Congenital hypothyroidism (CH) is one of the most common causes of preventable mental retardation. Thyroid hormone has an essential role in the brain development during the first 2–3 years of life. Incidence of CH is 1:3000–1:4000 live births, but there is evidence that its incidence is increasing. Majority of newborn babies do not exhibit obvious clinical signs and symptoms until the age of 3 months due to either some residual thyroid function or transplacental passage of maternal thyroid hormone. Common clinical symptoms include lethargy, sleepiness, poor feeding, constipation, and prolonged jaundice. Other common findings on clinical examination include macroglossia, large fontanels, umbilical hernia, and hypotonia. Neonatal screening for CH is practiced in the developed countries for the last three decades, and various studies show that normal cognitive function is attainable with early detection and treatment. This review discusses different protocols being used for screening. It highlights recent recommendation of screening and retesting cutoffs. Thyroid imaging can help in differentiating underlying etiology, either thyroid dysgenesis or dyshormonogenesis. Treatment with levothyroxine (L-T4) 10–15 mcg/kg should be started immediately after diagnosis without delaying for imaging purposes. Frequent and vigilant monitoring with L-T4 dose adjustment is mandatory in infancy and childhood to achieve normal physical growth and neurodevelopment. Children with CH are followed by different pediatric specialties including general pediatricians, neonatologists, developmental pediatricians, and endocrinologists and in primary care; therefore, it is essential to increase the awareness of monitoring protocols among all physicians.

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Background: The enzyme glucose-6-phosphate dehydrogenase (G6PD) deficiency leads to impaired production of reduced glutathione and predisposes the red cells to damage by oxidative metabolites causing hemolysis. Deficient neonates may manifest clinically as indirect hyperbilirubinemia or even kernicterus. G6PD deficiency is the most common enzyme deficiency in humans affecting around 400 million people worldwide which presents in neonatal period as unconjugated hyperbilirubinemia and is inherited as X-linked recessive disorder. It has a high prevalence in persons of African, Asian, and Mediterranean descent. Materials and Methods: Sample size - It was a prospective study conducted in a Military Zonal Hospital of Jodhpur (Rajasthan India). A total of 400 neonates with indirect hyperbilirubinemia were screened for G6PD deficiency from May 2014 to April 2016 in there were 165 female and 235 male neonates. The age of the neonates varied from 2 to 10 days of life. A written informed consent was obtained. Inclusion criteria - All neonates with more than 35 weeks of gestation with total serum bilirubin >12 mg% were included in the study. Exclusion criteria - All neonates with <35 weeks of gestation and serum bilirubin <12 mg% and also neonates with direct hyperbilirubinemia, polycythemia, sepsis, ABO/Rh incompatibility, and physiological jaundice (total serum bilirubin was <12 mg% and jaundice subsided by day 10 of life) were excluded from the study. Results: The result analysis showed ten (2.5%) neonates with indirect hyperbilirubinemia were G6PD deficient. There was a significant statistical difference between G6PD deficient and non-G6PD deficient group in terms of indirect bilirubin levels, duration of phototherapy, and gender as G6PD affect only males. However, there was no difference in terms of onset of jaundice, age and gestational age of neonates, and reticulocyte count.

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Testicular torsion (TT) occurring in the newborn period has been called neonatal TT (NTT) or perinatal TT. Most of these are asymptomatic, occur prenatally, and are difficult to diagnose. Almost all NTT are extravaginal. There is a lack of consensus in the approach to management of this rare condition. An emergent surgical exploration could salvage, the asymptomatic bilateral TT and prevent asynchronous torsion. After a thorough review of the evidence, the conclusion is that NTT should be managed like TT at any other age group, except that nonoperative maneuvers may not be successful.

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Severe protein C (PC) deficiency is a rare disorder caused by homozygous or compound heterozygous genetic anomalies. PC deficiency is inherited as autosomal dominant, and most patients are heterozygous for a genetic defect. Homozygous or compound heterozygous for a mutation or other genetic defect affecting PC is typically due to inheritance of an abnormal allele from both parents. In the neonatal period, homozygous PC deficiency is usually associated with the development of severe, and often fatal, purpura fulminans and disseminated intravascular coagulation and if untreated is incompatible with life. Here, we report a case of congenital PC deficiency due to novel homozygous mutation in the protein coding gene (PROC) in a term neonate which presented with severe purpura fulminans, perinatal right renal vein thrombosis (RVT), bilateral adrenal hemorrhage, and early neonatal central retinal venous occlusion with retinal detachment. Perinatal RVT and early neonatal central retinal vein occlusion have not been reported previously in the literature.

