Case Reports in Pediatrics最新文献

{"title":"Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene","authors":"M. Moreno-Risco, M. Méndez, María-Isabel Moreno-Carralero, A. Lopez-Moreno, José-Manuel Vagace-Valero, M. Morán-Jiménez","doi":"10.1155/2022/7743748","DOIUrl":"https://doi.org/10.1155/2022/7743748","url":null,"abstract":"Hemochromatosis type 2 or juvenile hemochromatosis has an early onset of severe iron overload resulting in organ manifestation such as liver fibrosis, cirrhosis, cardiomyopathy, arthropathy, hypogonadism, diabetes, osteopathic medicine, and thyroid abnormality, before age of 30. Juvenile hemochromatosis type 2a and 2b is an autosomal recessive disease caused by pathogenic variants in HJV and HAMP genes, respectively. We report a child with hepatic iron overload and family history of hemochromatosis. We aim to raise awareness of juvenile hemochromatosis, especially in families with a positive family history, as early diagnosis and treatment may prevent organ involvement and end-stage disease. The purpose of this study was to identify the gene variant that causes the disease. The genetic study was performed with a targeted gene panel: HFE, HJV, HAMP, TFR2, SLC40A1, FTL, and FTH1. We identified the variant c.309C > G (p.Phe103Leu) in the HJV gene in the homozygous state in the patient.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2022-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75629224","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":"The Challenges of Identifying Fibromyalgia in Adolescents","authors":"Elisha E Peterson, Caylynn Yao, S. Sule, J. Finkel","doi":"10.1155/2022/8717818","DOIUrl":"https://doi.org/10.1155/2022/8717818","url":null,"abstract":"Aim Fibromyalgia (FM) is a noninflammatory disorder of the nervous system characterized by widespread musculoskeletal pain and somatic complaints of at least 3 months duration. There are no current diagnostic criteria for fibromyalgia in children to guide clinicians in recognition, thus leading to many subspecialty referrals and extensive imaging and tests. The purpose of this retrospective review is to compare two diagnostic criteria for juvenile fibromyalgia. Methods A retrospective chart review of 20 children diagnosed with juvenile fibromyalgia from a singular pain physician practice was performed. Both the Yunus diagnostic criteria and the 2016 American College of Rheumatology (ACR) diagnostic criteria were applied and compared. Results 85% of patients met criteria for fibromyalgia under both criteria. 15% of patients met only ACR criteria as the Yunus criteria excluded those with underlying conditions. Of the children who fulfilled criteria with use of both diagnostic tools, this cohort reported a high somatic symptom burden as demonstrated by the ACR symptom severity scales of 12 and satisfaction of at least 4 Yunus and Masi minor criteria on average. Widespread pain was noted with an ACR Widespread Pain Index (WPI) of 7, and tender points were 4.8 on average across the cohort. Effective therapeutic regimens among patients varied widely from medical monotherapy to multimodal treatment. Patients presented with pain for 1.8 yrs on average prior to a diagnosis. All of the cohort had a normal laboratory evaluation; half the cohort received additional imaging and testing. Conclusion This case series suggests the need for an updated diagnostic tool for pediatric fibromyalgia to facilitate recognition and treatment.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2022-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77342795","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 “Boil” Being the Clue to Think beyond Typical Bacterial Pathogens in Community-Acquired Pneumonia","authors":"Jeanna Auriemma","doi":"10.1155/2022/8984170","DOIUrl":"https://doi.org/10.1155/2022/8984170","url":null,"abstract":"Empyema necessitans is an exceptionally rare complication of bacterial pneumonia in the pediatric population. It occurs when the infection extends from the lung parenchyma to the chest wall by forming a fistula, which leads to infection of the surrounding soft tissue. In this case, a 13-year-old boy is found to have empyema necessitans caused by Actinomyces meyeri, with a preceding clue to the diagnosis being that he was treated for a superficial chest wall abscess several weeks prior to developing significant respiratory symptoms. Providers should be aware of this entity as it requires obtaining cultures to identify the appropriate pathogen and avoid treatment failure as it has implications for antibiotic choice and length of therapy.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2022-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86304362","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":"New-Onset Henoch–Schonlein Purpura after COVID-19 Infection: A Case Report and Review of the Literature","authors":"Ashwag Asiri, Faris Alzahrani, S. Alshehri, Yossef Hassan AbdelQadir","doi":"10.1155/2022/1712651","DOIUrl":"https://doi.org/10.1155/2022/1712651","url":null,"abstract":"Extrapulmonary manifestations of COVID-19 infection include a wide spectrum of cutaneous, endocrine, and cardiovascular complications. We report three cases of new-onset Henoch–Schonlein purpura (HSP) in COVID-19 infected children that were diagnosed and treated in Abha Maternity and Children Hospital, Saudi Arabia, between 28th July 2020 and 10th August 2020. All three cases were males younger than 5 years of age that presented with Henoch–Schonlein purpura characteristic rash and arthralgia without a recent history of any infection, especially respiratory infections. They all tested positive for COVID-19. At the time of the admission, pediatric COVID-19 cases were managed conservatively and we ruled out any other diagnosis before establishing the diagnosis of Henoch–Schonlein purpura according to the clinical picture. The three boys responded significantly to prednisolone and achieved a rapid recovery. We present the clinical scenario and laboratory tests of these children along with pictures of the lesions detected in each case.