Nurullah Okumus

Purpura fulminans in a newborn infant with galactosemia

An 11-day-old neonate presented with purpura fulminans and was subsequently diagnosed with galactosemia. Neonatal purpura fulminans occurs predominantly in patients suffering from inherited protein C deficiency or disseminated intravascular coagulation associated with septicemia. Hemostatic changes in patients with liver disease may result in bleeding or, rarely, thrombosis. We suppose that in the present patient, deficiency of protein C, secondary to liver disease, was responsible for the development of purpura fulminans. Treatment consisted of blood and blood products and galactose-free formula. The patient recovered with residual mild psychomotor retardation and the lesions with minimal scarring. In conclusion, galactosemia also should be kept in mind as an uncommon cause of purpura fulminans in newborn infants.

Alendronate for the treatment of hypercalcaemia due to neonatal subcutaneous fat necrosis

Dear Editor, We read with great interest the article by Mitra et al. [3] who described subcutaneous fat necrosis (SCFN) in a preterm infant after severe perinatal hypoxic injury complicated by hypercalcaemia. Mitra et al. [3] state that significant SCFN can develop in both preterm and term infants and preterm infants also develop significant complications including hypercalcaemia. Most patients can be treated successfully by hyperhydration, furosemide, corticosteroids, and also by citrate, calcitonin, and bisphosphonates [4, 5]. Among the bisphosphonates, both etidronate [4] and pamidronate [2] have been used in the treatment of hypercalcaemia due to SCFN of the newborn. However, the use of alendronate for this purpose has not been reported yet, as far as we know. Alendronate as a bisphosphonate is a potent inhibitor of osteoclast-mediated bone resorption. Previously, it has been used safely in patients with hypercalcaemia associated with vitamin D intoxication [1]. Recently, we successfully treated with alendronate sodium a patient with hypercalcaemia associated with SCFN after a severe perinatal asphyxic event. In our patient, the indurated erythematous plaques and nodules appeared on the back, upper arm and gluteal areas by postnatal day 7 (Fig. 1). When the lesions had almost disappeared on postnatal day 30, serum calcium level still reached a peak of 11.5 mg/dL with a urine calcium/urine creatinine ratio of 0.74 mg/mg. Laboratory testing showed serum parathyroid hormone level of 7.5 pg/mL (normal range, 15–65 pg/mL) and serum 25-hydroxyvitamin D level of 38.5 ng/mL (normal range, 10–40 ng/mL). Because of the clear clinical findings, a histopathological examination was not required. Renal ultrasonography showed bilaterally punctiform renal medullary hyperechogenicities. Despite adequate hydration, the patient’s serum calcium level remained high. Because the degree of hypercalcaemia was mild and there was nephrocalcinosis, furosemide treatment was not chosen in our patient. Moreover, corticosteroids were not considered because of their potential side effects. Hence, the bisphosphonate treatment was intended and then, because availability of oral preparation, the patient was given oral alendronate at a dosage of 5 mg/day. Oral alendronate treatment was discontinued on postnatal day 50 when the serum calcium level and urinary calcium/ creatinine ratio had returned to normal. During the alendronate therapy, no side effects were observed. In conclusion, patients with SCFN should be closely monitored for developing metabolic problems like hypercalcaemia. Moreover, alendronate can be used safely and effectively in the treatment of hypercalcaemia associated with SCFN. N. Hakan :M. Aydin (*) :A. Zenciroglu :N. Demirel : N. Okumus :M. S. Ipek Department of Neonatology, Dr. Sami Ulus Maternity and Children’s Hospital, Babur Street, no: 44 (06080) Altindag, Ankara, Turkey e-mail: dr1mustafa@hotmail.com

Lumbocostovertebral syndrome in an infant of a diabetic mother

Congenital lumbar hernia (CLH) is rarely seen in children and the patients with CLH usually have other congenital anomalies. The most common clinical presentation of CLH, previously named lumbocostovertebral syndrome, includes hemivertebrae, absent ribs, and abdominal wall muscle hypoplasia. We report on an infant of a diabetic mother presenting with CLH with other anomalies, and we speculate that this clinical picture fits a developmental field defect associated with maternal diabetes.

Incontinentia Pigmenti With Encephalocele in a Neonate: A Rare Association

Incontinentia pigmenti is a rare, X-linked dominant multisystem genodermatosis affecting ectodermal and mesodermal tissues. After the skin, the central nervous system is the second-most affected system. We report a neonate with incontinentia pigmenti and encephalocele, as a feature of the central nervous system involvement, to stress this uncommon association.

