: a sporadic pediatric case with a full triad of symptoms.

Pellagra is clinically manifested by a photosensitive dermatitis, diarrhea, and dementia. The full triad of symptoms is usually not well developed in infants and children. We report a case of a 14-year-old boy with classic symptoms of pellagra. All his symptoms responded to treatment with nicotinic acid.

Reversible nephrotoxicity after overdose of colloidal bismuth subcitrate.

Although toxicity due to acute and chronic use of bismuth salts is well known, nephrotoxicity after ingestion of colloidal bismuth has been reported in few cases so far. Here we report the first case of acute renal failure (ARF) due to colloidal bismuth subcitrate overdosage in childhood. A 2-year-old boy was admitted to the hospital 6 h after ingestion of 28 De-Nol tablets (colloidal bismuth subcitrate 8.4 g). On admission, physical examination was unremarkable and he showed no signs of encephalopathy. Initially gastric lavage was performed then appropriate fluid therapy was started. ARF associated with uremia and oliguria developed on day 2 and peritoneal dialysis therapy was prescribed on day 4 for 10 days. Blood and urine bismuth levels were 739 micrograms/l and 693 micrograms/l, respectively, 10 days after the pills had been taken. His urine volume gradually increased and plasma BUN and creatinine levels decreased during peritoneal dialysis. On day 20 post-admission, plasma BUN and creatinine were 14 mg/dl and 0.7 mg/dl, respectively. Blood bismuth levels were 96 micrograms/l on day 60 and 12 micrograms/l on day 105. Now the patient is well and has no problem. This case suggests that ARF may develop in children following colloidal bismuth subcitrate overdosage; the prognosis is good, and peritoneal dialysis may be useful in these cases.

Effects of high-dose methotrexate on the hemostatic system in childhood acute lymphoblastic leukemia.

BACKGROUND: Thromboembolic and hemorrhagic complications are significant causes of death in patients with malignancy. These are well-known with the use of certain drugs. This study was planned to investigate whether there was any effect of high-dose methotrexate on the hemostatic system in childhood acute lymphoblastic leukemia. PROCEDURE: To evaluate the hemostatic system, we investigated coagulation screening tests (prothrombin time, activated partial thromboplastin time, and fibrinogen), coagulation inhibitors (protein C, protein S, and antithrombin III), and fibrinolytic system (fibrin degradation products and tissue plasminogen activator). These parameters were measured in 35 cycles of high dose-methotrexate (3 g/m(2)) of 20 childhood acute lymphoblastic leukemia cases at baseline and on days 1 and 7 after the therapy. RESULTS: We found that high-dose methotrexate administration adversely affected both the coagulation system (prolonged prothrombin time and activated partial thromboplastin time and decreased fibrinogen levels) and coagulation inhibitors (decreased protein C, protein S, antithrombin III) on day 1 after chemotherapy compared to the baseline values. The hemostatic parameters began to improve on day 7 after chemotherapy, except for fibrin degradation products. Tissue plasminogen activator levels were not changed with the therapy. CONCLUSIONS: Coagulation cascade (prolonged prothrombin time and activated partial thromboplastin time and decreased fibrinogen) and coagulation inhibitors (decreased protein C, protein S, and antithrombin III levels) have been found to be affected by high-dose methotrexate therapy, but these transient changes did not cause clinical thromboembolic or hemorrhagic complications.

A thoracal spinal cord teratoma associated with Taussig-Bing anomaly in a newborn.

BACKGROUND: Teratomas are the most common type of childhood germ cell tumor, arising in both ovary and extragonadal locations. From 40% to 50% of the extragonadal teratomas occur in the sacrococcygeal region. Teratomas in the head, neck, brain, mediastinum, abdominal, and spinal cord locations are seen less frequently. Congenital anomalies are observed up to 26% of the cases with teratoma. METHODS: A 2-day-old newborn was admitted to the hospital because of a mass in the interscapular region. She was evaluated for this and other anomalies. The mass was excised totally, and histopathologic evaluation was done. RESULTS: Histopathologic examination of the mass revealed a mature teratoma. In addition, the child had a Taussig-Bing anomaly of the heart. CONCLUSIONS: This appears to be the first report of the association between congenital thoracic spinal cord teratoma and Taussig-Bing anomaly, a specific type of transposition of the great arteries.

Exchange transfusion treatment in a newborn with phenobarbital intoxication.

