Etiology In Infants Research Articles

Mitochondrial cardiomyopathy: a puzzle for the final diagnosis.

Hypertrophic cardiomyopathy in children has diverse causes. Mitochondrial diseases, a rare aetiology leading to cardiomyopathy in 20-40% of affected children, predominantly present as hypertrophic cardiomyopathy. Diagnosis is challenging due to inconsistent genotype-phenotype correlation, resulting in various clinical presentations. We present a case of a one-month-old infant with severe hypertrophic cardiomyopathy and cardiac tamponade. Genetic diagnosis revealed a Valyl-tRNA synthetase 2 (VARS2) gene mutation, linking it to mitochondrial encephalopathy-cardiomyopathy. This case highlights novel variants and expands the understanding of hypertrophic cardiomyopathy aetiology in infants.

Diagnostic Yield of CSF Testing in Infants for Disorders of Biogenic Amine Neurotransmitter Metabolism.

Biochemical testing of CSF for neurotransmitter metabolites and their cofactors is often used in the diagnostic evaluation of infants with neurologic disorders but requires an invasive, labor-intensive procedure with many potential sources of error. Our aim was to determine the diagnostic yield of CSF testing for biogenic amines (serotonin, norepinephrine, epinephrine, and dopamine) and their cofactors in identifying inborn errors of neurotransmitter metabolism among infants. We evaluated all infants aged 1 year or younger who underwent CSF biogenic amine neurotransmitter (CSFNT) testing at Children's Hospital of Philadelphia (CHOP) and Boston Children's Hospital (BCH) between 2008 and 2017 in this cross-sectional study. The primary outcome was the proportion of individuals who received a diagnostic result from CSFNT testing. Secondary assessments included the proportion of infants who obtained a diagnostic result from other types of diagnostic testing. The cohort included 323 individuals (191 from CHOP and 232 from BCH). The median age at presentation was 110 days (range 36-193). The most common presenting features were seizures (71%), hypotonia (47%), and developmental delay (43%). The diagnostic yield of CSFNT testing was zero. When CSF pyridoxal-5-phosphate level was assayed with CSFNT testing, 1 patient had a diagnostic result. An etiologic diagnosis was identified in 163 patients (50%) of the cohort, with genetic testing having the highest yield (120 individuals, 37%). Our findings support the case for deimplementation of CSFNT testing as a standard diagnostic test of etiology in infants aged 1 year or younger presenting with neurologic disorders.

Римантадин в сочетании с альгинатом натрия как средство терапии и профилактики ОРВИ разной этиологии у детей раннего и дошкольного возраста

Римантадин в сочетании с альгинатом натрия как средство терапии и профилактики ОРВИ разной этиологии у детей раннего и дошкольного возраста

Fever Etiology in Infants Aged 1-12 Months with No Apparent Focus at Onset

Fever Etiology in Infants Aged 1-12 Months with No Apparent Focus at Onset

Başlangıçta Ateş Odağı Saptanamayan 1-12 Ay Arası İnfantlarda Ateş Etiyolojisi

Başlangıçta Ateş Odağı Saptanamayan 1-12 Ay Arası İnfantlarda Ateş Etiyolojisi

A Rare Case of Infantile Otalgia and Otorrhagia due to Alive Leech Bite

Abstract Pediatric ear infestation with leeches is a rare event; however, it can lead to serious complications. Leeches usually make their way into the human body through bathing with or drinking of contaminated water from nonhygienic sources and swimming in infested water. To our knowledge, this is the first report of leech removal from the external auditory canal in an infant. We described the case of a 3-month-old infant who presented to our institution with sudden left otalgia, otorrhagia, poor oral intake, and prolonged crying for 4 days, culminating in a single epileptic attack, drowsiness, and electrolyte disturbances. Microscopic visualization of the left ear revealed minimal oozing of blood with clots obscuring the ear canal and a live motile 3 cm leech deeply seated near the tympanic membrane. Extraction was performed. The bloody discharge ceased completely and all symptoms were relieved. Leech infestation is typically considered after other potential etiologies in infants with sudden otorrhagia and otalgia living in an endemic region. It should be considered a hidden cause of pediatric discomfort. Detailed history taking and meticulous ear examinations are vital for the prompt management to avoid unnecessary computed tomography imaging and radiation, unhelpful interventions, and delayed treatment. A diagnosis was reached and treatment performed by careful inspection and leech removal, respectively.