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2022-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75689445","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":"Paroxysmal Tachycardia Diagnosed by ECG247 Smart Heart Sensor in a Previously Healthy Child","authors":"J. Jortveit, A. Früh, H. Odland","doi":"10.1155/2022/9027255","DOIUrl":"https://doi.org/10.1155/2022/9027255","url":null,"abstract":"Supraventricular tachycardia (SVT) is the most common symptomatic heart rhythm disorder in children and adolescents. ECG recordings of the heart rhythm during episodes is necessary for the diagnosis and for the selection of treatment. However, conventional long-term ECG recording systems may miss the diagnosis due to the disease's intermittent nature. Novel adhesive patch ECG monitors, like ECG247 Smart Heart Sensor, may represent new important diagnostic tools in children and adolescents with symptoms of heart rhythm disorders. We report a case of tachyarrhythmia in a previously healthy 12-year-old child.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2022-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73989538","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":"Pott's Puffy Tumor Presenting as Pyogenic Meningitis in an Infant","authors":"M. Faridi, S. Pandey, S. Shamsi","doi":"10.1155/2022/4732287","DOIUrl":"https://doi.org/10.1155/2022/4732287","url":null,"abstract":"Introduction. Pott's puffy tumor is characterized by the osteomyelitis of the frontal bone with underlying subperiosteal abscess, mostly occurring secondary to recurrent sinusitis or head trauma. Though it is a rare clinical entity in this antibiotic era, its occurrence mostly in the adolescent age group has now shown increased reporting lately in all age groups. Case Description. We describe here a case of a 4½-month-old female baby who presented to our hospital's Emergency Room with clinical features of pyogenic meningitis following aspiration of a midline frontal swelling. The infant presented with high-grade fever, 3-4 episodes of projectile vomiting, increased irritability, and refusal to breastfeeding than usual. This was accompanied by a history of a gradually increasing midline fluctuant erythematous swelling on her forehead extending to the left eye. Aspiration of the swelling was done a day before by a local general practitioner, following which she developed the above-mentioned features of pyogenic meningitis and was brought to the hospital the next day. Examination revealed a conscious, febrile, irritable child with bulging anterior fontanel and 101.4°F axillary temperature. Vital signs were within normal limits. CSF analysis was suggestive of pyogenic meningitis, and appropriate antibiotics were given. MRI showed frontal bone osteomyelitis with erosion of the bony plate and focal cerebritis. The condition turned out to be Pott's puffy tumor with pyogenic meningitis after detailed investigations. The infant was treated with appropriate antibiotics and other supportive therapeutic measures and discharged with the advice for further management in collaboration with otorhinolaryngologist.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2022-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73466280","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":"Hypertensive Crisis in a Pediatric Patient Experiencing Clonidine Withdrawal","authors":"Can Cao, M. Lorenz, Phillip Sojka, Allison W Brindle, L. Topor","doi":"10.1155/2022/9005063","DOIUrl":"https://doi.org/10.1155/2022/9005063","url":null,"abstract":"Background Clonidine, a central alpha-adrenoreceptor agonist, was initially developed as an antihypertensive. Though no longer commonly used for its original indication due to rebound hypertension after discontinuation, it is currently widely prescribed as a treatment for many pediatric indications including sleep disorders, behavioral concerns, and attention deficit hyperactivity disorder. Case Report. We describe a girl who developed prolonged symptoms of clonidine withdrawal, including hypertension and elevated serum metanephrines. Discussion. Clonidine withdrawal in pediatric patient can present with hypertensive urgency and other signs of sympathetic stimulation. Withdrawal can also lead to dramatic elevation in serum metanephrines. Treatment with a clonidine taper will reduce development of withdrawal symptoms. Conclusion Given the rise in clonidine use in pediatric patients, clinicians should be aware of the risk of clonidine withdrawal and how to recognize and avoid its development.