International Journal of Clinical Pediatrics最新文献

{"title":"Asymptomatic Bernard-Soulier Syndrome With a Novel Mutation","authors":"Mahmoud Ahmed, Muzammil Hafeez, Anwar Khan, M. Bolkini, N. Ambadi, A. Rana","doi":"10.14740/ijcp342","DOIUrl":"https://doi.org/10.14740/ijcp342","url":null,"abstract":"Bernard-Soulier syndrome (BSS) is inherited as an autosomal recessive genetic disorder. It is characterized with thrombocytopenia and giant platelets; and various degrees of BSS can be caused by a number of homozygous or compound heterozygous mutations of genes coding for components of the platelet receptor GPIbIX. Here we present a novel mutation occurring in a family causing BSS without any symptoms. Int J Clin Pediatr. 2020;9(1):16-19 doi: https://doi.org/10.14740/ijcp342","PeriodicalId":13773,"journal":{"name":"International Journal of Clinical Pediatrics","volume":"46 1","pages":"16-19"},"PeriodicalIF":0.0,"publicationDate":"2020-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87909388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Continuous Positive Airway Pressure Belly Syndrome: Challenges of a Changing Paradigm","authors":"Archana Priyadarshi, M. Hinder, N. Badawi, M. Luig, M. Tracy","doi":"10.14740/IJCP352","DOIUrl":"https://doi.org/10.14740/IJCP352","url":null,"abstract":"In extreme preterm infants, early use of continuous positive airway pressure (CPAP) for respiratory support reduces the incidence of chronic lung disease. However, as a sequel, inadvertent passage of air into the gastrointestinal tract leads to abdominal distension often with visibly dilated loops. The first description of “CPAP belly syndrome” in 1992, originates from the study in premature infants weighing less than 1,000 g and managed on nasal CPAP. The description of this phenomenon included benign episodic abdominal distension, with no associations to feed intolerance, and no radiological evidence of bowel wall thickening, pneumatosis or free air. With improving perinatal care, lesser gestational age infants are increasingly managed on early CPAP with resultant more frequent occurrence of CPAP belly syndrome. When extreme preterm infants on CPAP develop tense, marked abdominal distension, clinical decisions to cease feeds, administer empiric antibiotics and perform plain abdominal radiographs are all justified to screen for potentially serious causes. With rampant use of non-invasive respiratory support in extreme preterm infants, the occurrence of severe CPAP belly syndrome now extends to include clinical scenario mimicking a “necrotizing enterocolitis (NEC) scare”. We present the case of an extreme preterm infant with severe CPAP belly syndrome that required rescue intubation due to a massively distended abdomen. The emergency management included change to invasive ventilation and exclusion of serious intestinal conditions such as NEC. In retrospect, the life-threatening marked abdominal distension was due to severe CPAP belly syndrome, contrary to its well-recognized benign description, three decades ago. The clinical paradigm of CPAP belly syndrome is evolving, and in its severe form in extreme preterm infants, warrants vigilant monitoring to differentiate it from severe progressive intestinal conditions, such as NEC. Further research is required to describe its causes, associated morbidities and the need to evaluate the utility of other diagnostic modalities to reassure clinicians. Int J Clin Pediatr. 2020;9(1):9-15 doi: https://doi.org/10.14740/ijcp352","PeriodicalId":13773,"journal":{"name":"International Journal of Clinical Pediatrics","volume":"43 1","pages":"9-15"},"PeriodicalIF":0.0,"publicationDate":"2020-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74242218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bone Marrow Necrosis in a Child With Sepsis-Induced Macrophage Activation Syndrome","authors":"B. Parajuli, Jeyaraj Munusamy, A. Baranwal, Prashant Sharma, M. Jayashree","doi":"10.14740/IJCP346","DOIUrl":"https://doi.org/10.14740/IJCP346","url":null,"abstract":"Bone marrow necrosis (BMN) is a rare condition, mostly described with hematological malignancies. Association of BMN with sepsis-induced macrophage activation syndrome (MAS) is rarely reported in the literature. Recently, we managed a 10-year-old girl with Staphylococcus aureus sepsis and MAS who had extensive BMN. Patient initially improved with antibiotics, source control, supportive care and immunomodulatory therapies (intravenous immunoglobulin and methylprednisolone). However, she succumbed to transfusion-related acute lung injury. Sepsis, MAS and BMN seem to represent increasing levels of immune dysregulation, hypercytokinemia and hyperinflammation. Int J Clin Pediatr. 