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.

Cirrhosis is usually a late-onset and life-threatening disease characterized by fibrotic scarring and inflammation that disrupts liver architecture and function. While it is typically the result of alcoholism or hepatitis viral infection in adults, its etiology in infants is much less understood. In this study, we report 14 children from ten unrelated families presenting with a syndromic form of pediatric liver cirrhosis. By genome/exome sequencing, we found recessive variants in FOCAD segregating with the disease. Zebrafish lacking focad phenocopied the human disease, revealing a signature of altered messenger RNA (mRNA) degradation processes in the liver. Using patient's primary cells and CRISPR-Cas9-mediated inactivation in human hepatic cell lines, we found that FOCAD deficiency compromises the SKI mRNA surveillance pathway by reducing the levels of the RNA helicase SKIC2 and its cofactor SKIC3. FOCAD knockout hepatocytes exhibited lowered albumin expression and signs of persistent injury accompanied by CCL2 overproduction. Our results reveal the importance of FOCAD in maintaining liver homeostasis and disclose a possible therapeutic intervention point via inhibition of the CCL2/CCR2 signaling axis.

Characteristic nail lesions in Kawasaki disease: Case series and literature review.

Kawasaki disease (KD) is vasculitis of unknown etiology in infants and young children. The diagnostic criteria for KD include major and minor symptoms, but various nail lesions are not described in detail. The aim of this study was to identify symptoms that are relatively found in nail of KD as diagnostic markers. After literature review, various nail lesions are classified as Beau's lines, leukonychia, onychomadesis, orange-brown chromonychia, and pincer nail deformity. The orange-brown chromonychia is the most common nail lesion in KD. In this study, the authors found three cases of KD with orange-brown chromonychia; two of these cases included rare dotted or splinter hemorrhages in the nail bed that were found on dermoscopic examination. The authors propose that these nail lesions, including hemorrhage of the nail bed, could be included as a helpful diagnosis of KD.

Seizure Severity and Treatment Response in Newborn Infants with Seizures Attributed to Intracranial Hemorrhage

We sought to characterize intracranial hemorrhage (ICH) as a seizure etiology in infants born term and preterm. For infants born term, we sought to compare seizure severity and treatment response for multisite vs single-site ICH and hypoxic-ischemic encephalopathy (HIE) with vs without ICH. We studied 112 newborn infants with seizures attributed to ICH and 201 infants born at term with seizures attributed to HIE, using a cohort of consecutive infants with clinically diagnosed and/or electrographic seizures prospectively enrolled in the multicenter Neonatal Seizure Registry. We compared seizure severity and treatment response among infants with complicated ICH, defined as multisite vs single-site ICH and HIE with vs without ICH. ICH was a more common seizure etiology in infants born preterm vs term (27% vs 10%, P<.001). Most infants had subclinical seizures (74%) and an incomplete response to initial antiseizure medication (ASM) (68%). In infants born term, multisite ICH was associated with more subclinical seizures than single-site ICH (93% vs 66%, P=.05) and an incomplete response to the initial ASM (100% vs 66%, P=.02). Status epilepticus was more common in HIE with ICH vs HIE alone (38% vs 17%, P=.05). Seizure severity was greater and treatment response was lower among infants born term with complicated ICH. These data support the use of continuous video electroencephalogram monitoring to accurately detect seizures and a multistep treatment plan that considers early use of multiple ASMs, particularly with parenchymal and high-grade intraventricular hemorrhage and complicated ICH.

