A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION.

GRACILE Syndrome, is an autosomal recessive disease presenting with growth retardation, severe lactic acidosis, Fanconi type tubulopathy, cholestasis, iron overload and early death without any dysmorphological or neurological features. The BCSIL gene mutation is responsible for GRACILE syndrome, Bjornstad syndrome and complex III deficiency. Bjomstad syndrome is characterized by sensorineural hearing loss and abnormal flat twisted hair shafts. The case is GRACILE syndrome with Bjomstad phenotype in neonatal period due to BCSL1 gene mutation.

Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect.

Crigler-Najjar syndrome (CNS), caused by deficiency of bilirubin uridine diphosphate glucuronosyltransferase (UGT) 1A1, is a rare and autosomal recessive inherited disorder characterized by severe unconjugated nonhemolytic hyperbilirubinemia since birth. We present a girl with CNS type I caused by a novel mutation and Gilbert type genetic defect. Gilbert's Syndrome (GS) and CNS type I both involve abnormalities in bilirubin conjugation secondary to deficiency of bilirubin UGT. The combined defects even in benign genetic forms were shown to cause more serious clinical disease. The patient has been treated with daily home-based phototherapy for more than nine months and considered as a candidate for liver transplantation.

Evaluation of treatment with hydrocortisone on oxidant/antioxidant system in preterm infants with BPD.

AIM: Evidence that oxidative stress plays a role in the development of bronchopulmonary dysplasia (BPD). There is a close relationship between oxidative stress and inflammation. In this study, it is aimed to investigate influences of hydrocortisone used in the treatment of BPD on anti-oxidant system in preterm infants with BPD. PATIENTS AND METHODS: The study enrolled 33 infants with severe BPD who were undergone inpatient treatment in neonatal intensive care unit (NICU) of our Hospital and received therapy with hydrocortisone. Total oxidant status (TOS) and total anti-oxidant capacity (TAC) levels of infants enrolled to the study before and one week after the hydrocortisone therapy were studies and oxidative stress index levels were calculated. Pre- and post-treatment TOS, TAC and OSI index levels were statistically compared. RESULTS: In preterm infants with BPD, who were enrolled into the study, TOS and OSI index were found high, whereas TAC values were low. Following the treatment with hydrocortisone, statistically significant decrease in TOS and OSI index and statistically significant elevation in TAC levels were found in comparison with pre-treatment levels. CONCLUSIONS: The treatment with hydrocortisone, which is used for BPD, improves anti-oxidant system and reduces oxidative stress in infants with BPD. There is need for further studies in order to clarify the physio-pathogenesis.

The effects of water birth on neonatal outcomes: a five-year result of a referral tertiary centre.

OBJECTIVE: As scant information is present about the effect of water birth on newborns, we aimed to detect the fetal outcomes of water birth. MATERIALS AND METHODS: A hundred and ninety one among totally 220 newborns who were born by water birth were enrolled. The demographic and clinical features of the patients, birth complications, infection rates and rates of neonatal intensive care unit attendance were evaluated. RESULTS: The mean gestational week and birth weight were 39.2±1.3 weeks and 3326±409 g. 26% of the mothers was primiparous. Birth trauma was observed in three patients (1.6%) as one brachial nerve paralysis, one cord rupture and one cephal hematoma. Six of the patients (3.1%) were admitted to neonatal intensive care unit (NICU); four of whom had respiratory tract problems. CONCLUSIONS: Water birth is a safe method of delivery for the neonates when certain criteria are met.  

Compassionate use of voriconazole in newborn infants diagnosed with severe invasive fungal sepsis.

BACKGROUND: Invasive fungal sepsis has become the third most common cause of late-onset infections in many neonatal intensive care units (NICU). The prevalence rate ranges from 2.6% to 16.7% among very-low-birth-weight infants and from 5.5% to 20% among extremely low-birth-weight infants. Despite the development of several new antifungal agents in the past few years, the management of serious fungal infections in the newborn continues to be problematic. MATERIALS, METHODS AND RESULTS: Voriconazole treatment was given to 17 newborns with invasive fungal sepsis, in initial doses of 2-3 mg/kg twice daily. In spite of the complications of cholestasis and liver function abnormality in 2, the dose regimen was 4-6 mg/kg (loading dose), followed by initial doses of 2-3 mg/kg twice daily. Drug cessation did not occur, and no permanent side effects were observed. In the end, 12 patients had been cured with antifungal treatment. CONCLUSIONS: Voriconazole at this dosage common with other antifungal agents or alone appears to be a safe and effective antifungal agent for neonatal invasive fungal sepsis. Based on relevant literature, to the best of our knowledge, ours is the largest case series to underline this issue. However, further studies are required to determine the pharmacokinetics (e.g. serum half-life, concentration, time of peak concentration, and distribution) of voriconazole use in newborns.  