Is phenobarbital a neuroprotective agent in newborn infants with perinatal asphyxia

Their study included 67 term newborns with perinatal asphyxia who were randomized into three groups: supportive treatment; high-dose phenobarbital; or erythropoietin. In their study, longterm neurologic follow up results were better in the phenobarbital group than the erythropoietin group with respect to motor and cognitive functions at 3 and 6 months, and expressive language skills. At 18 months of age, however, the differences between these two groups were insignificant. Therefore, they suggested that high-dose phenobarbital or erythropoietin along with supportive treatment has a positive influence on the outcome of newborns with perinatal asphyxia. 1 There are some controversies, however, about the safety of phenobarbitalevenattheactualdosageusedforneonatalseizures, which is an initial loading dose of 15‐20 mg/kg followed by a maintenance dose of 3‐4 mg/kg per day. 2 It has significant side

SEVERE PURPURA FULMINANS DUE TO COEXISTENCE OF HOMOZYGOUS PROTEIN C DEFICIENCY AND HOMOZYGOUS METHYLENETETRAHYDROFOLATE REDUCTASE MUTATION

Sir, Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in the metabolism of homocysteine. Although there is some controversy about its role in thrombosis, homozygosis 677C-T mutation of MTHFR might be a risk factor for thrombosis [1–3]. Protein C (PC) is a vitamin K-dependent serine protease anticoagulant that plays an essential role in regulating coagulation by degrading activated factors V and VIII in plasma and preventing propagation of thrombosis [4]. A male patient was referred to our hospital on the 16th day of his life with diffuse gangrenous lesion on left thigh extending to knees and patchy lesions on right thigh. Lesions were dark purple, indurated, and demarcated from healthy tissue by a purpuric zone. The remainder of the physical examination was unremarkable. He was born to healthy, 2nd-degree relative parents after the 3rd uncomplicated pregnancy of 30 weeks gestation by cesarian section. The delivery was uneventful and Apgar score was 7/9. His weight was 1680 g and he had no apparent malformations. The patient had two healthy siblings, ages of 3 and 6 years.

Carmi syndrome with congenital heart defects

Carmi Syndrome With Congenital Heart Defects Mustafa Aydin,* Aysegul Zenciroglu, Ayhan Yaman, Utku Arman Orun, Nilufer Arda, Asuman Gurkan Colak, Nurullah Okumus, Mehmet Sah Ipek, and Serdar Ceylaner Department of Neonatology, Dr. Sami Ulus Maternity and Children’s Hospital, Ankara, Turkey Department of Pediatric Cardiology, Dr. Sami Ulus Maternity and Children’s Hospital, Ankara, Turkey Department of Pathology, Dr. Sami Ulus Maternity and Children’s Hospital, Ankara, Turkey Department of Dermatology, Dr. Sami Ulus Maternity and Children’s Hospital, Ankara, Turkey Intergen Genetic Disease Diagnostic Center, Ankara, Turkey

Tibial agenesis and Gollop–Wolfgang complex†

We read the article by Asamoah et al. [2004] reporting ‘‘proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies’’. The author describes a male infant with multiple congenital anomalies including congenital heart defect, renal anomalies, brain malformation, bilateral choanal atresia, malformed lower extremities with joint contractures, femoral bifurcation, bilateral absence of the fibula, bilateral equinovarus deformity with missing 4th toe on the right foot and short second fingers, and chromosome 8q11.23q13.3 deletion. We think that, this case had bilateral absence of the tibia, not fibula and that the diagnosis in the patient is the Gollop–Wolfgang complex, for the following reasons: Roentgenographically, bony hypoplasias, or aplasias are not difficult to detect. In case of unilateral absence of tibia or fibula, comparing with contralateral normal bony structures is helpful for diagnosis. But in case of bilateral aplasia of one of bones, radiological diagnosis can be confusing. In these cases, certain radiological evidence must be kept in mind. When the fibula is absent or hypoplastic, anterior bowing and dysplasia of the tibia almost always occurs [Swischuk, 1997]. In the study of Achterman and Kalamchi [1979], anteromedial bowing of the tibia was seen in 42 of 44 (96%) of complete absence of fibula cases. When the fibula is completely absent, varying degrees of equinovalgus is seen in all feet [Achterman and Kalamchi, 1979]. But in the present case, the feet are in equinovarus position, which is mostly seen in tibial agenesia/hypoplasia. In cases of fibular aplasia, there is also always a tibiotalar articulation with variable degrees of stability [Achterman and Kalamchi, 1979], but not in the present case. Thus roentgenologic findings show that, this case had bilateral absence of tibia. The combination of tibial agenesis with distal femoral bifurcation and ectrodactyly has been designated as ‘‘Gollop–Wolfgang complex’’ (OMIM 228250) [Gollop et al., 1980; Wolfgang, 1984; Kohn et al., 1989]. In conclusion, we suggest that the patient described by Asamoah et al. [2004] had bilateral absence of tibia and can be diagnosed as Gollop–Wolfgang complex. The presence of cleft palate, short neck, micropenis, and undescended testes, renal anomalies, brain malformation, and bilateral choanal atresia allows broadening of the phenotypic spectrum of Gollop– Wolfgang complex and 8q11.2q13 deletion may be related with this syndrome.