2020;9(1):24-29 doi: https://doi.org/10.14740/ijcp346","PeriodicalId":13773,"journal":{"name":"International Journal of Clinical Pediatrics","volume":"39 1","pages":"24-29"},"PeriodicalIF":0.0,"publicationDate":"2020-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86664309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lemierre’s Syndrome: A Case Report of a Child With Partial Treatment of Streptococcal Pharyngitis","authors":"J. Pryor, Priya G. Sharma, Rachel A. Reedy","doi":"10.14740/IJCP347","DOIUrl":"https://doi.org/10.14740/IJCP347","url":null,"abstract":"Lemierre’s syndrome (LS) is a complication of acute oropharyngeal infections leading to septic thrombophlebitis of the internal jugular vein. Since initial discovery, the incidence of LS has decreased due to development of modern antibiotics. In our case report, a child with partially treated streptococcal pharyngitis presented with neck pain, neck swelling and limited range of motion of her neck. Although the patient was well appearing and with an atypical presentation of LS, the diagnosis of LS was confirmed with a computed tomography (CT). As a result, appropriate treatment was quickly initiated to prevent further complication and provide a favorable outcome for the patient. Typical presenting symptoms of LS include fever, dysphagia, neck pain and arthralgia that should lead to the ordering of appropriate laboratory studies and imaging. CT imaging aids in both the diagnosis and management of LS. The use of anticoagulation therapy remains controversial in the management of LS. In addition, there are no generalized guidelines for the treatment of LS, but antibiotic therapy directed at anaerobic coverage can significantly reduce morbidity and mortality in otherwise healthy children. Due to potentially fatal complications, it is crucial to keep LS on the differential diagnosis list in pediatric patients with fever, neck pain, neck swelling, or dysphagia in the week following an oropharyngeal infection. Int J Clin Pediatr. 2020;9(1):4-8 doi: https://doi.org/10.14740/ijcp347","PeriodicalId":13773,"journal":{"name":"International Journal of Clinical Pediatrics","volume":"35 1","pages":"4-8"},"PeriodicalIF":0.0,"publicationDate":"2020-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77732675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute Disseminated Encephalomyelitis With Brain Abscess in a 3-Year-Old Immunocompetent Child: A Case Report","authors":"Pamela Cherfan, Marianne Touma Boulos, Doris Elia, C. Geagea, Patricia Kaldany","doi":"10.14740/ijcp339","DOIUrl":"https://doi.org/10.14740/ijcp339","url":null,"abstract":"Acute disseminated encephalomyelitis (ADEM) is a monophasic immune-mediated inflammatory demyelinating condition that predominately affects the white matter of the brain and spinal cord. On magnetic resonance imaging (MRI), lesions are usually diffuse, poorly demarcated, and demonstrate regions of high signal on T2 with surrounding edema. On the other hand, intracranial abscesses are uncommon, serious and life-threatening infections. On MRI, restricted water diffusion, in ring-enhancing lesions, is typical of brain abscesses. We report a challenging case of a 3-year-old boy presenting with fever, severe headache, somnolence and neck stiffness. The cerebrospinal fluid (CSF) showed high white blood cell count and the brain MRI showed two lesions evoking abscesses with multiple areas of vasogenic edema. Six days later and due to the persistence of the somnolence with a gait disturbance despite antibiotic therapy, a follow-up MRI showed a better delineation of the vasogenic edema that now evokes ADEM lesions with regression of the two lesions evoking abscesses. Diagnostic considerations were brainstem abscesses or ADEM or an association between them. However, no association between these two entities has been reported in the literature. Because first MRI lesions were typical of abscesses, the diagnosis of an association between brain abscesses and ADEM was retained. The patient was treated with high doses of steroids that drastically and promptly improved his condition and the antibiotic therapy was continued for 4 weeks despite the absence of bacterial growth on CSF culture. In conclusion, we report here a first case of an association between brain abscesses and ADEM in a child with a good evolution after treatment. The differential diagnosis could be atypical MRI images of ADEM that resembled abscesses. Int J Clin Pediatr. 2019;8(2):41-44 doi: https://doi.org/10.14740/ijcp339","PeriodicalId":13773,"journal":{"name":"International Journal of Clinical Pediatrics","volume":"37 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85808637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcomes of Newborn Infants With Pulmonary Hypertension Treated With Oral Sildenafil","authors":"Manar Al-lawama, E. Badran, A. Abdelfattah, Rama Jaddalla, Hala Ahmad Almahameed, I. AL-Ammouri","doi":"10.14740/ijcp349","DOIUrl":"https://doi.org/10.14740/ijcp349","url":null,"abstract":"Background: Persistent pulmonary hypertension of the newborn (PPHN) is a disease with a high mortality rate. The incidence of PPHN is approximately 0.8 per 1,000 live births. Inhaled nitric oxide remains the treatment of choice, but in areas where inhaled nitric oxide is not available, sildenafil