A comatose, 14-day-old boy was referred to our emergency department (ED) after an overdose of phenobarbital, which was used for the treatment of long-standing jaundice. Plasma phenobarbital concentration was 112.4 microg/ml before treatment. One hour after giving albium transfusion, an exchange transfusion, which took about 45 minutes, was performed. Volume of exchange was 400 ml (volume of exchange (ml) = 2 x 85 ml/kg). After the exchange transfusion, the phenobarbital concentration decreased to 50.84 microg/ml. At clinical and laboratory follow-up, the patient recovered fully. This case suggests that exchange transfusion is an effective and successful treatment for phenobarbital intoxication in newborn.

Carpenter syndrome: report of two siblings.

Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation. Here we report two affected sibs (IQs were 80 and 93) presenting various cerebrospinal malformations, i.e. frontal lobe deformity, narrowed foramen magnum, hypoplastic posterior fossa, kinked spinal cord, and syrinx cavitation demonstrated by magnetic resonance imaging.

The prevalence of asthma and other allergic diseases in a province of Turkey.

To document the prevalence of asthma and other allergic disorders among children, a questionnaire study involving 3,118 children aged six to 14 years was done. The overall prevalence of allergic diseases was 27.4 percent and the prevalence of each disorder was as follows: rhinitis 11 percent, asthma 10.2 percent, conjunctivitis 7.1 percent, and skin diseases 6.3 percent. Atopic diseases were reported most commonly among the families of children with allergic rhinitis. When compared with internal regions of Turkey, the prevalence of allergic diseases was found to be very high. It was concluded that allergic diseases are an important health problem among children in our region.

Amphotericin B in the treatment of candida meningitis in three neonates.

Candidiasis is an opportunistic infection and may result in significant morbidity and mortality in neonates. Cerebral candidiasis is rare and usually associated with systemic candidiasis. Information concerning the toxicity and efficacy of antifungal therapy for neonates is limited. In this report, we present three neonates with candidiasis. All of the patients were premature with low birth weights, and received antibiotic therapy for one to four weeks before the onset of candidiasis. Candida albicans was isolated from cerebrospinal fluid cultures. Amphotericin B was given administered at an initial dose of 0.25 mg/kg/day intravenously (IV) and increased to a dosage of 2 mg/kg/day, and therapy was continued for three to four weeks. A transient and mild elevation in hepatic enzyme concentration was observed in two patients, and transient thrombocytopenia occurred in all of them.

Application of ice water to the face in initial treatment of supraventricular tachycardia.

Supraventricular tachycardia (SVT) is a life-threatening dysrhythmia in childhood. Initial treatment includes classic vagal maneuvers, some pharmacological agents, cardioversion and application of ice water to the face. In this paper we report our results of ice water application to the face in SVT. The study included ten patients between the ages of seven days and 15 years who were admitted to our hospital with supraventricular tachycardia in the previous year. Ice water was applied to their faces for five seconds immediately and all of them were digitalized. This procedure was utilized in 28 out of 36 SVT attacks, and was found to be effective in restoring sinus rhythm on 27 of 28 occasions (96%). Tachycardia recurred a total of 18 times in three of the ten patients. There was no recurrence in six patients. No response was noted in only one patient. Application of ice water to the face is an easy, safe, effective and repeatable procedure in the initial treatment of supraventricular tachycardia.

Effects of ascaris infection on iron absorption in children.

Twenty-six Ascaris-infected children and 21 control children (10 of whom had iron-deficiency anaemia) were subjected to haematological and oral iron absorption tests. The levels of oral iron absorption by the infected children and by the healthy controls were similar, whereas the level of absorption by the children with iron deficiency anaemia was relatively high. It therefore appears that Ascaris infection does not lead to iron malabsorption and iron deficiency anaemia in children.

A new neurocutaneous syndrome: nevus sebaceus syndrome.

We describe a case of nevus sebaceus syndrome characterized by a linear sebaceous nevus, extending on the left half of the face from forehead to lower neck, including the auricle; alopecia on the temporoparietal region; generalized hypotonia; insufficiency of eyes in following moving objects and insufficiency in controlling the head; lipodermoid cysts in the left and right eyes; bilateral conjunctival masses; corneal vascularization in the right eye; coloboma of the left eyelid and right optic disc. This is a rare case of a sebaceous nevus occurring concomitantly with optical and central nervous system abnormalities.