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Background: Neonates are expected to have weight loss in the first few days of life. Many factors are considered to affect newborn weight loss such as breastfeeding adequacy, maternal parity, intravenous fluids administered during labor, and environmental factors. Most of the studies have yielded variable results. The primary objective of this study was to assess the pattern of newborn weight loss in initial 72 h after birth and the factors affecting it. The secondary objective was to assess the impact of initial weight loss on neonatal jaundice beyond 72 h and regaining birth weight at the 10^th day of life. Materials and Methods: A study was carried out on 250 term exclusively breastfed newborn babies. Neonates were weighed initially at birth and then regularly at 12 hourly intervals for 72 h. Data pertaining to various maternal factors affecting neonatal weight loss, birth weight of newborns, and adequacy of breastfeeding were recorded. The weight of the neonates on the 10^th day was also recorded. Results: About 79.2% of babies lost 5%–10% of birth weight and 12.8% of babies lost more than 10%. The maximum weight loss occurred between 60 and 72 h of life. The mean (standard deviation [SD]) percentage of weight loss in babies with inadequate breastfeeding was 9.01 (2.58) compared to 7.31 (1.82) in the adequately breastfed babies (P < 0.001). The mean (SD) percentage of weight loss in babies born to primipara was 8.31 (1.77) and in multipara it was 7.51 (2.43) (P = 0.005). Neonates who developed significant jaundice had a mean (SD) percentage weight loss of 9.87 (3.40) compared to the rest in whom it was 7.59 (1.92) (P < 0.001). In the subgroup of babies who lost >10% of birth weight at 72 h, 88.2% did not regain birth weight on day 10 of life as compared to 55% of babies in the subgroup with weight loss <10% (P < 0.003). Conclusion: Regular monitoring of weight in exclusively breastfed babies is potentially useful. Particular attention may need to be given to primipara mothers and babies who lose more than 10% weight by 72 h.

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Myiasis is an infection of live mammalian tissue by the larvae of dipterous flies and commonly found in the tropical and subtropical area. It usually infects domestic and wild animals, but rarely affects humans as well. Neonatal umbilical myiasis is an unusual occurrence with only a few reported cases in the literature. We report a case of an 8-day-old neonate from a rural area who presented with umbilical myiasis caused by larval form of Chrysomya megacephala.

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Screening for neonatal jaundice may allow early detection and treatment of severe cases and thus help prevent kernictrus. Aim: This pilot study aims to evaluate the effectiveness as well as the practicality of screening for neonatal jaundice at the same time of the Egyptian obligatory thyroid screening program among a sample of non-hospitalized newborns. Subjects and Methods: A population of 3834 term and near-term newborns delivered at El Galaa Teaching Hospital, Cairo, Egypt, was screened for neonatal jaundice at its Maternal Child Health Center within the 1st week of life at the time of thyroid screening (3rd-7th day postnatal). A transcutaneous bilirubinometer (BiliCheck, Respironics, Philips) was used, and bilirubin levels were plotted on the hour-specific bilirubin nomogram. Accordingly, parents were either given a specific date for rescreening or were immediately referred for appropriate intervention. Results: The mean Transcutaneous bilirubin (TcB) measurement was 16.1 mg/dl in 1.9% of the studied newborns placing them in the high-risk zone and requiring immediate referral for serum bilirubin ± phototherapy. In addition, 3.3% of cases had a mean TcB of 14.4 mg/dl (high-intermediate zone) requiring close follow-up. The TcB levels in the remaining babies placed them either in the low or low-intermediate risk zones of the bilirubin nomogram. All babies in the intermediate zone (n = 440) were advised to return for repeat TcB within 48 h. Of 155 babies attending rescreening, 1 case was in the high-risk zone with TcB of 17.2 mg/dl. By the end of the study, 1.2% of all the tested babies had required admission for phototherapy. Conclusion: The already established thyroid screening program offers a golden opportunity for concomitant screening for neonatal jaundice and the detection and management of missed cases of severe hyperbilirubinemia. However the set timing (3-7 days of life) might be quite late for hemolytic cases who develop severe hyperbilirubinemia early.

