Congenital nephrotic syndrome (CNS) combined with eye abnormalities including microcoria (small pupils that don't respond to light) and abnormal lens shape can suggest a clinical diagnosis of Pierson syndrome (which mainly affects the kidneys and eyes). Mutations in the genes NPHS1, NPHS2, and WT1 are known to account for the majority of CNS cases, whereas a definitive diagnosis of Pierson syndrome can be established by the detection of a causative mutation in both copies of a patient's LAMB2 gene (encoding laminin β2). CNS can manifest in utero (ultrasound may reveal hyperechogenic kidneys and oligohydramnios), or during the first 3 months of life. Pierson syndrome is an autosomal recessive disorder comprised of CNS and distinct ocular abnormalities. The prognosis of this extremely rare disorder is very poor, with the most babies developing end-stage renal disease. Those who do survive tend to show the neurodevelopmental delay and visual loss. We report a case of neonatal Pierson syndrome in conjunction with complex cyanotic cardiac disease in which a novel homozygous mutation in the LAMB2 gene was detected. The clinical association of Pierson syndrome with heart manifestation is a novel finding, reported here for the 1^st time.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

Background: Indomethacin has been used as the primary pharmacotherapeutic agent for the closure of patent ductus arteriosus (PDA) in preterm infants. However, it is commonly observed that infants often respond differently to indomethacin treatment with some requiring multiple courses of the drug and subsequently surgical ligation. Objectives: To explore common variables that could be associated with failure of a primary course of indomethacin for PDA in preterm infants.Methods: We examined 83 preterm infants who received intravenous indomethacin for PDA treatment from 2010 to 2013. We identified those who failed primary pharmacotherapy and required subsequent courses or surgical ligation. A number of perinatal/neonatal variables in the infants with and without primary indomethacin failure were compared initially for univariate analysis. Following the univariate analysis, those variables which had a significant difference between the two groups were selected to carry out logistic regression analysis to find out independent risk factors for indomethacin failure. Results: Of 77 infants analyzed, 36 (46.7%) had a primary indomethacin failure and nine infants (11.7%) underwent surgical ligation. Univariate analysis revealed that infants with primary indomethacin failure were significantly more preterm, were more likely to be males, did not receive a complete course of antenatal corticosteroids, their mothers had clinical chorioamnionitis and indomethacin dose interruption was documented during clinical care. The multivariate logistic regression analysis showed that dose interruption (odds ratio [OR]: 27.14; 95% confidence interval [CI]: 5.94, 124.07) and clinical chorioamnionitis (OR: 7.80; 95% CI: 1.73, 35.00) were independent risk factors for indomethacin failure. Conclusion: Indomethacin dose interruption and clinical chorioamnionitis appear to be independent risk factors for primary indomethacin failure in preterm infants.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

Neonatal intestinal mucormycosis may mimic and is mistaken as NEC. Diagnosis remains difficult and mortality is high. Unlike NEC where there may be a place for watchful conservative management, urgent aggressive surgical debridement and resection along with systemic antifungal are necessary in GIM. This case is reported to illustrate lessons learnt to improve survival in an otherwise almost universally fatal condition due to missed and delayed diagnosis.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Subcutaneous fat necrosis (SFN) of the newborn is a rare entity seen in newborns with several fetal and maternal risk factors. Lesions of SFN which appear as diffuse swelling, erythematous nodules or plaques are typically located on extremities, trunk, and some parts of the face. A conservative treatment with analgesics is sufficient in most of the cases. Because of the nonspecific appearance of the lesions, SFN can easily be misdiagnosed as hemangioma or other disorders more frequently seen in this age group. Hypercalcemia and other serious complications may be overlooked in the case of misdiagnosis. We present a newborn with SFN, who was treated with hypothermia after asphyxic birth, resolving spontaneously in first 2 months of her life.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

