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Post COVID-19 Lymphocytic Hypophysitis: A Rare Presentation 新冠肺炎后淋巴细胞性垂体炎：罕见表现
Child neurology open Pub Date : 2022-05-01 DOI: 10.1177/2329048X221103051
Meha Joshi, S. Gunawardena, A. Goenka, E. Ey, Gogi Kumar
{"title":"Post COVID-19 Lymphocytic Hypophysitis: A Rare Presentation","authors":"Meha Joshi, S. Gunawardena, A. Goenka, E. Ey, Gogi Kumar","doi":"10.1177/2329048X221103051","DOIUrl":"https://doi.org/10.1177/2329048X221103051","url":null,"abstract":"Introduction: Lymphocytic hypophysitis (LH) is a rare autoimmune disorder involving the destruction of the anterior pituitary due to lymphocytic infiltration. The disease shows a female predominance, commonly affecting women during late pregnancy into the postpartum period. The etiology of LH has not been well established and is presumed to be autoimmune based on the histopathological findings of lymphocytic infiltration and postpartum cases. Lymphocytic hypophysitis has yet to be studied in the context of a patient status post-recovery from COVID-19. Since the initial outbreak, additional information regarding the symptoms and outcomes has emerged on the virus's effects on the nervous system. Case: We present a novel case of post-COVID lymphocytic hypophysitis in a pediatric patient at Dayton Children's Hospital. An 18-year-old previously healthy girl presented to the emergency department (ED) with acute onset headache and dizziness for 5 days. She had a history of symptomatic COVID-19 three weeks prior to the onset of current symptoms. Contrast enhanced magnetic resonance imaging (MRI) of the brain revealed diffuse thickening and enlargement of the infundibulum with homogenous contrast enhancement of the hypophyseal axis. Based on the suspicion for lymphocytic hypophysitis, she was started on Methylprednisolone 250 mg IV Q6hrs on day 1-3. Symptomatic clinical improvement was seen on day 3 with a significant decrease in the intensity of the headache. Conclusion: The case illustrates the varied presentation and neurological sequalae associated with the COVID-19 virus. The case described here is the first ever reported post-COVID manifestation of lymphocytic hypophysitis.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46897692","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}
引用次数: 9
A Case Report of Topiramate for Severe Breath Holding Spells in a Teenage Boy with Pitt-Hopkins Syndrome. 托吡酯治疗一名患有Pitt-Hopkins综合征的青少年男孩严重屏气的病例报告
Child neurology open Pub Date : 2022-04-13 eCollection Date: 2022-01-01 DOI: 10.1177/2329048X221093172
Megan Bone, Kimberly Goodspeed
{"title":"A Case Report of Topiramate for Severe Breath Holding Spells in a Teenage Boy with Pitt-Hopkins Syndrome.","authors":"Megan Bone, Kimberly Goodspeed","doi":"10.1177/2329048X221093172","DOIUrl":"10.1177/2329048X221093172","url":null,"abstract":"<p><p>Pitt-Hopkins syndrome is a rare genetic neurodevelopmental disorder characterized by intellectual disability, delayed motor development, and absent speech. Patients often show symptoms of respiratory dysrhythmia, including episodes of hyperpnea followed by apnea with cyanosis. These spells occur while awake and do not have ictal correlate on electroencephalogram (EEG). The episodes can become quite frequent and can be challenging to treat. We present a case of a teenage patient with Pitt-Hopkins syndrome who had very frequent apneic spells that responded well to treatment with topiramate after limited response to acetazolamide.</p>","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"9 1","pages":"2329048X221093172"},"PeriodicalIF":0.0,"publicationDate":"2022-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9016566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41591044","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}
引用次数: 0
Characteristic Neuro-Linguistic Styles in Young Arabic Speaking Children Diagnosed with ASD. 诊断为ASD的年轻阿拉伯语儿童的特征神经语言风格
Child neurology open Pub Date : 2022-03-04 eCollection Date: 2022-01-01 DOI: 10.1177/2329048X221080271
Gary Diamond, Eman Badir, Shelly Almog, Gumma Badir, Labwa Jaoussy, Ashraf Akawi, Lutfi Jaber