Ovary-Sparing Surgery for Ovarian Teratoma in an Infant with Nonbilious Vomiting.

Ovarian teratoma is the most common ovarian tumor in children with an overall incidence of 2.6 cases per 100,000 girls per year. Diagnosis and management are challenging due to its nonspecific presentation, malignancy determination, and need to conserve fertility. A previously healthy 5-month-old female infant presented with fever, abdominal distension, and nonbilious emesis, and an 8.2 × 6.8 × 6.1-centimeter pelvic mass originating from the left adnexa was found on imaging. Due to concern for malignancy and torsion, exploratory laparotomy and ovarian-sparing surgery (OSS) with resection of the mass were performed. Histology showed a grade 1 teratoma. This case illustrates a challenging diagnosis and its symptom overlap with other etiologies in infants. The keys to diagnosing and managing this entity are including ovarian pathology in the differential diagnosis and performing OSS whenever possible. Furthermore, ultrasound follow-up is needed to monitor for ipsilateral and contralateral ovarian tumors later in life.

Demographics, aetiology and outcome of paediatric acute liver failure in Singapore.

The aetiology of paediatric acute liver failure (PALF) varies widely according to age, and geographic and socioeconomic factors. This study aimed to examine the epidemiology, aetiology and outcome of PALF in Singapore at a single centre. A retrospective review was performed of patients aged 0-18 years who were diagnosed with PALF from 2007 to 2019. PALF was defined by: absence of chronic liver disease; biochemical evidence of acute liver injury; and coagulopathy, non-correctible by vitamin K, defined as prothrombin time (PT) ≥20 seconds or international normalised ratio (INR) ≥2.0 regardless of hepatic encephalopathy (HE) or PT ≥15 seconds or INR ≥1.5 in the presence of HE. 34 patients were included. Median age at diagnosis was 10 months (range 7 days to 156 months). The top three causes of PALF were indeterminate (41.2%), metabolic (26.5%) and infectious (26.5%) aetiologies. A metabolic disorder was the most frequent aetiology in infants <12 months (38.9%), whereas an indeterminate cause was the most common in children >12 months (50%). No cases of viral hepatitis A or B presenting with PALF were detected. Overall spontaneous recovery rate (survival without liver transplantation [LT]) was 38.2%, and overall mortality rate was 47.1%. Six patients underwent living-donor LT, and the post-transplant survival at one year was 83.3%. The aetiologic spectrum of PALF in Singapore is similar to that in developed Western countries, with indeterminate aetiology accounting for the majority. PALF is associated with poor overall survival; hence, timely LT for suitable candidates is critical to improve survival outcomes.

Brain auditory evoked potentials in pediatric Intensive Care Unit: diagnostic role on encephalopathy and central respiratory failure on infants.

Encephalopathy of different etiologies in infants is often the reason for central respiratory insufficiency which eventually leads patients to the Pediatric Intensive Care Unit. Magnetic resonance imaging (MRI) and brainstem auditory evoked potentials (BAEPs) may be useful to identify brainstem alterations among patients with respiratory insufficiency of central origin. MRI is a compulsory technique to identify brain abnormalities, but may fail to detect brainstem lesions of small dimensions. BAEPs play a highly sensitive role on brainstem dysfunction identification because of the generators of different peaks which are related to specific brainstem structures. The study included ten infants affected by encephalopathy of different etiologies and early neurological respiratory failure. To evaluate BAEPs, the surface electrodes were placed at the vertex (Cz) and on each mastoid side. All subjects presented alteration of BAEPs. The brain MRI revealed selective injury of the brainstem in four patients and supratentorial alterations in six patients. The early identification of brainstem lesions in mechanically ventilated infants with encephalopathy may reduce the weaning off mechanical ventilation's attempt numbers and provide early informative discussions with families and clinical caregivers about treatment options, such as tracheostomy, long term ventilation and the reduction of their length of PICU stay. Furthermore, this would support the evaluation process concerning the affected children, their families and the needs of other social groups, including health systems.