citrate is considered the best alternative vasodilator. We conducted this study to investigate the efficacy of oral sildenafil in treating neonatal pulmonary hypertension. Methods: This is a retrospective study of all newborns diagnosed with PPHN who received oral sildenafil over an 8-year period. Results: A total of 27 newborns were included in the study. The most common primary disease was respiratory distress syndrome. The mortality rate was 44.4%; all newborns with cardiovascular shock at presentation died. Conclusions: Oral sildenafil is a promising medication that can help neonates with mild to moderate PPHN in hospital units where inhaled nitric oxide is not available. Development of a treatment protocol to standardize the care of such infants will positively impact outcomes. Int J Clin Pediatr. 2019;8(2):27-31 doi: https://doi.org/10.14740/ijcp349","PeriodicalId":13773,"journal":{"name":"International Journal of Clinical Pediatrics","volume":"56 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90911154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Encephalitis Related to Human Parechovirus Type 3","authors":"Wataru Miura, Emiko Momoki, T. Fuchigami, Y. Kasuga, K. Kimura, Kazumasa Fuwa, Y. Fujita, H. Ushijima, I. Morioka","doi":"10.14740/ijcp333","DOIUrl":"https://doi.org/10.14740/ijcp333","url":null,"abstract":"Human parechoviruses belong to the Picornaviridae family and are classified into 17 genotypes. Recently, it has been reported that human parechovirus genotype 3 is an important cause of severe infections, including sepsis-like illness and encephalitis, especially in newborns and infants younger than 3 months. There are also reports that human parechovirus genotype 3 infections with central nervous system symptoms lead to high rates of neurological sequelae and death. Here, we report a case of a previously healthy 1-month-old girl who developed encephalitis related to human parechovirus genotype 3 and had a favorable outcome. The patient presented septicemic symptoms, including fever, tachycardia, tachypnea with retractions and seizures without an elevated inflammatory response. She lacked cerebrospinal fluid pleocytosis but had hypercytokinemia. Brain magnetic resonance imaging and electroencephalography showed abnormal findings. Together, these findings strongly suggested acute encephalopathy. She underwent emergency intubation for respiratory failure and mechanical ventilation was started. Intravenous phenobarbital injection was performed to prevent convulsion. She was treated using intravenous immunoglobulin with methylprednisolone pulse therapy. As of 2 years after discharge, her growth development is equivalent to her age and she has had no clinical epileptic seizures. In this case, human parechovirus genotype 3 was detected from pharyngeal swabs, stool, cerebrospinal fluid and blood by polymerase chain reaction assay. The patient was diagnosed definitively with encephalitis related to human parechovirus genotype 3. The symptoms that we observed should be considered for the differential diagnosis of human parechovirus infection. When a patient is suspected of having encephalitis related to human parechovirus, treatment including intravenous immunoglobulin and corticosteroid must be started as soon as possible to prevent neurodevelopmental sequelae. Int J Clin Pediatr. 2019;8(2):37-40 doi: https://doi.org/10.14740/ijcp333","PeriodicalId":13773,"journal":{"name":"International Journal of Clinical Pediatrics","volume":"31 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78851451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A 2-Year-Old Boy With Refractory Kawasaki Disease Who Developed a Giant Aneurysm After Successful Treatment With Infliximab","authors":"Saki Endo, M. Kimura, Hisao Yaoita, C. Ota, Ryouichi Oonuma, S. Kitaoka","doi":"10.14740/ijcp345","DOIUrl":"https://doi.org/10.14740/ijcp345","url":null,"abstract":"Kawasaki disease (KD) is the leading cause of systemic vasculitis syndrome in infants and in young children, although its cause has still not been elucidated. Coronary aneurysm (CA) is a major and important complication of KD. Patients resistant to intravenous immunoglobulin (IVIG) treatment are at a high risk of CA. Infliximab (IFX) is a chimeric monoclonal antibody that specifically binds to tumor necrosis factor-alpha (TNF-α) and has been successfully used in some cases of IVIG-refractory KD. However, optimal timing for the administration of IFX has not yet been determined. We present a case of a 2-year-old boy with IVIG-refractory KD who developed a giant right coronary artery (RCA) aneurysm after successful treatment with IFX. Treatment with IVIG (2 g/kg), prednisolone (PSL, 2 mg/kg/day), and aspirin (50 mg/kg/day) was initiated on day 2 because of the fulfillment of KD criteria. Additional IVIG (2 g/kg) and ulinastatin (20,000 U/kg) treatment on day 5 and intravenous administration of IFX (5 mg/kg) on day 9 effectively lowered the patient’s fever and improved laboratory data. However, the RCA continued to balloon into a giant CA, from 7.3 mm on day 9 to 14.3 mm in diameter at 2 months. IFX is one treatment option for IVIG-refractory KD. However, the timing and indication of IFX treatment should be carefully determined. Int J Clin Pediatr. 