{"title":"Characteristic Neuro-Linguistic Styles in Young Arabic Speaking Children Diagnosed with ASD.","authors":"Gary Diamond, Eman Badir, Shelly Almog, Gumma Badir, Labwa Jaoussy, Ashraf Akawi, Lutfi Jaber","doi":"10.1177/2329048X221080271","DOIUrl":"10.1177/2329048X221080271","url":null,"abstract":"<p><p>Evaluations of all Arabic speaking children age 3-9.0 years with significant speech delays or impairments, referred to a community based, child development center in the public health care system during a 5-year period were reviewed. Use of an inordinate degree of words and expressions in Fossha version of classical Arabic, mainly used in the media, children's literature and formalized venues, as well as in English, was highly associated with ASD, especially among those who were both more intelligent (IQ> 70), as well as older (greater than 4 years), (Pearson 7.29, Fisher 2-tailed test, p = 0.015). The use of \"out of context\" speech embedded in ordinary Arabic vernacular was associated with a higher degree of speech stereotypy (p < 0.001) among children with ASD, and unrelated statistically to the number of hours of screen viewing time, jargoning or associative speech. Idiosyncratic speech choices reflect neuro-linguistic mechanisms in social communication- impaired youngsters.</p>","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":" ","pages":"2329048X221080271"},"PeriodicalIF":0.0,"publicationDate":"2022-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8951048/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46750515","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}
引用次数: 0
Bilateral Ptosis, Zosteriform Rash and Flaccid Bladder in a 10-Year-old boy. 10岁男童双侧上睑下垂、带状疱疹样皮疹及膀胱松弛。
Child neurology open Pub Date : 2022-02-11 eCollection Date: 2022-01-01 DOI: 10.1177/2329048X221079429
Sara Adducchio, Irma Reyes, Mahesh Chikkannaiah, Matthew Rasch, Gogi Kumar
{"title":"Bilateral Ptosis, Zosteriform Rash and Flaccid Bladder in a 10-Year-old boy.","authors":"Sara Adducchio,&nbsp;Irma Reyes,&nbsp;Mahesh Chikkannaiah,&nbsp;Matthew Rasch,&nbsp;Gogi Kumar","doi":"10.1177/2329048X221079429","DOIUrl":"https://doi.org/10.1177/2329048X221079429","url":null,"abstract":"<p><p>We present a case report of a 10-year-old completely immunized boy presenting with a 2-week history of bilateral eyelid drooping, fatigue followed by bladder and bowel paralysis. This was followed by the appearance of a vesicular painful and itchy rash which directed further diagnosis and treatment as it was consistent with a varicella reactivation rash. This case is a very important addition to the current body of literature on varicella-related neurological complications. It outlines that varicella reactivation can present in completely vaccinated, immunocompetent young children as a neurological syndrome affecting the autonomic nervous system primarily and the rash can occur a few weeks later after presentation of the neurological symptoms.</p>","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":" ","pages":"2329048X221079429"},"PeriodicalIF":0.0,"publicationDate":"2022-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7b/61/10.1177_2329048X221079429.PMC8841934.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39638533","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}
引用次数: 0
Anything But Typical. 绝非典型。
Child neurology open Pub Date : 2022-02-08 eCollection Date: 2022-01-01 DOI: 10.1177/2329048X221077775
Xinran Maria Xiang
{"title":"Anything But Typical.","authors":"Xinran Maria Xiang","doi":"10.1177/2329048X221077775","DOIUrl":"https://doi.org/10.1177/2329048X221077775","url":null,"abstract":"<p><p>A graduating child neurology resident reflects upon how her first neurology \"patient\" single-handedly taught her an entire textbook worth of knowledge and became the guiding force that led her to leave general pediatrics.</p>","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":" ","pages":"2329048X221077775"},"PeriodicalIF":0.0,"publicationDate":"2022-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/47/ed/10.1177_2329048X221077775.PMC8829715.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39792277","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}
引用次数: 1
Use of Dalfampridine in a Young Child with Episodic Ataxia Type 2. 达福普定在2型发作性共济失调患儿中的应用。