DIFFERENTIATING BILIARY ATRESIA FROM OTHER CAUSES OF CHOLESTASIS JAUNDICE IN INFANTS

Aim: The aim of this study is to find out the cholestatic etiologies in infants and differences of clinical features, laboratory investigations between biliary atresia and other causes of cholestasis at Vietnam Children Hospital. Background: Cholestasis is defined as reduced bile formation or biliary flow. It results of varied causes. Early detection of biliary atresia is to intervene in time and have the best outcome. Patient and methods: In this retrospective study, 305 infants under 12 months of age with cholestasis were studied in Vietnam Children Hospital during 1/2017-7/2018. Demographic data, duration of jaundice, signs and symptoms as well as laboratory, imaging, liver biopsy and the causes of cholestasis were recorded, divided into 2 group BA and Non-BA. Results: 305 infants (194 boys, 111 girls) with cholestasis and mean age of 83,22±72,10 days were included in the study. The most common causes of cholestasis were idiopathic neonatal hepatitis (33,8%), biliary atresia (25,9%), cytomegalovirus infection (21,6%). In BA group, pale stool (100%), Hepatomegaly (98,7%); increasing less AST, ALT, more GGT level than Non-BA. Find out GGT cutoff &gt; 212,05 UI/l in diagnosing BA. Conclusion: Biliary atresia and idiopathic neonatal hepatitis are the most common causes of infantile cholestasis. Pale stool, hepatomegaly and GGT elevation &gt; 212,05 UI/l are the most reliable tests for diagnosing BA.&#x0D;

Positive association between a polymorphic locus near the LBX1 gene and predisposition of idiopathic scoliosis in Southeastern European population.

Idiopathic scoliosis (IS) is a common medical condition in children, characterized by three-dimensional spinal curve and strong evidence of genetic predisposition. The purpose of the present case-control study is to examine the association between the polymorphic variant rs11190870 (T/C), near the LBX1 gene, and IS predisposition in distinct subgroups based on age at onset, family history and gender. A total of 127 IS patients and 254 unrelated controls of Southeastern European descent were recruited. The genotyping was carried out by TaqMan real-time amplification technology. The results were analyzed by the Pearson's Chi-squared Test and the Fisher's Exact Test with a value of p less than 0.05 as statistically significant. The T allele and homozygous TT genotype were associated with a greater incidence of IS. Our results suggest that there is a genetic association with IS in adolescents, familial and non-familial cases, and in females. Larger case-control studies are necessary to examine the genetic factors of IS/AIS etiology in infants, juveniles and males. In conclusion, the molecular genetic identification of diagnostic and prognostic molecular markers would make an early treatment including minimally invasive procedures possible.

Hair tourniquet syndrome of toes and fingers in infants

ObjectiveHair tourniquet syndrome is an uncommon condition characterized by strangulation appendages by a hair or thread. The aim of this study was to evaluate the results of hair removal and antibiotic therapy in our patients with hair tourniquet syndrome. MethodsBetween January 2012 and August 2018, 16 patients (8 boys, 8 girls; mean age: 118.5 [range: 20 to 380] days) were treated surgically for hair tourniquet syndrome. All patients were treated surgically under local or general anesthesia in the pediatric emergency department or in the operating theater using magnifying loupes. The age, gender, affected fingers or toes and the affected sides of the patients and the duration of symptoms until presentation were recorded. ResultsA total of 24 toes and fingers were treated for hair tourniquet syndrome. The right side was affected in 12 patients, the left side was affected in three, and both sides in one. The second toe was affected in three patients, the third toe in eleven, the fourth in six, and the fifth in two patients. Both the thumb and the second finger were affected in one patient. The average duration of the symptoms (excessive crying, swelling, redness) was 1.5 (range: 1 to 2) days. All patients healed without any complications. ConclusionHair tourniquet syndrome should be kept in mind as an etiology in infants with toe and finger strangulation. These patients should be examined undressed. Immediate removal of hair is an effective treatment method to save appendage. Level of evidenceLevel IV, Therapeutic Study

