Case Reports in Pediatrics最新文献

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Minocycline-Induced Gum Pigmentation during Treatment for Acne Vulgaris. 二甲胺四环素治疗寻常性痤疮期间引起的牙龈色素沉着。
IF 0.9
Case Reports in Pediatrics Pub Date : 2022-10-14 eCollection Date: 2022-01-01 DOI: 10.1155/2022/9493061
Jami Wang, Isabella Brown, Heidi Goodarzi
{"title":"Minocycline-Induced Gum Pigmentation during Treatment for Acne Vulgaris.","authors":"Jami Wang,&nbsp;Isabella Brown,&nbsp;Heidi Goodarzi","doi":"10.1155/2022/9493061","DOIUrl":"https://doi.org/10.1155/2022/9493061","url":null,"abstract":"<p><p>Minocycline, a type of tetracycline, is a broad-spectrum antibiotic that is commonly prescribed in dermatology for the treatment of acne vulgaris. Common side effects of minocycline include nausea, vertigo, and dizziness while less common side effects include hyperpigmentation. In this case study, we found an 18-year-old female who presented with dark blue pigmentation in her upper gum after using minocycline on and off for 4 years. After discontinuation of the minocycline for 2 years, the pigmentation decreased gradually.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":" ","pages":"9493061"},"PeriodicalIF":0.9,"publicationDate":"2022-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9586787/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40653052","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
Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis. 胎儿发育不良2例误诊报告。
IF 0.9
Case Reports in Pediatrics Pub Date : 2022-09-28 eCollection Date: 2022-01-01 DOI: 10.1155/2022/3056324
Lamidi Audu, Amina Gambo, Tokan Silas Baduku, Bilkisu Farouk, Anisa Yahaya, Kefas Jacob
{"title":"Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis.","authors":"Lamidi Audu,&nbsp;Amina Gambo,&nbsp;Tokan Silas Baduku,&nbsp;Bilkisu Farouk,&nbsp;Anisa Yahaya,&nbsp;Kefas Jacob","doi":"10.1155/2022/3056324","DOIUrl":"https://doi.org/10.1155/2022/3056324","url":null,"abstract":"<p><p>Thanatophoric dysplasia (TD) is a rare but uniformly lethal inherited disorder of the skeletal system resulting from defects in the fibroblast growth factor receptor-3 gene on the short arm of chromosome ##4. It is characterised by pronounced shortening of the tubular bones resulting in significant short stature, macrocephaly, a funnel-shaped chest, protuberant abdomen, redundant skin in the limbs, and typical facies among others. The two clinical types of TD are differentiated by typical cranial and tubular bone configurations. Antenatal diagnosis is usually made in the last trimester and corroborated at birth. We present 2 cases of TD seen at Barau Dikko Teaching Hospital (BDTH) between January and August 2021 to highlight the potential difficulty with antenatal diagnosis, its diagnostic features, and associated early postnatal fatality. The antenatal diagnosis was missed in both cases in spite of repeated 2<sup>nd</sup> and 3<sup>rd</sup>-trimester sonographic examinations. Both babies presented with remarkable micromelic short stature with the telephone-handle appearance of the femoral bones characteristic of type 1 TD, developed progressive respiratory distress at birth, and died within 36 hours of life despite respiratory support with Bubble CPAP. These cases are discussed along with a review of existing relevant literature.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":" ","pages":"3056324"},"PeriodicalIF":0.9,"publicationDate":"2022-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9534681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33498189","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
COVID-19 Symptomatic Newborns with Possible Postpartum Transmission of SARS-CoV-2. 有COVID-19症状的新生儿可能产后传播SARS-CoV-2
IF 0.9
Case Reports in Pediatrics Pub Date : 2022-09-27 eCollection Date: 2022-01-01 DOI: 10.1155/2022/7394175
Mohammad Hosein Ataee Nakhaei, Sahar Safapour Moghadam, Saeedeh Yaghoubi