Neutrophil volume, conductivity and scatter parameters with effective modeling of molecular activity statistical program gives better results in neonatal sepsis.

INTRODUCTION: Neonatal sepsis remains an important clinical syndrome despite advances in neonatology. Current hematology analyzers can determine cell volume (V), conductivity for internal composition of cell (C) and light scatter for cytoplasmic granularity and nuclear structure (S), and standard deviations which are effective in the diagnosis of sepsis. Statistical models can be used to strengthen the diagnosis. Effective modeling of molecular activity (EMMA) uses combinatorial algorithm of the selection parameters for regression equation based on modified stepwise procedure. It allows obtaining different regression models with different combinations of parameters. METHODS: We investigated these parameters in screening of neonatal sepsis. We used LH780 hematological analyzer (Beckman Coulter, Fullerton, CA, USA). We combined these parameters with interleukin-6 (IL-6) and C-reactive protein (CRP) and developed models by EMMA. RESULTS: A total of 304 newborns, 76 proven sepsis, 130 clinical sepsis and 98 controls, were enrolled in the study. Mean neutrophil volume (MNV) and volume distribution width (VDW) were higher in both proven and clinical sepsis groups. We developed three models using MNV, VDW, IL-6, and CRP. These models gave more sensitivity and specificity than the usage of each marker alone. CONCLUSIONS: We suggest to use the combination of MNV and VDW with markers such as CRP and IL-6, and use diagnostic models created by EMMA.

Urgent surgical management of a prenatally diagnosed midgut volvulus with malrotation.

Midgut volvulus is a life-threatening condition that commonly presents during the first year of life rarely antenatally. Here we report successful urgent surgical management of an unusual case with malrotation exhibiting the sonographic findings of volvulus in utero that leads to premature birth. This 34-wk, 2700 g infant was born via spontaneous vaginal delivery. Prenatal ultrasound showed polyhydramnios and 30 x 40 mm cystic lesion showing whirlpool sign in abdomen that made us think midgut volvulus. The patient had distended abdomen with skin discoloration. An emergency surgical management was performed showing malrotation, volvulus and a 15 cm ischemic necrotic region of terminal ileum.

Severe semilobar holoprosencephaly and lissencephaly associated with cebocephaly in a newborn.

Holoprosencephaly is frequently accompanied by midline facial abnormalities such as hypotelorism, cyclopia, etmocephaly and cebocephaly. Cebocephaly is a very rare congenital anomaly combining with semilobar holoprosencephaly. Chromosomal analysis shows normal karyotyping. Lissencephaly and holoprosencephaly are rare associations, that have not been reported yet with cebocephaly. Herein we present the first case of cebocephaly with severe semilobar holoprosencephaly and lissencephaly.

A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome.

Ritscher-Schinzel also known as cranio-cerebello-cardiac (3C) syndrome is a very rare clinical entity. The striking features of this syndrome are cerebellar, cardiac and craniofacial abnormalities. Life threatening features of this syndrome are generally associated with cardiac abnormalities. We here present prolonged respiratory problems due to pulmonary hypertension in a preterm baby with Ritscher-Schinzel syndrome.

Congenital mirror hand deformity.

Ulnar dimelia or commonly called mirror hand is a rare congenital anomaly of upper extremity characterized by duplication of ulna, absence of the radius with symmetrical polydactyly. This anomaly may be associated with shoulder dislocation, fibular dimelia, idiopathic scoliosis, cirrhosis, pyloric hypertrophy or polycystic kidney. We report a new case of this rare congenital anomaly which was not associated with any other malformation.

The acute-phase response in differentiating sepsis from inflammation in neonates who require abdominal surgery.