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2022-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89865383","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":"Apnea in a Two-Week-Old Infant Infected with SARS-CoV-2 and Influenza B","authors":"Radhika Maddali, K. Cervellione, L. Lew","doi":"10.1155/2022/2969561","DOIUrl":"https://doi.org/10.1155/2022/2969561","url":null,"abstract":"Paucity of data exists on presenting symptoms and outcomes in infants with COVID-19. Reports of coinfection with COVID-19 and influenza B are sparse in the literature. Coinfection was uncovered during evaluation of neonatal apnea. Apnea has been reported in infants with SARS-CoV-2 infection, though it is rare. We describe a 2-week-old healthy term infant presenting with apnea and coinfection. The infant had a mild clinical course and complete recovery.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2022-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77315980","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":"Basilar Artery Vasospasm as a Cause of Post-Operative Cerebellar Mutism Syndrome.","authors":"Marwa Deghedy,&nbsp;Barry Pizer,&nbsp;Ram Kumar,&nbsp;Conor Mallucci,&nbsp;Shivaram Avula","doi":"10.1155/2022/9148100","DOIUrl":"https://doi.org/10.1155/2022/9148100","url":null,"abstract":"<p><p>Post-operative cerebellar mutism syndrome (CMS), also known as posterior fossa syndrome (PFS), is a well-recognized and frequent complication of surgery for posterior fossa tumours in children and young people. Its incidence varies between 8 and 31%, and the pathophysiological mechanisms of delayed onset and resolution of cerebellar mutism are not clear, but axonal damage, oedema, and perfusion defects may be involved. Magnetic resonance imaging has failed to reveal a universal anatomical substrate or a single definite mechanism of injury. We present a case of 16-year-old boy who developed CMS three days after resection of a medulloblastoma, a primary fourth ventricular tumour. Early post-operative imaging showed bleeding in the posterior fossa which required evacuation. CT angiography seven days after surgery demonstrated basilar artery vasospasm. Magnetic resonance brain angiography confirmed persistent narrowing of a segment of the basilar artery closely related to a left cerebellopontine (CP) angle peri-operative haematoma. The patient was treated with nimodipine and hypervolemia. The patient started vocalisation without speech five days later with reversal of radiological lesions. Further recovery of post-operative neurological deficits occurred over a protracted period of several months. This case represents a rare cause of post-operative CMS, with rapid initial recovery that occurred after specific treatment directed at the cause. To our knowledge, this is the first reported case showing mutism associated with basilar artery vasospasm with imaging evidence. This case may suggest the need to undertake urgent vascular imaging in selected cases of post-operative CMS.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2022-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8853815/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39940407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute Disseminated Encephalomyelitis Presenting as Bilateral Ptosis in a Sri Lankan Child.","authors":"Ishara Kumarasiri,&nbsp;Ruwan Samararathna,&nbsp;Udara Sandakelum,&nbsp;Oshanie Muthukumarana,&nbsp;Reha Balasubramaniam,&nbsp;Sachith Mettananda","doi":"10.1155/2022/5492155","DOIUrl":"https://doi.org/10.1155/2022/5492155","url":null,"abstract":"<p><strong>Introduction: </strong>Acute disseminated encephalomyelitis is a rare inflammatory demyelinating disease characterized by acute onset polyfocal neurological deficits associated with encephalopathy. It commonly presents with fever, meningism, seizures, ataxia, motor deficits, and bladder dysfunction. Although cranial neuropathies, including optic neuritis and facial nerve palsies, have previously been reported, children presenting with bilateral ptosis is extremely rare. Here, we report a 3-year-old child with acute disseminated encephalomyelitis presenting with acute onset bilateral ptosis due to involvement of the single central levator subnucleus of the oculomotor nerve. <i>Case Presentation</i>. A 3-year-old Sri Lankan boy presented with drooping of the upper eyelids for three days and unsteady gait for two days. He did not have seizures, blurring of vision, limb weakness, swallowing or breathing difficulties, or bladder dysfunction. On examination, he had bilateral ptosis, gait ataxia, and dysmetria. His vision, eye movements, and examination of other cranial nerves were normal. MRI brain revealed high signal intensities involving the subcortical white matter of parietal and occipital lobes, midbrain in the area of single central levator subnucleus of the oculomotor nerve, cerebellar vermis, and right cerebellar hemisphere. Based on the clinical features suggesting polyfocal neurological involvement of the midbrain and cerebellum and characteristic MRI findings, the diagnosis of acute disseminated encephalomyelitis was made. He responded well and rapidly to high-dose intravenous methylprednisolone and showed a complete clinical and radiological recovery.</p><p><strong>Conclusion: </strong>This case report describes a rare presentation of acute disseminated encephalomyelitis, bilateral ptosis due to involvement of the single central levator subnucleus of the oculomotor nerve. It highlights that the presenting manifestations of acute disseminated encephalomyelitis can be subtle and vary; however, timely diagnosis and treatment result in complete recovery.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2022-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8847039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39641778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}