Congenital contractural arachnodactyly is a rare autosomal dominant disorder characterized by crumpled ears, congenital contractures, arachnodactyly and scoliosis. Only few cases have been described to date. Here we report a newborn with congenital contractures, crumpled ears and scoliosis. Molecular analysis revealed a novel fibrillin-2 mutation at the donor splice site of intron 28. We discuss the differential diagnosis of neonates with congenital contractures and review the current knowledge on congenital contractural arachnodactyly.
Paradoxical response to anti-tubercular drugs remains a diagnostic dilemma. In India where tuberculosis is quite prevalent, paradoxical response to anti-tubercular treatment (ATT) is either misdiagnosed or under-diagnosed. We report two cases of optochiasmatic arachnoiditis due to paradoxical response in children suffering from tuberculous meningitis. Visual acuity was recorded as no light perception in all eyes of both patients while they were taking 4-drug ATT (isoniazid, rifampicin, pyrazinamide and ethambutol). However their systemic conditions did not worsen. They were treated with intravenous methylprednisolone for five days followed by systemic corticosteroids on a tapering dose for four weeks along with ATT. This case report highlights the importance of early recognition of this sight-threatening complication and timely, effective treatment to prevent permanent blindness.
ery low birth weight (VLBW) neonates represent a vulnerable group of newborns with a high mortality rate. The survival in neonates is associated with their birth weights, gestation, and illness severity. The survival rate of VLBW infants varies globally with 40% in developing countries to more than 90% in developed countries [1]. VLBW neonates who survived tend to have a higher risk for neurodevelopmental disabilities causing significant changes to the lives of their families [2]. Varied morbidities have been associated during initial hospitalization of VLBW infants, including respiratory distress syndrome (RDS), bloodstream and central nervous system infections, necrotizing enterocolitis (NEC), chronic lung disease (CLD), intraventricular hemorrhage, periventricular leukomalacia, and retinopathy of prematurity, leading to exposure to additional diagnostic, therapeutic, and surgical interventions. These cause psychological distress to families with an increase in the length of hospital stay, the risk of recurrent hospitalization, and costs of treatment [3].The morbidities in infants are proved to be associated with neurodevelopmental disabilities developing later including cerebral palsy, cognitive delay, hearing loss, and visual impairment [4,5]. According to several studies performed about morbidity and mortality and morbidity of neonates in the past two decades, no additional improvements have been seen [6]. Data are scarce on the incidence of short-term morbidities in preterm neonates from India. Bhat and Adhisivam concluded that early weaning from mechanical ventilator support in VLBW infants reduced morbidities such as CLD and infections [7]. The present study was designed and executed to assess the short-term outcomes of neonates with birth weights between 1000 g and 1500 g treated at the tertiary hospital of Central India. MATERIALS AND METHODSThis prospective cohort study was conducted in the NICU, conducted at the tertiary hospital of Central India from April 2014 to March 2015. It was a level 3 NICU with 20 intensive care beds and 6 bedded kangaroo mother care (KMC) ward with an annual admission of more than 1000 cases. All live VLBW neonates (1000-1500 g), admitted between the study period, were enrolled for the study. Extremely low weight (<1000 g), low birth weight (1500-2500 g), and normal birth weight (>2500 g) neonates
A ccording to the 2011 Census report, India comprises 17.5% of the world's population [1]. The current neonatal mortality rate (NMR) was 25.3/1000 live births accounting for two-thirds of the infant mortality in India. According to the data from the National Neonatal Perinatal Database (NNPD, 2002-03), sepsis is one of the predominant morbidities in neonates. The most common clinical category of systemic infection was septicemia found in 88.1%, while pneumonia was diagnosed in 32.8% of infants with systemic sepsis [2]. Neonatal sepsis (NS) or neonatal bloodstream infection is a pertinent reason behind death in neonates and children under 5 years of age. Sepsis ranks at the higher position among reasons causing avoidable mortality in neonates. Patients who are suffering from human immunodeficiency virus (HIV), tuberculosis, malaria, and other infectious diseases may ultimately result in death due to the clinical condition of sepsis. Every year 2•9 million newborns die because of bacterial infection indicating it as a leading cause of mortality among them [3]. At present, there are a variety of tests available for testing sepsis in neonates such as complete blood count (CBC), C-reactive protein (CRP) test, absolute neutrophil count (ANC), immature to total neutrophil (I/T) ratio, erythrocyte sedimentation rate (ESR) [4], procalcitonin (PTC) test [5], and confirmatory tests like bacterial culture testing [3], and immune-histological test [4]. CRP test is one of the most trending tests in the study of NS. CRP is a homopentameric acute-phase inflammatory protein and binds to polysaccharides such as phosphocholine and activates the classical complement pathway of innate immunity by triggering C1q [6]. Elevated expression levels of CRP denote inflammatory conditions such as rheumatoid arthritis, cardiovascular diseases, and infection [7]. In the case of some bacterial infections, blood serum contains high levels of CRP but also decreases exponentially with a reduction in infection [4,8]. According to Dagan et al. [9], children are discharged without any treatment if they are found negative for signs of sepsis or with a single dose of intramuscular antibiotics, but may potentially suffer from sepsis. CRP should be considered in such patients where the diagnosis of sepsis is not straightforward. Our current research aims to determine the efficacy of shortterm versus long-term antibiotic treatment using serial CRP as
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