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Mechanical ventilation is one of the most common therapies in the neonatal intensive care unit (NICU), it is an area where technical complexity overlap individual preferences due to lack of extensive scientific evidence. Our aim is to provide clinical practice guidelines for conventional mechanical ventilation of newborn infants, utilizing the best available scientific evidence and to address the controversies. These guidelines are meant to help the clinician in managing ventilated newborn infants; it should not replace clinical judgment.

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Tetra-amelia is an extremely rare congenital anomaly. Here, we describe a liveborn neonate with the absence of all four limbs, exstrophy of bladder, cleft lip and palate, dysmorphic face, and other anomalies. This case is reported here because of its rare hereditary occurrence and association with other anomalies.

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We present a case of meconium peritonitis in a neonate born to a mother with chronic hepatitis B virus (HBV) infection with low viral load treated with entecavir. There have been a small number of case reports describing maternal acute or fulminant HBV associated with meconium peritonitis, but this case is the first to our knowledge to represent this association in the setting of chronic infection with low viral load, suggesting an alternate mechanism does exist possibly related to the chronic inflammation. There have been no adequately controlled trials of entecavir therapy in pregnant women to date, thus its effects on the human fetus are currently unknown. This case report suggests that further investigation is required into the effects of chronic HBV and its antiviral treatment on fetal development in utero.

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Gastrointestinal stromal tumors (GISTs) are the most common nonepithelial tumors of the gastrointestinal tract. Adults between fifth and seventh decades of life are most often affected. GIST is rare in pediatric age group, and GIST in neonates is so rare that not much is known about their clinical presentation and behavior. We report a case of congenital GIST in a term male neonate who presented with acute abdomen. The tumor had caused distal ileal obstruction leading to dilatation of the proximal segment associated with perforation peritonitis. The involved intestinal segment was excised, and end-to-end anastomosis was performed; however, the newborn succumbed to postsurgery. The tumor histomorphologically resembled adult GIST with spindle and epithelioid areas. Immunohistochemically, the tumor was positive for vimentin, however was negative for actin, desmin, S-100, CD34 as well as c-Kit (CD117). This is probably the first case of a congenital GIST causing intestinal obstruction associated with perforation peritonitis. The report highlights the point of distinction between adult and congenital GIST, in terms of clinical presentation, histochemical markers, prognostic factors, and behavior.

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Objective: Cranial ultrasound (CUS) and magnetic resonance imaging (MRI) are used to detect brain injury in very low birth weight (VLBW) neonates. Our study attempts to determine the abnormalities found on physician-selected MRI compared to CUS findings and whether any infant characteristic can predict new MRI-detected abnormalities. Methods: Radiology reports of neonates admitted between 2010 and 2014, with birth weights between 501 and 1500 g, were retrospectively reviewed. We excluded infants who died or were transferred and those with a major congenital malformation. Reports were individually reviewed for pertinent positive findings. In addition, various perinatal and maternal characteristics were collected from the electronic medical record. Receipt of MRI and MRI findings were compared with respect to perinatal and maternal characteristics. Results: Out of the 605 VLBW neonates evaluated for the study, 94 infants received MRI. Among the infants with MRI, 43 (46%) had significant findings and 17 (18%) had new significant findings not found by CUS. The MRI did not detect any new intraventricular hemorrhage (IVH) and ventriculomegaly or cystic periventricular leukomalacia (PVL). Infants who had lower gestational age, longer length of stay, lower birth weight, and who had severe IVH, PVL, severe retinopathy of prematurity, or bronchopulmonary dysplasia had significantly higher odds of receiving MRI. Findings from MRI (exclusive or nonexclusive) were not significantly associated with any perinatal characteristic. Conclusions: Although routine use cannot be recommended, physician-selected MRI has a relatively high detection rate of exclusive findings and can potentially increase detection rate.