{"title":"COVID-19 Symptomatic Newborns with Possible Postpartum Transmission of SARS-CoV-2.","authors":"Mohammad Hosein Ataee Nakhaei,&nbsp;Sahar Safapour Moghadam,&nbsp;Saeedeh Yaghoubi","doi":"10.1155/2022/7394175","DOIUrl":"https://doi.org/10.1155/2022/7394175","url":null,"abstract":"<p><p>Coronavirus disease 2019 (COVID-19) infection, which was initially reported in Wuhan, China, in December 2019, had a rapid spread throughout the world becoming a new global crisis. Today, very little is known about neonatal COVID-19 infection. Herein, we tried to define the clinical and demographic characteristics, risk factors, and laboratory and imagining findings of neonates who tested positive for COVID-19 and were admitted to the NICU (neonatal intensive care unit) of Ali Ibn Abi Taleb Hospital, Zahedan, Iran, from June 2021 to July 2021. All full-term and premature neonates diagnosed with COVID-19 were included in the study. Their ages ranged from 1 to 21 days at admission, including 6 boys and 4 girls. The medical records of mother-baby dyads were reviewed. All mothers, except for one, were negative for COVID-19 infection. The most frequent findings in the neonates were fever, poor feeding, respiratory distress, cough, hypoxemia, and drooling. Broad-spectrum antibiotics were administered as routine. All neonates, except for one, needed respiratory support, and intratracheal surfactant was administered for three newborns. Three neonates with severe disorders died during the study period.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":" ","pages":"7394175"},"PeriodicalIF":0.9,"publicationDate":"2022-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9532159/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33510498","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: 2
Acute Rhabdomyolysis in a Child with Multiple Suspicious Gene Variants. 儿童急性横纹肌溶解伴多种可疑基因变异。
IF 0.9
Case Reports in Pediatrics Pub Date : 2022-09-24 eCollection Date: 2022-01-01 DOI: 10.1155/2022/2099827
Aiko Murakami, Rhiana L Lau, Robert Wallerstein, Tamara Zagustin, Garett Kuwada, Prashant J Purohit
{"title":"Acute Rhabdomyolysis in a Child with Multiple Suspicious Gene Variants.","authors":"Aiko Murakami,&nbsp;Rhiana L Lau,&nbsp;Robert Wallerstein,&nbsp;Tamara Zagustin,&nbsp;Garett Kuwada,&nbsp;Prashant J Purohit","doi":"10.1155/2022/2099827","DOIUrl":"https://doi.org/10.1155/2022/2099827","url":null,"abstract":"<p><p>Rhabdomyolysis is diagnosed with creatinine kinase (CK) elevation beyond 1000 U/L or ten times above the normal upper limit. Severe episodes can be fatal from electrolyte imbalance, acute renal failure, and disseminated intravascular coagulation. A 13-month-old child was admitted with a CK of 82,090 U/L in the setting of respiratory tract infection-related hyperthermia of 106.9° farenheit. His medical history was significant for prematurity, dystonia, and recurrent rhabdomyolysis. His home medications clonazepam, clonidine, and baclofen were continued upon admission. He exhibited uncontrolled dystonia despite treatment for dystonia. Therefore, sedative infusions and forced alkaline diuresis were begun to prevent heme pigment-induced renal injury. Despite these interventions, his CK peaked at 145,920 U/L, which is rarely reported in this age group. The patient also developed pulmonary edema despite diuresis and required mechanical ventilation. Sedative infusions were not enough for dystonia management, and he needed the addition of a neuromuscular blocking infusion. He finally responded to these interventions, and the CK normalized after a month. He required a month of mechanical ventilation and two and a half months of hospitalization and extensive rehabilitation. We were able to avert renal replacement therapy despite pulmonary edema and an estimated glomerular filtration rate nadir of 21 mL/min/1.73 m<sup>2</sup> based on the bedside Schwartz formula. He made a complete recovery and was discharged home. His growth and development were satisfactory for two years after that event. His extensive diagnostic workup was negative. Unfortunately, he died from septic and cardiogenic shock with mild rhabdomyolysis two years later. Prompt recognition, early institution of appropriate therapies, identification of underlying disease, and triggering events are pivotal in rhabdomyolysis management. Evidence-based guidelines are needed in this context.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":" ","pages":"2099827"},"PeriodicalIF":0.9,"publicationDate":"2022-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9526545/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33486370","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
Early Neurodevelopmental Outcomes after Previable Preterm Prelabour Rupture of Membranes (pPPROM). 产前胎膜破裂(pPPROM)后早期神经发育结局。
IF 0.9
Case Reports in Pediatrics Pub Date : 2022-09-20 eCollection Date: 2022-01-01 DOI: 10.1155/2022/3428841
Christy L Pylypjuk, Katarina Nikel, Chelsea Day, Ladonna Majeau, Adelicia Yu, Yasmine ElSalakawy, M Florencia Ricci