A term male baby weighing 2.7 kg was brought to emergency with a history of increasing head size. Magnetic resonance imaging of the brain revealed enhancing hemorrhagic lesion with areas of necrosis involving septum pellucidum, predominantly in right frontal horn extending into 3^rd ventricle with obstructive hydrocephalus. Tumor was decompressed and biopsy of the tumor revealed anaplastic ependymoma.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Hepatoblastoma, the most common malignant liver tumor of infancy is known to present at a median age of 18 months. However, we happened to manage a case of a 3-month-old male infant with hepatoblastoma involving the left lobe of the liver. He underwent complete primary surgical excision of the tumor (left hepatectomy) and received six cycles of adjuvant chemotherapy thereafter. At a follow-up of 2 years, he is tumor-free as diagnosed by radiological investigations and follow-up serum alpha-fetoprotein (AFP) levels. Even on a thorough literature search, we did not find a similar report of an infant who has undergone elective primary surgical excision, except for the instances requiring emergency hepatectomy for hemoperitoneum resulting from perinatal tumor rupture. This is probably one of the youngest children in world literature with congenital hepatoblastoma, undergoing successful hepatectomy at presentation.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Vertebral osteomyelitis due to mucormycosis is a rare but fulminant and fatal disease. Only three cases have been reported in adults with none reported in neonates till date. The present paper reports the first case of a neonate who developed vertebral osteomyelitis and epidural abscess due to mucormycosis following repair of esophageal atresia.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Carnitine palmitoyltransferase II (CPT II) deficiency is a rare disorder of mitochondrial fatty acid oxidation characterized by a multisystemic course and early death during the neonatal period. Early recognition and diagnosis are important because a prompt treatment at birth may prolong survival. In this case report, we detected and corrected hypoglycemia and severe hyperkalemia in a collapsed neonate who manifested early heart rate anomalies and myocardial hypertrophy on cardiac ultrasound rapidly followed by death. Multiorgan degeneration, mostly in the heart and liver, was revealed by autopsy. The tandem mass and molecular genetic testing confirmed the diagnosis of CPT II deficiency. Our data document and confirm the severity of the disease. Laboratories alterations such as hyperkalemia and hypoglycemia in a term neonate with myocardial hypertrophy must always alert the physician to investigate and treat the metabolic disease.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Congenital midline cervical cleft (CMCC) is a very rare malformation of the anterior neck. We present a case of a male neonate with typical features of this anomaly who underwent Z-plasty repair at the age of 2 months with excellent cosmetic and functional outcome. We recommend early surgical intervention to avoid complications, which result if surgery is delayed. To the best of our knowledge, this is the first case of CMCC to be reported from Saudi Arabia.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Larsen syndrome (LS) is a rare osteochondrodysplastic genetic disorder. The cardinal features of this condition are dislocations of the large joints, skeletal malformations, and the distinctive facial features. Here, we are presenting the features of LS in a full term female newborn.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Erythema multiforme (EM) is an acute, self-limiting, mucocutaneous hypersensitivity reaction characterized by distinctive target lesions. Most cases have been attributed to infection. EM occurs mainly in young adults and is extremely rare during the neonatal period. We report an 11-day-old boy who presented with target skin lesions on upper limbs and lower limbs with no other associated symptoms. He had no remarkable maternal, birth, or past medical history. Complete blood count, chest radiography, and herpes simplex virus 1 and 2 immunoglobulin G titers revealed no abnormalities. Urine analysis showed fungal hyphae and culture grew candida albicans. Lesions disappeared after starting antifungal. Pathologic examination showed vacuolar interface change and dyskeratotic cells in the epidermis consistent with EM. This unusual case emphasizes the importance of recognizing diagnostic clues in examining patients.