1039 Determination of the Perfusion Index Reference Values and Variation in Clinically and Hemodinamically Stable Newborns During the Early Neonatal Period

Background and Aims The perfusion index (PI); is an easy, non-invasive technique for the assessment of peripheral perfusion. The aim of this study was to determine the peripheral PI reference values and PI variability of clinically and hemodynamically stable newborns during the first five days. Method Pre- (right hand) and postductal (foot) PI values were recorded on the sixth hours, first, second, third and fifth day of 241 newborns life with the new generation pulse oximeter [MASIMO Rad 7 Oximeter, USA]. Results A total of 241 newborns (196 term, 45 preterm) were included in the study. The average gestation age of all newborns was 38.4±2.0 weeks and birth weight was 3204±566 grams. According to the analysis of repeated measurements of term and preterm groups within the first 5 days, PI values of right hand and foot did not vary. However, right hand PI values were significantly higher than foot PI values (p<0.001). During the first 3 days, both the right hand and foot PI median values of term newborns were significantly higher than preterm newborns (p<0.001) whereas on the fifth day, difference was disappeared (right hand; p=0.10, foot; p=0.45). Conclusion The peripheral perfusion of stable newborns did not vary significantly during the first five days. It was considered, higher PI value of term newborns compared to preterm newborns, is the result of early adaptation in the microvascular blood flow. PI values obtained from stable newborns may be guiding for further studies planned on various diseases associated with impaired perfusion.

1146 Perfusion Index Variability and N-Terminal Pro-Brain Natriuretic Peptide Levels Before and After Cardiac Interventions in Congenital Heart Disease

Background and Aims Congenital heart diseases (CHD) are the most common life-threatening anomalies with significant morbidity and mortality in newborns. The aim of this study was to evaluate perfusion index variability (PI) and pro-Brain Natriuretic Peptide (NT-proBNP) levels before and after cardiac interventions. Methods A prospective study was performed on hospitalized newborns diagnosed with CHD. Oxygen saturation (SaO2), PI, heart rate and serum NT-proBNP levels were obtained before and 6th hour after cardiac interventions (catheterization or surgery) in all patients, by using Masimo Rainbow SET Radica l7 Monitor (Masimo Corp., Irvine, CA, USA). Duration of mechanical ventilation, morbidity and mortality rates were documented. Results Thirty-four CHD diagnosed newborns were included. Pulmonary atresia (20.6%), aortic coarctation (14.7%), and transposition of great arteries (11.82%) are the most common diagnoses. Median (IQR) birth weight and gestational age were 3250g (2450–4300) and 38weeks (38–42) respectively. Fifty-eight percent of newborns were male. Rapidly rising of oxygen saturations and PI values after cardiac interventions were observed in all patients (SaO2 %, before: 79±6.6, after: 87.9±2.9, p=0.001) (PI before: 0.4±0.1, after: 1.1±0.2, p=0.001). A significant decrease in NT-proBNP levels (pg/mL) were seen after therapeutic interventions too(before: 1547±629, after: 911±262, p=0.001). Six patients (17.6%) required surgical intervention. The median (IQR) day of mechanical ventilation was 7days (2–21). Proven sepsis (n=8.23%), chronic lung disease (n=5.14%), pulmonary hemorrhage (n=4,%11), and pneumothorax(n=3.8%) are the most detected complications. Mortality rate was 20% (n=5). Conclusion Peripheral tissues are sensitive to alterations in perfusion. PI monitoring of these tissues could be an early marker of hypoperfusion. PI has significantly improved in correlation with SpO2 after therapeutic interventions. Assessment of PI and NT-proBNP values could be used by monitoring peripheral tissues in critically ill newborns with CHD.