INTRODUCTION: In neonates, the influence of surgery on the inflammatory response has not been fully characterized and it remains difficult to differentiate an inflammatory response from sepsis. In this study, we evaluated changes in interleukin-6 (IL-6) and C-reactive protein (CRP) in neonates undergoing different major abdominal surgeries who had a normal postoperative course without infection. MATERIAL AND METHODS: In total, 43 neonates undergoing major abdominal surgery owing to congenital malformations involving the gastrointestinal tract, and who did not show blood culture positivity were enrolled in the study. As a control group, 40 neonates with proven sepsis were enrolled in the study over the same period. Blood samples for IL-6, CRP, and white blood cell count (WBC) determination were drawn before surgery and 48, 96, and 144 h [postoperative days (POD) 2,4, and 6] after surgery. RESULTS: There was a statistically significant increase in IL-6 concentrations on POD 2 compared with preoperative levels (p < 0.05). After POD 2, IL-6 levels decreased to preoperative levels. There was a statistically significant increase in CRP concentrations on POD 2, 4, and 6 (p < 0.05). Levels of CRP tended to be higher after surgery, and began to fall by the 6th day, but were still statistically higher than preoperative levels. In the sepsis group, CRP concentrations on day 6 were lower than in the surgery group (p < 0.05). White blood cell counts did not show statistically significant differences preoperatively versus postoperatively. CONCLUSIONS: In contrast to previous studies, our results show high levels of IL-6 on POD 2 and CRP on POD 6. It is important to differentiate between the diagnoses of sepsis and postoperative inflammation, because of the need to treat the infection. High levels of IL-6 and CRP are not always associated with sepsis after major abdominal surgeries, but may instead be associated with the inflammatory response and multiorgan dysfunction. Further studies are needed to better differentiate sepsis from inflammatory responses in patients undergoing other surgeries.

Transfusion-associated necrotising enterocolitis in very low birth weight premature infants.

OBJECTIVE: Our aim was to determine the relationship between red blood cell transfusion and necrotising enterocolitis (NEC) in all admitted very low birth weight (VLBW) infants with or without transfusion. STUDY DESIGN: All VLBW neonates were categorised into five groups: (i) subjects that developed NEC <48 h after transfusion (n = 15); (ii) subjects that developed NEC >48 h after transfusion (n = 31); (iii) subjects that were never transfused but developed NEC, (n = 50); (iv) subjects that were transfused but did not develop NEC, (n = 250) and (v) subjects that were neither transfused nor developed NEC (n = 301). RESULTS: A group of 647 infants were enrolled in the study. Mean gestational age and birth weight of the patients were 29 ± 3.1 weeks and 1157 ± 237 g, respectively. The mean age at the onset of NEC in the NEC groups were 20 ± 2.3 days, 12 ± 3 days and 11 ± 2.6 days, respectively (P < 0.05). The mean interval from the last transfusion to the onset of NEC was 16.8 ± 8.8 h in group 1 and 240 ± 50 h in group 2 (P < 0.05). CONCLUSION: In this study, we sought to evaluate all VLBW infants, whether they received a transfusion or not. We suggest that transfusion associated NEC exists, but many other factors influence this multifactorial disease. The age of NEC onset was later in transfused vs non-transfused patients, whereas the interval between transfusion and NEC was shorter in transfused vs non-transfused patients.

A case of fetal carbamazepine syndrome with right hemihypoplasia of the entire body.

Anticonvulsant drugs taken by pregnant women to prevent seizures are among the most common causes of potential harm to the fetus. It has been suggested that carbamazepine was less teratogenic than the other drugs. Here, we report a case of fetal carbamazepine syndrome presenting with facial dysmorphism, congenital heart defect, skeletal abnormalities, renal agenesis, ambiguous genitalia, anal atresia, and right hemihypoplasia of the entire body. To the best of our knowledge this is the most severe case of fetal carbamazepine syndrome in the literature. This case can provide useful data about teratogenicity of carbamazepine therapy during the pregnancy.

A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype.

Keutel syndrome is a rare autosomal recessive disorder, characterized by brachytelephalangia (short, broad distal phalanges), midfacial hypoplasia, abnormal cartilage calcifications, peripheral pulmonary stenosis and hearing loss. Binder profile is a well known maxillonasal dysplasia composed of midfacial hypoplasia with absence of anterior nasal spine and facial dysmophism (short nose, flat nasal bridge, perialar flatness, convex upper lip). Here we report a Keutel syndrome presenting with Binder phenotype, abnormal calcifications, hearing loss and respiratory insufficiency in the newborn period. Keutel syndrome should be considered in the differential diagnosis of children with tracheobronchial calcifications, midfacial hypoplasia and stippled epiphysis.

The association between respiratory tract Ureaplasma urealyticum colonization and severe retinopathy of prematurity in preterm infants ≤1250 g.