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Leptin synthesized by adipose tissue has significant association with birth weight, body mass index and insulin-glucose ratio. Fetuses with growth restriction (FGR) have substantial reduction in adipose tissue; hence lower levels of leptin in cord blood. Hyperleptinemia has been observed in pregnancy induced hypertension (PIH). Objectives: To estimate leptin levels in cord blood of growth restricted and normal neonates and study the factors influencing the same. Methods: In this prospective study, a sample size of 40 each of growth restricted and appropriate for gestational age neonates were included. Data included maternal illnesses, anthropometry, maturity and ponderal index (PI). Cord leptin assay was done using commercial solid phase competitive ELISA and was expressed in ng/ml. Statistical analysis was done using t test and Pearson correlation co-efficient using recommended software. Results: Maternal PIH was the major etiological factor contributing to FGR (12, 30%, P =0.000). Mean cord leptin in ng/ml was 2.80±0.4 in growth restricted group and 3.53±0.5 in normal neonates with P value of 0.074. There was no correlation between cord leptin and birth weight (r=0.08; p=0.61) and PI (r=0.03; p=0.89). In female neonates and those born to mothers with PIH, mean leptin levels were 3.16±0.6 and 3.13±0.7 ng/ml respectively, higher in comparison with males and those born to mothers without hypertension. Conclusion: Mean cord leptin levels were lower in the growth restricted and higher in female gender and those born to maternal PIH. Cord leptin may be influenced by various maternal and fetal factors.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Objectives: To review the data of 11 term newborns with persistent pulmonary hypertension of the newborn (PPHN) resistant to conventional therapy and treated with intravenous (IV) iloprost and oral sildenafil as rescue medicine. Materials and Methods: Iloprost was started 2 ng/kg/min intravenously, if oxygenation index (OI) 25 in spite of conventional methods in 24 h. During follow-up, if OI remains 25, iloprost dosage was increased by 1 ng/kg/min by 6-h intervals. If there was improvement in OI in 24 h, treatment continued with IV iloprost and thereafter with inhaled iloprost during weaning. However, if there was no improvement in OI, treatment continued with 0.25 mg/kg/dose oral sildenafil given at 4 doses. If OI remains 25, sildenafil dosage was increased by 0.25 mg/kg at each following dose. Similarly, if there was improvement in OI in 24 h, treatment continued with oral sildenafil and thereafter with inhaled iloprost during weaning. Results: In 5 patients, treatment continued with oral sildenafil because of no response to IV iloprost. The treatment continued median 5 days in subjects given IV iloprost, and median 6 days with oral sildenafil. The extubation time was median 10 days and the follow-up continued median 17 days. The mean systolic pulmonary artery pressure was 63.3 mmHg before treatment, and 38.5 mmHg before discharge (P < 0.01). Ten of 11 subjects (% 91) were discharged and 1 subject died because of noncardiopulmonary reasons. Conclusion: These results showed that, the use of IV iloprost and oral sildenafil as rescue medicine in patients with resistant PPHN could be effective and safe.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Aims: To compare efficacy of phenobarbital (PB), phenytoin (PHT) and lorazepam (LZP) for neonatal seizures. Settings: Medical College Hospital. Design: Prospective block design randomized trial (registration-CTRI/2012/12/003255). Subjects and Methods: Of 121 neonates with convulsions, 106 were grouped to receive PB (20 mg/kg), PHT (20 mg/kg) or LZP (0.05 mg/kg) intravenously over 5 min. The primary end point was clinical control of seizures within 2.5 min of starting single dose anti-epileptic drug (AED). Treatment was considered to have failed if the seizures lasted longer than 5 min, or a total of 2.5 min of seizure activity within 5 min period after a single dose. Statistical Analysis: Chi-square, Fisher's exact test, t-test, ANOVA. Results: Seizures subsided in 78 (74%) neonates within 2.5 min with a single dose, recurred in 55 (52%) and other AED was required in 30 (28%) neonates. 11% (10/89) required AED beyond discharge. The complete control of neonatal seizures within 2.5 min was similar with PB and PHT, but significantly more seizure control (89%) in the LZP group (P < 0.05). Adverse events (19%) were: PB - drowsiness 11; PHT - thrombophlebitis 3, nystagmus 1; LZP - drowsiness 2, hypotonia 3. 22 neonates expired (phenobarbitone 12, PHT 3, LZP 7). Conclusion: The complete control of 1^st neonatal seizures within 2.5 min was similar with PB and PHT, but LZP had less treatment failure and less response time to control seizures. For control of recurrence and persistent seizure, none of the three drugs was better than the other. PB had the worst outcome as far as the deaths were concerned, followed by LZP and PHT.