Metagenomic analysis of the respiratory virome associated with acute respiratory illness of unknown etiology in infants

Metagenomic analysis of the respiratory virome associated with acute respiratory illness of unknown etiology in infants

Temporal lobe epilepsy in infants and children

Clinical expression of temporal lobe seizures is different with a more diverse and more extensive etiology in infants and children than it is in adults. It is dominated by cortical dysplasia, low-grade tumors and perinatal damage. Hippocampal sclerosis, although less frequent, exists in children usually as a dual pathology associated with ipsilateral neocortical lesions. The clinical semiology of temporal seizures is more varied, and sometimes misleading. Motor features including tonic, clonic or myoclonic behaviors, and infantile spasms predominate in infants. Classical complex partial seizures with behavioral arrest and automatisms, as well as lateralizing signs are rare and occur mostly with onset after the age of two years. Interestingly, aura, emotional, and autonomic signs seem to be independent on the brain maturation process. Moreover, the neuropsychological profile varies according to age of onset and duration, lateralization of the focus and etiology. Quality of care benefits from individual cognitive assessment for memory and emotional processes.

Combined endoscopic third ventriculostomy and choroid plexus cauterization as primary treatment for infant hydrocephalus: a prospective North American series.

Combined endoscopic third ventriculostomy with choroid plexus cauterization (ETV/CPC) enhances the likelihood of shunt freedom over ETV alone, and thus avoidance of shunt-related morbidity, in hydrocephalic infants. To date, virtually all published reports describe experiences in Africa, thus hampering generalization to other parts of the world. Here, the authors report the first North American prospective series of this combined approach to treat hydrocephalus of various etiologies in infants. A prospective series of 50 boys and 41 girls (mean and median ages 4.7 and 3.2 months, respectively) with hydrocephalus underwent ETV/CPC performed by the senior author at Boston Children's Hospital from August 2009 through March 2014. Success data were analyzed using the Kaplan-Meier method and Cox proportional hazards model. The 91 patients treated included those with aqueductal stenosis (23), myelomeningocele (23), posthemorrhagic hydrocephalus (25), Dandy-Walker complex (6), post-infectious hydrocephalus (6), and other conditions (8). Using Kaplan-Meier survival analysis, 57% of patients required no further hydrocephalus treatment at 1 year. Moreover, 65% remained shunt free to the limit of available follow-up (maximum roughly 4 years). A Cox proportional hazards model identified the following independent predictors of ETV/CPC failure: post-infectious etiology, age at treatment younger than 6 months, prepontine cistern scarring, and prior CSF diversion. Of patients with at least 6 months of follow-up, the overall ETV/CPC success at 6 months (59%) exceeded that predicted by the ETV Success Score (45%). Complications included 1 CSF leak and 1 transient syndrome of inappropriate antidiuretic hormone secretion, and there were no deaths. ETV/CPC is an effective, safe, and durable treatment for infant hydrocephalus in a North American population, with 1-year success rates similar to those reported in Africa and equivalent to those for primary shunt placement in North America. These findings underscore the need for prospective multicenter studies of the outcomes, quality of life, and economic impact of the procedure compared with primary shunt insertion.

Evaluation of Etiology in Infants with Recurrent Pneumonia and Chronic Stridor

Evaluation of Etiology in Infants with Recurrent Pneumonia and Chronic Stridor

Genome Sequences of Rhinovirus C Isolates from Wisconsin Pediatric Respiratory Studies

Human rhinovirus (RV) isolates from the RV-C species are recently discovered infectious agents that are closely linked to asthma and wheezing etiologies in infants. Clinical study samples collected at the University of Wisconsin–Madison describe 41 nearly complete genome sequences representing 21 RV-C genotypes.