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Background: Skin and soft tissue involvement (SSTI) in neonates usually present as pustulosis, cellulitis, abscesses, necrotizing fasciitis, toxic shock syndrome, and staphylococcal scalded skin syndrome. Early diagnosis and appropriate management are essential for a good outcome. The pattern of neonatal skin and soft tissue infections in fifty neonates presenting at a tertiary referral center is described. Materials and Methods: Data of fifty neonates presenting with skin and soft tissue infection were retrospectively analyzed on the basis of age at presentation, sex, weight, subtype of SSTI, anatomical site, predisposing factors, pus culture, blood culture, management, and outcome. Results: The mean age of presentation was 18.42 days. There were 21 males and 29 females. The mean weight at presentation was 2.83 kg. Forty-one patients had localized abscesses; six had necrotizing fasciitis and three neonates had cellulitis. The thigh was the most common area involved in patients with localized abscesses. Back and anterior abdominal wall were the most commonly involved sites in patients of necrotizing fasciitis. Total leukocyte counts were increased in all patients. Blood culture was positive in two patients with necrotizing fasciitis. Secondary suturing was required in one patient with a large raw area in the region of the axilla. Hospital stay ranged from 3 to 4 days for localized abscesses to 10–45 days for necrotizing fasciitis. Conclusion: There has been an increase in the incidence of neonatal soft tissue infections. Immediate recognition and diagnosis are essential to avoid morbidity and mortality.

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Fungal endocarditis is an uncommon complication of invasive fungal infections and is associated with high burden of morbidity and mortality. It frequently occurs in premature infants, and Candida albicans is the predominant fungal agent. We report a case of a female neonate, born at 27 weeks of gestation, who developed during the 2^nd week of life candidemia and endocardic vegetation. Initially treated with fluconazole, she received caspofungin combined with liposomal amphotericin B and subsequently micafungin plus low-dose heparin. We observed the complete resolution of the vegetation 7 weeks after the end of the treatment.

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Myotubular myopathy (MTM) is one of the rare types of the congenital myopathy. There are three types of inheritance documented, namely, X-linked recessive, autosomal recessive, and autosomal dominant. X-linked myotubular myopathy (XLMTM) is most common and severe in the spectrum. Usually, it is characterized by severe hypotonia and difficulty in establishing spontaneous respiration at birth in affected males. The incidence of XLMTM is estimated at 2/100,000 male neonates. The disease affects only male neonates and is linked to mutation in MTM1 gene, located on Xq28 and coding of myotubularin. Identification of the MTM1 gene mutations is of great importance as it allows confirmation of diagnosis and determination of carrier status, which is necessary for the genetic counseling. We report one case of MTM confirmed by the MTM1 gene mutation in Indian family with a history of neonatal death.

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A term male neonate weighing 2.9 kg was brought to emergency room with increasing respiratory distress. On examination, a mass was identified in the nasopharynx. Magnetic resonance imaging of head and neck revealed lobulated polypoidal abnormal soft tissue signal mass lesion occupying the nasopharynx extending inferiorly in the upper part oropharynx. The mass was excised and biopsy suggested nasopharyngeal teratoma.

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Choledochal cysts (CCs) are rare, congenital cystic dilations of the hepatobiliary tree that require surgical resection to avoid complications such as increased risk of malignancy. A 25-week gestational age male infant developed acholic stools, elevated alkaline phosphatase, and ultrasound findings consistent with CC Todani Type IVA. Surgery was deferred due to the patient's low weight. The patient's symptoms and radiographic findings subsequently resolved spontaneously. CCs have not been previously reported in extremely preterm infants. There are rare reported cases of spontaneously resolving hepatic cysts, all containing key differences from our patient. In patients in whom immediate surgery is not feasible, conservative management with close follow-up and serial ultrasound examinations would appear to be a reasonable course of action.

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Congenital ventricular diverticulum is a rare congenital anomaly, which is defined as an outpouching structure that contains all the three layers of heart; that is, endocardium, myocardium, and pericardium and shows synchronous contractility. It remains clinically asymptomatic. The treatment of the left ventricular diverticulum (LVD) is undefined. We report a rare case of LVD presented as fetal bradycardia and further postnatally as ventricular premature complexes. A conservative approach with follow up was adopted in the case.

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The Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder which is characterized by the presence of renal and brain abnormalities. Hiatal hernia, initially thought to be a part, is longer a consistent feature of syndrome. The neurological features include microcephaly, developmental delay, seizures, hypotonia, abnormal sulci and gyri, and abnormal cerebellum. The renal finding is that of nephrotic syndrome, but histopathologically may vary to focal segmental sclerosis or mesangial sclerosis. Nephrotic syndrome is usually diagnosed before the age of 2 years and may lead to renal failure. We describe a 29-week preterm baby of unrelated parents with intrauterine growth retardation, dysmorphic features, lissencephaly, and nephrotic syndrome. Nephrotic syndrome was diagnosed at the age of 2 months. The baby had progressive neurological deterioration and died at the age of 14 weeks.

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