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: There is a paucity of literature describing the stages in zone I and posterior zone II retinopathy of prematurity (ROP). Aims: The aim was to describe and compare the clinical presentation and progression to the treatment of infants with zone I and posterior zone II ROP. Settings and Design: Retrospective case series at a single tertiary care Neonatal Intensive Care Unit. Subjects and Methods: Patient information collected included: Gestational age, birth, weight, postmenstrual age (PMA) at first ROP diagnosis, and PMA at treatment. Digital retinal photographs were also analyzed when available. Statistical Analysis Used: Student's t-test, Chi-square analysis. Results: Totally, 14 of 47 (29.8%) infants were classified with zone I ROP and 33 (70.2%) as posterior zone II ROP. The mean PMA at first ROP diagnosis was 33 weeks in both zones. The incidence of treatment was higher in the zone I ROP (85.7%) compared to posterior zone II ROP (48.6%). About 50% of infants with zone I ROP had an elapsed time of 1 week from first presentation to a disease requiring treatment, compared with 6.25% of posterior zone II ROP infants. By 2 weeks, the proportion of posterior zone II infants requiring treatment rose to 56%. Sequential and nonsequential analysis of retinal images illustrated the similar atypical presentation of ROP in both zones. Conclusion: The presentation of infants with ROP in the zone I and posterior zone II are very similar. The clinical course in the zone I ROP is faster and more aggressive than posterior zone II. Due to their atypical morphology and rapid progression, appropriate recognition, and classification of ROP is needed for adequate and timely treatment.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Aims: To know the effects of recombinant human erythropoietin (rhEPO) concurrent with hypothermia (HT) on neuron-specific enolase (NSE) and S100B protein levels in cerebrospinal fluid (CSF) in newbons with hypoxia-ischemia encephalopathy (HIE) and to evaluate the presence of EPO in CSF as well as the safety of repeated low doses of rhEPO. Subjects and Methods: This prospective study enrolled 15 infants with HIE. All infants received rhEPO (NeoRecormon^®) intravenously in the first 3 h of life, at a dose-rate of 400 IU/kg/48 h, 2 weeks concurrent with total body HT. NSE and PS100B in CSF were collected after rewarming. Magnetic resonance imaging was undertaken by a single neuroradiologist between 7 and 15 days of life in surviving infants. Developmental assessments were performed at the age of 18 months. The Bayley Scales of Infant Development was performed. Results: There were two deaths in the first 72 h of life (13.3%). Moderate to severe disability occurred in one child (6.6%). 80% survived with no neurodevelopmental handicaps at 18 months of life. NSE and PS100B values in CSF were 25.1 ± 14.23 μg/L and 9.27 ± 16.19 μg/L respectively. EPO values in CSF were 45.6 ± 12.23 mU/mL.Time to reach normal background pattern in infants with no severe disability at 18 months of age was before 48 h of life. No complications were recorded. Conclusion: EPO is an affordable cytokine with the potential neuroprotective effect that can be used in combination with HT and crosses blood brain barrier. Further research is required to define the optimum treatment.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Objectives: To conduct a systematic review of the clinical trials evaluating the role of antibiotics for prevention or treatment of meconium aspiration syndrome (MAS). Methods: We searched several electronic databases including MEDLINE, EMBASE, CINAHL, SCOPUS (until September 2013), and CENTRAL (until August 2013). Additional citations were retrieved from the bibliographies of the selected articles. Studies were included if they were: Randomized or quasi-randomized trials, compared use of antibiotics with no antibiotics for treatment or prevention of MAS, and reported on clinical outcomes in the neonatal period. Results: Four randomized controlled trials (RCTs) were identified; three studies enrolled subjects for treatment of MAS and one study evaluated the prophylactic use of antibiotics in infants exposed to meconium stained amniotic fluid (MSAF). These trials enrolled 695 infants, with the duration of antibiotics between 3 and 7 days. All studies excluded subjects considered to be at higher risk for neonatal sepsis at onset. There were no differences noted for the outcomes of infection rates (relative risk [RR] [95% confidence interval: 0.85 [0.42, 1.73] for clinical sepsis, and 0.93 [0.36, 2.40] for culture-proven sepsis), need for mechanical ventilation (RR: 1.39 [0.68, 2.82]), air leaks syndrome (RR: 1.65 [0.68, 3.99]), hospital stay (mean difference − 0.34 days [−1.13, 0.45]), or mortality (RR: 1.25 [0.36, 4.39]) between the intervention and control groups. Conclusions: In neonates at low-risk for sepsis, insufficient evidence exists to support the routine use of antibiotics following exposure to MSAF or for the treatment of for suspected MAS. We discuss the implications and limitations of review findings for clinical practice.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]