2019;8(2):45-50 doi: https://doi.org/10.14740/ijcp345","PeriodicalId":13773,"journal":{"name":"International Journal of Clinical Pediatrics","volume":"34 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73794929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Profile of Childhood Epilepsies and Syndromes Seen in an Electrophysiology Laboratory in Southeast Nigeria","authors":"C. C. Ogoke, W. Igwe, Ifeanyi Innocent Ike, E. Ossai","doi":"10.14740/ijcp344","DOIUrl":"https://doi.org/10.14740/ijcp344","url":null,"abstract":"Background: Epilepsy and other seizure disorders are highly prevalent in resource-poor countries. Electroencephalogram (EEG) plays an invaluable role in differentiating seizure types, epilepsy syndromes and choice of appropriate anti-epileptic drugs. This is critical for effective management of epilepsies including their prognostication. The profile of childhood epilepsies in our locality is unknown. This study was therefore carried out to ascertain the prevalent electro-clinical syndromes and epilepsy types, etiological factors and co-morbid conditions in children who had EEG in Owerri, Southeast Nigeria. Methods: The clinical data including the Basic Data Sheet and EEG records of all children with epilepsy seen between January 2017 and December 2018 at the EEG Unit/Child Neurology Clinic of Mother Healthcare Diagnostics & Hospital, Owerri were retrospectively reviewed. Relevant data from each patient’s clinical history, physical examination, investigation findings and EEG diagnosis of seizure type and epilepsy syndrome were extracted and recorded. Results: Out of 97 children with epilepsy, 57 were males and 40 were females giving an male/female (M/F) ratio of 1.4:1. Focal epilepsy (31%) was the most frequent epilepsy type, while benign rolandic epilepsy (BRE) (14%) was the most common epilepsy syndrome seen. West syndrome was the second most prevalent epilepsy syndrome. Epilepsy was of genetic etiology in 48 (50%) and 22 (23%) had a history of severe perinatal asphyxia. No co-morbidity was detected in 70 (72%) patients but among those with co-morbidity, communication disorder (12.4%) was the most frequent. Conclusions: Focal epilepsies and syndromes of genetic etiology were the more prevalent epilepsy types and syndromes in our locality. Majority of the children had no co-morbid conditions but most of those with co-morbidity would require speech therapy. Epileptic encephalopathies were also frequent and this underscores the need to prevent severe perinatal asphyxia and central nervous system (CNS) infections. Int J Clin Pediatr. 2019;8(2):32-36 doi: https://doi.org/10.14740/ijcp344","PeriodicalId":13773,"journal":{"name":"International Journal of Clinical Pediatrics","volume":"23 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72790214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Ambiguous Rash in an 11-Year-Old Boy","authors":"Daniel R. O’Neill, Rachel A. Reedy","doi":"10.14740/IJCP334","DOIUrl":"https://doi.org/10.14740/IJCP334","url":null,"abstract":"The varicella zoster virus is known for two distinct disease states, the primary varicella zoster virus and herpes zoster. Children who are vaccinated for varicella have a lower incidence of developing herpes zoster than those who have acquired the varicella virus. Regardless, vaccinated children are still at risk for developing herpes zoster and the diagnosis should be considered in patients with a clinical presentation of vesicular and erythematous lesions. An 11-year-old boy, with no significant past medical history, presented to his primary care physician for a rash on his lower back. A thorough history of possible contact exposures was ruled out and further review showed that the boy was up to date on all vaccines. The combination of his physical symptoms and appearance of the rash prompted a culture to be sent to the lab. These results returned positive for varicella zoster DNA on the corresponding polymerase chain reaction (PCR) and proper treatment was initiated. The manifestation of herpes zoster can vary in appearance and does not always present in a standard dermatomal pattern. When clinical diagnosis seems vague, pattern recognition of the distinct vesicular rash shared with a high index of suspicion due to associated symptoms should prompt the culturing of a vesicle for diagnosis of herpes zoster via DNA PCR. Early detection will help hasten appropriate treatment and education to reduce further spread of the virus. Int J Clin Pediatr. 2019;8(1):19-21 doi: https://doi.org/10.14740/ijcp334","PeriodicalId":13773,"journal":{"name":"International Journal of Clinical Pediatrics","volume":"12 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79703782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}