Child neurology open Pub Date : 2022-02-01 eCollection Date: 2022-01-01 DOI: 10.1177/2329048X221075447
Emily Malamud, Scott I Otallah
{"title":"Use of Dalfampridine in a Young Child with Episodic Ataxia Type 2.","authors":"Emily Malamud,&nbsp;Scott I Otallah","doi":"10.1177/2329048X221075447","DOIUrl":"https://doi.org/10.1177/2329048X221075447","url":null,"abstract":"<p><p>Episodic ataxia type 2 (EA2) is a rare autosomal dominant disorder associated with mutations of the <i>CACNA1A</i> gene.<sup>1</sup> Because there is no curative therapy available, EA2 is typically managed symptomatically. First line treatment has typically been with acetazolamide.<sup>2</sup> Dalfampridine has also been noted to decrease the frequency and duration of ataxic attacks in patients ranging in age from adolescence through adulthood.<sup>3, 4</sup> The efficacy and dosing of dalfampridine has not yet been studied in younger pediatric populations. The lack of published experience in younger children can and has led to these patients going without potentially safe and effective treatment. Thus, we describe an 8-year-old girl with EA2 and a confirmed <i>CACNA1A</i> gene mutation whose symptoms had been previously unrelieved by acetazolamide. She was subsequently trialed on dalfampridine and experienced symptomatic relief at a dose of 0.3 mg/kg.</p>","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":" ","pages":"2329048X221075447"},"PeriodicalIF":0.0,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2e/ed/10.1177_2329048X221075447.PMC8811424.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39894932","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}
引用次数: 0
A Pediatric Case of Sensory Predominant Guillain-Barré Syndrome Following COVID-19 Vaccination. 小儿COVID-19疫苗接种后出现感觉显性格林-巴罗综合征1例
Child neurology open Pub Date : 2022-01-25 eCollection Date: 2022-01-01 DOI: 10.1177/2329048X221074549
Yunsung Kim, Zahra Zhu, Puneet Kochar, Patrick Gavigan, Divpreet Kaur, Ashutosh Kumar
{"title":"A Pediatric Case of Sensory Predominant Guillain-Barré Syndrome Following COVID-19 Vaccination.","authors":"Yunsung Kim,&nbsp;Zahra Zhu,&nbsp;Puneet Kochar,&nbsp;Patrick Gavigan,&nbsp;Divpreet Kaur,&nbsp;Ashutosh Kumar","doi":"10.1177/2329048X221074549","DOIUrl":"https://doi.org/10.1177/2329048X221074549","url":null,"abstract":"<p><p>Over six billion doses of Coronavirus Disease 2019 (COVID-19) vaccines have been administered worldwide. Amidst the global COVID-19 vaccination campaign, vaccine-related side effects are of ongoing concern and investigation. According to the Centers for Disease Control and Prevention (CDC) and the United States Department of Health and Human Services, three main conditions in adults have surfaced in association with receiving the COVID-19 vaccines. These include thrombosis with thrombocytopenia syndrome (TTS), a rare syndrome involving venous or arterial thrombosis and thrombocytopenia, Guillain-Barre syndrome (GBS), and myocarditis. While a number of GBS cases in adults have been published, to our knowledge, only one pediatric case of COVID-19 vaccine-related GBS has been reported. Herein we describe a case of sensory predominant GBS following the Pfizer-BioNTech COVID-19 vaccine in a 16-year-old female presenting with bilaterally ascending upper and lower extremity numbness and paresthesia.</p>","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":" ","pages":"2329048X221074549"},"PeriodicalIF":0.0,"publicationDate":"2022-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/68/0e/10.1177_2329048X221074549.PMC8793378.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39873087","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}
引用次数: 10
Two Children with Early-Onset Strokes and Intractable Epilepsy, Both with CACNA1A Mutations 2例早发性中风和顽固性癫痫患儿，均伴有CACNA1A突变
Child neurology open Pub Date : 2022-01-01 DOI: 10.1177/2329048X221094977
Kristen N. Bolte, Melissa Assaf, Tamara Zach, Shubhangi Peche
