Chromosomal anomalies and additional sonographic findings in fetuses with open neural tube defects

Objective

To evaluate the results and the necessity of chromosome analysis in fetuses prenatally detected with a neural tube defect and to determine the significance of ultrasonographic evaluation for the identification of underlying or accompanying chromosomal anomalies.

Methods

Ninety fetuses that underwent prenatal and/or postnatal chromosome analysis after being diagnosed with open neural tube defects (NTD) between the years 2006 and 2010 in the Department of Obstetrics and Gynecology at Ondokuz Mayis University School of Medicine were included in this study. Detailed fetal ultrasonography was performed in all cases in order to investigate any additional anomalies. Karyotype was determined in the prenatal period by amniocentesis in 72 (80?%) of the 90 fetuses, and by cordocentesis in 5 (5.5?%). In 13 (13.3?%) fetuses, karyotype was determined in the postnatal period by blood sampling.

Results

Fourteen (15.5?%) of the 90 fetuses were diagnosed with acrania/anencephaly, 14 (15.5?%) with encephalocele, 2 (2.2?%) with iniencephaly, 60 (66.6?%) with open spina bifida. None of the 90 fetuses with open NTD who had undergone chromosome analysis was diagnosed with chromosomal anomalies. None of the 19 (21.1?%) fetuses diagnosed with additional ultrasound findings had a chromosomal abnormality, either. Seventy-one (78.9?%) fetuses having sonograhically isolated NTD were also isolated in postmortem examination.

Conclusion

In fetuses with open NTD, we could not find the chromosomal anomaly rate as high as reported in previous literature. The necessity of fetal karyotyping should be questioned especially in isolated cases.     

Multiple orbital venous malformations presenting with enophthalmos in a patient with presumed blue rubber bleb nevus syndrome

A 27-year-old white woman presented with enophthalmos in the right eye. The visual acuity was 20/20 in both eyes. External examination showed 7 mm of enophthalmos of the right eye with deepened superior palpebral sulcus compared with the left eye. After Valsalva maneuver, the right eye became 4-mm exophthalmic compared with the left eye. Extraocular movements were full. There was no palpable orbital mass or diplopia. MRI showed diffuse enhancing intraconal orbital and nasopharyngeal masses consistent with venous malformations in the right orbit. Systemic evaluation revealed bluish vascular lesions on the hard and soft palates, and the pretibial area of her right leg. These findings were suggestive of blue rubber bleb nevus syndrome. The patient was observed, and her clinical findings remained stable for 12 months. Enophthalmos can be a rare initial presentation of blue rubber bleb nevus syndrome and patients with ophthalmic involvement should undergo systemic evaluation including gastrointestinal, dermatologic, and otorhinolaryngologic examination.     

Congenital muscular torticollis: evaluation and classification

In this investigation of congenital muscular torticollis, 311 infants treated consecutively for congenital torticollis over an 8-year period (1995-2003) at the Pediatric Neurology Clinic of Istanbul Medical Faculty, Istanbul University, Turkey were reviewed retrospectively. The clinical presentation, associated abnormalities, treatment, and outcomes of the overall group and of subgroups divided according to an ultrasonography-based classification were evaluated. All patients were evaluated using a standard approach: cervical ultrasonography was performed, and the patients were divided into two subgroups. Each group was scanned for other anomalies, and outcomes were compared. The mean age at diagnosis was 2.3 months; patients included in this study were 138 males and 173 females. Two clinical subgroups, comprised of sternomastoid tumors 85% and postural torticollis 15%, were identified. Passive range of motion was the initial treatment recommended for all of the patients. Follow-up data were available for all 311 patients; 95% experienced total resolution and 5% experienced subtotal resolution. We conclude that the majority of children with congenital muscular torticollis experience total resolution of symptoms. The success rate of conservative treatment is primarily dependent on the patients' age at the initiation of exercises and ultrasonographic findings.     