AIM: To evaluate the association between respiratory tract Ureaplasma urealyticum (Uu) colonization and development of retinopathy of prematurity (ROP) requiring treatment. METHODS: The infants with birthweight (BW) ≤1250 g born in a third-level neonatal intensive care unit between March 2009 and May 2010 were prospectively identified. Nasopharyngeal swabs for Uu colonization were taken in postnatal first 3 days. Culture-positive patients were reevaluated on the twelfth day by nasopharyngeal swabs for Uu. The primary outcome was to define whether there was an association between respiratory tract Uu colonization and severe ROP requiring treatment. Independent sample's t-test or Mann-Whitney U-test was used to compare continuous variables and Chi-square test or Fisher's exact test for categorical variables. Multivariate (backward) logistic regression analysis was performed to simultaneously measure the influence of the independent variables with ROP as the dependent variable. RESULTS: A total of 25 (12.1%) infants developed severe ROP requiring treatment among 206 infants who underwent ROP screening. Mean BW and gestational age of total cohort were 1013±159 g and 27.9±1.6 weeks, respectively. Multivariate analysis demonstrated that BW (OR: 0.64 (95% Cl 0.47-0.88); P=0.006), duration of mechanical ventilation (OR: 1.17 (95% Cl 1.06-1.28); P=0.001), premature rupture of membrane >18 h (OR: 3.83 (95% Cl 1.2-12.2); P=0.02), and Uu positivity in both cultures (OR: 5.02 (95% Cl 1.8-13.9); P=0.002) were independent risk factors for the development of severe ROP requiring treatment. CONCLUSIONS: Respiratory tract colonization with Uu was independently associated with severe ROP requiring treatment.

A controlled trial of erythromycin and UDCA in premature infants during parenteral nutrition in minimizing feeding intolerance and liver function abnormalities.

OBJECTIVE: To compare the effectiveness of oral erythromycin versus ursodeoxycholic acid (UDCA) treatment in preventing feeding intolerance and liver function abnormalities. STUDY DESIGN: A prospective, double blind, randomized, controlled trial in which three groups of preterm infants (birth weight <1500 g) were randomized to erythromycin (12.5 mg kg(-1) per day), UDCA (5 mg kg(-1) every 6 h) or placebo treatment. During the period 352 infants were admitted to our unit of which 75 infants whose parents accepted participation were enrolled in the study. Full enteral feeding or intestinal failure-associated liver disease was considered as the primary outcome measures. RESULTS: Time to achieve full feeding after beginning the treatment was significantly shorter in the erythromycin group (P=0.014). γ-Glutamyl transpeptidase levels in the placebo group were significantly higher than in the intervention groups (P=0.001). GTT level was slightly lower in UDCA groups than erythromycin. CONCLUSION: Oral erythromycin was most effective in facilitating enteral feeding and UDCA was most effective in preventing cholestasis in very low birth weight infants. Prophylactic usage of UDCA could be considered in infants with prolonged parenteral nutrition.

Total antioxidant capacity and total oxidant status in perinatal asphyxia in relation to neurological outcome.

This study aimed to investigate the global oxidant/antioxidant status of infants with perinatal asphyxia and its relation to neurological outcomes. A prospective controlled study including term infants with perinatal asphyxia was conducted. Blood samples were obtained from patients and controls at 6-24 h and on the 3rd day of life for TAC and TOS measurement and OSI values were calculated. Neurodevelopment was evaluated at 12 months of age in survivors using Bayley scales of infant development II (BSID II). 17 term infants with perinatal asphyxia and 17 healthy controls were enrolled. On the first day of life TAC, TOS and OSI were significantly higher in patients with perinatal asphyxia (p<0.001). Total antioxidant capacity decreased significantly on day 3 compared to first day of life in the patient group (p=0.04). Infants with seizures and abnormal amplitude-integrated electroencephalography recordings had higher TOS and OSI levels in the 1st day. There was no correlation between TAC, TOS and OSI levels and BSID II scores. In conclusion oxidant/antioxidant balance is disturbed in favour of oxidants in perinatal asphyxia. Degree of oxidative stress is related to severity of neurological involvement in the first days of life.

Management of serious isolated gingival synechia in a newborn: case report and review of the literature.

Congenital synechia of the gums is a rare malformation. The fusion may be partial or complete and may be associated with other facial dysmorphologic malformations. The synechia can be fibrous or bony and may develop between the upper and lower alveolar ridges. The authors report a newborn with partial, but broad and continuous, synechia of the gums and discuss its management during the first days of life.