{"title":"Two Children with Early-Onset Strokes and Intractable Epilepsy, Both with CACNA1A Mutations","authors":"Kristen N. Bolte, Melissa Assaf, Tamara Zach, Shubhangi Peche","doi":"10.1177/2329048X221094977","DOIUrl":"https://doi.org/10.1177/2329048X221094977","url":null,"abstract":"Background: Mutations in the CACNA1A gene have been associated phenotypically with Familial Hemiplegic Migraine Type 1, Episodic Ataxia Type 2, Idiopathic Generalized Epilepsy, and Developmental and Epileptic Encephalopathy 42. Only six cases have linked ischemic strokes to mutations in the CACNA1A gene. Summary of Cases: We describe two unrelated patients who were found to have different mutations of the CACNA1A gene, one being a novel mutation, as shown by whole exome sequencing. One presented with seizures at birth and the other with seizures at 17 months old, both eventually exhibiting intractable epilepsy, ischemic stroke, and developmental delays. Results: Whole exome sequencing demonstrated de novo pathogenic mutations in the CACNA1A gene, which both caused similar phenotypes in unrelated patients. Conclusion: Pediatric patients who present with ischemic stroke and a history of seizures should be evaluated for CACNA1A mutations, as prompt recognition can help providers facilitate appropriate medical management.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42770045","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}
引用次数: 1
Difficulties in Diagnosis Acute Necrotizing Encephalopathy of Childhood: A Case Report 儿童急性坏死性脑病诊断困难1例
Child neurology open Pub Date : 2022-01-01 DOI: 10.1177/2329048X221095699
S. Handryastuti, Sisca Silvana, R. E. Yunus, I. Taufiqqurrachman, Achmad Rafli
{"title":"Difficulties in Diagnosis Acute Necrotizing Encephalopathy of Childhood: A Case Report","authors":"S. Handryastuti, Sisca Silvana, R. E. Yunus, I. Taufiqqurrachman, Achmad Rafli","doi":"10.1177/2329048X221095699","DOIUrl":"https://doi.org/10.1177/2329048X221095699","url":null,"abstract":"Acute necrotizing encephalopathy of childhood (ANEC) is a rare condition of encephalopathy which commonly occurs in healthy children. This case report will discuss the diagnostic approach in a female child, three years old, with neurologic deficits. The diagnostic approach of ANEC consists of clinical manifestation, laboratory examination, cerebrospinal fluid (CSF) analysis, and neuroimaging interpretation. The patient had high liver enzyme, normal CSF analysis with appearances of edema, hemorrhage and necrosis in serial brain magnetic resonance imaging (MRI).","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43406456","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}
引用次数: 2
Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene 由FKRP基因复杂插入/重复变异引起的肢带性肌营养不良R9
Child neurology open Pub Date : 2022-01-01 DOI: 10.1177/2329048X221097518
Erin Willis, S. Moore, M. Cox, V. Stefans, Akilandeswari Aravindhan, M. Gokden, A. Veerapandiyan
{"title":"Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene","authors":"Erin Willis, S. Moore, M. Cox, V. Stefans, Akilandeswari Aravindhan, M. Gokden, A. Veerapandiyan","doi":"10.1177/2329048X221097518","DOIUrl":"https://doi.org/10.1177/2329048X221097518","url":null,"abstract":"Limb-girdle muscular dystrophy R9 (LGMD2I, LGMDR9) is an autosomal recessive disorder caused by pathogenic variants in the fukutin-related protein (FKRP) gene. We describe a 17 year old boy with LGMDR9 whose symptoms began at age 5 years. Muscle histopathology, immunostaining, and western blotting were consistent with a dystroglycanopathy. Genetic testing identified maternal inheritance of the most common pathogenic FKRP variant c.826C>A (p.L276I). Also detected was a novel insertion and duplication on the paternally inherited FKRP allele: a single nucleotide insertion (c.948_949insC) and an eighteen nucleotide duplication (c.999_1017dup18) predicted to result in premature translation termination (p.E389*). Based on the clinical features and course of the patient, heterozygosity for the common pathogenic FKRP variant, and abnormal glycosylation of alpha-dystroglycan, we suggest that the novel FKRP insertion and duplication are pathogenic. This case expands the genetic heterogeneity of LGMDR9 and emphasize the importance of muscle biopsy for precise diagnosis.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44466386","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}
引用次数: 0
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