Life-threatening intracranial bleeding in a newborn with congenital cytomegalovirus infection: late-onset neonatal hemorrhagic disease

The authors present a case of a 36-day-old infant with intracranial and intramuscular hemorrhage due to vitamin K deficiency bleeding, who received intramuscular vitamin K prophylaxis at birth. In this case, laboratory tests showed anemia, liver dysfunction with cholestasis, and coagulopathy, consistent with vitamin K deficiency abnormality. Serological analyses showed that cytomegalovirus immunoglobulin (Ig)M and IgG avidity were both positive. The infant was treated successfully with intravenous ganciclovir and blood products. This case suggests that it is imperative to meticulously investigate the etiology in neonates with late-onset hemorrhagic disease of the newborn. Cholestatic liver disease caused by congenital cytomegalovirus infection should be in mind in term infants who presented with late-onset hemorrhagic disease.     

The value of echocardiography versus cardiac troponin I levels in the early detection of anthracycline cardiotoxicity in childhood acute leukemia: prospective evaluation of a 7-year-long clinical follow-up

The present study was designed to evaluate the significance of echocardiography versus cardiac troponin I levels in early detection of anthracycline dependent cardiotoxicity in acute lymphoblastic leukemia (ALL) patients. A total of 276 pediatric ALL patients were included in the study prospectively along 3 phases of data collection lasted from 2002 to 2009; including phase I (March 2002 to February 2003; n = 25; 53.3% females), phase II (September 2003 to April 2004; n = 35; 57.1% females), and phase III (January 2005 to June 2009; n = 216; 52.7% females) with respect to cumulative anthracycline doses applied. Anthracycline was administered in accordance with berlin-Franfurt-Munich (BFM)-2000 protocol in doses of 30 to 350 mg/m(2) (in the first phase) and 30 to 240 mg/m(2) (in the following phases). Evaluation of cardiotoxicity was performed via echocardiography and measurement of cardiac troponin I levels. Patients in each phase were homogenous in terms of gender and age. Diastolic dysfunction determined via reduction E/A ratio below the cutoff value was demonstrated to deteriorate earlier than systolic functions and alteration in cardiac enzymes. Being similar between dose groups, cTnI levels were shown to rise in the presence of congestive heart failure. In conclusion, anthracycline cardiotoxicity appears to be detected in an earlier stage by using diastolic parameters compared to systolic parameters and cardiac enzymes.     

Presentation, complications, and treatment outcome of brucellosis in Turkish children

Background:  Brucellosis constitutes a public health problem in Turkey. In endemic Brucella melitensis areas such as Turkey, children represent 20–25% of cases.
Methods:  Hospital records of 90 children with brucellosis admitted during a 9 year period, 1997–2006, were evaluated retrospectively.
Results:  Of 90 patients, 27 (30%) were female and 63 (70%) were male ( P  < 0.05). Patients were aged between 1 and 16 years of age. The mean age was 9.02 ± 3.59 years. Fifty-two patients (57.8%) were from rural areas of Turkey. The mode of transmission was consumption of unpasteurized milk and milk products in 64 patients (71.1%). Parents of 41 patients (45.6%) worked in animal breeding. A positive family history for brucellosis was noted in 14 patients (15.6%). The most frequently involved joint with arthralgia was the knee joint. Arthritis was found in six patients (6.7%), and five of the six had monoarthritis. Serum agglutination test was ≥1/160 in 82 patients (91.1%). The joint symptoms rapidly responded to the treatment and the majority of the patients had significant improvement. The duration of treatment was 6 weeks in 81 patients (90%). Six patients experienced relapse. Four patients presented with complications that included neurobrucellosis, discitis and sclerosis of the hip joint.
Conclusions:  Treatment of childhood brucellosis with co-trimoxazole + rifampicin or doxycycline + rifampicin, according to patient age, is effective and has low relapse rates. Complications and relapse were successfully treated with triple-drug regimens with a low sequelae rate.