{"title":"Early Neurodevelopmental Outcomes after Previable Preterm Prelabour Rupture of Membranes (pPPROM).","authors":"Christy L Pylypjuk,&nbsp;Katarina Nikel,&nbsp;Chelsea Day,&nbsp;Ladonna Majeau,&nbsp;Adelicia Yu,&nbsp;Yasmine ElSalakawy,&nbsp;M Florencia Ricci","doi":"10.1155/2022/3428841","DOIUrl":"https://doi.org/10.1155/2022/3428841","url":null,"abstract":"<p><strong>Objective: </strong>To describe the early neurodevelopmental outcomes following fetal exposure to previable preterm prelabour rupture of membranes (pPPROM).</p><p><strong>Methods: </strong>This was a secondary analysis of a subgroup of neonates born following pPPROM from a retrospective cohort study (2009-2015). Surviving infants who underwent standardized neurodevelopmental evaluation at 18-24 months corrected age (CA) between 2017 and 2019 were eligible for inclusion. Data abstracted from hospital charts were linked to prospectively collected developmental outcomes stored in an electronic database from a regional neonatal follow-up clinic. The primary outcome was Bayley-III composite scores (compared to the population mean 100, standard deviation (SD) 15). Secondary outcomes included presence of cerebral palsy, vision loss, hearing impairment, and requirement of rehabilitation therapy. Descriptive statistics were used to present results.</p><p><strong>Results: </strong>25.7% (19/74) of neonates born after pPPROM survived to hospital discharge, but only 21.6% (16/74) survived to 18-24 months CA. Of these, 9 infants were eligible for follow-up at the regional clinic and 7 had developmental outcomes stored in the electronic database. Infants exposed to pPPROM exhibited Bayley-III scores more than 1 SD below the population mean across all three domains: cognitive 84.9 (SD 12.2); motor 82.3 (SD 11.5); and language 66.4 (SD 18.9). There were particular deficiencies in language development with 71% (5/7) scoring more than 2 SDs below the population mean. There were no cases of cerebral palsy.</p><p><strong>Conclusions: </strong>Only 1 in 5 infants born following expectantly managed pPPROM survived to 18-24 months CA. These infants born after pPPROM had significantly lower Bayley-III scores and particular deficiencies in language development. Better understanding of early neurodevelopmental challenges following pPPROM will help refine counselling of families contemplating expectant management and provide insights into the postnatal educational resources required to improve long-term developmental outcomes for these children.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":" ","pages":"3428841"},"PeriodicalIF":0.9,"publicationDate":"2022-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9526558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33486369","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
Disseminated Pulmonary Mycosis Caused by Candida tropicalis in an 11-Year-Old Male Patient with Chronic Granulomatous Disease. 11岁男性慢性肉芽肿病伴热带念珠菌引起的播散性肺真菌病。
IF 0.9
Case Reports in Pediatrics Pub Date : 2022-09-19 eCollection Date: 2022-01-01 DOI: 10.1155/2022/7089907
Ali Alsuheel Asseri, Ahmed Al-Jarie, Alshima Alassim, Mohamed E Hamid, Hamza AlGhamdi
{"title":"Disseminated Pulmonary Mycosis Caused by <i>Candida tropicalis</i> in an 11-Year-Old Male Patient with Chronic Granulomatous Disease.","authors":"Ali Alsuheel Asseri,&nbsp;Ahmed Al-Jarie,&nbsp;Alshima Alassim,&nbsp;Mohamed E Hamid,&nbsp;Hamza AlGhamdi","doi":"10.1155/2022/7089907","DOIUrl":"https://doi.org/10.1155/2022/7089907","url":null,"abstract":"<p><p>Invasive fungal infection is a major threat to chronic granulomatous disease (CGD) patients. We present a rare case of invasive mycosis in a CGD boy. An 11-year-old preadolescent boy presented with fever, hypoxia, and dyspnea. Physical examination revealed left neck enlarged lymph nodes with healed scars. The chest revealed bilateral diminished air entry with bilateral coarse crackles. Peripheral blood leukocyte count was 28.260/<i>μ</i>L with 84% neutrophil, 11% lymphocyte, and 4.4% monocyte. The patient's condition deteriorated regardless of the empirical antibacterial against MRSA and suspected tuberculosis. A sputum sample was submitted for mycological investigation, and budding yeasts with pseudohyphae were detected in the direct smear and were isolated in pure culture using Sabouraud agar. <i>Candida tropicalis</i> was identified from cultural and microscopic features and confirmed by the Vitek 2 automated system. This result confirmed the invasive mycosis, obviously due to the underlying primary immunodeficiency, chronic granulomatous disease (CGD). Amphotericin was added, and he also received IV methylprednisolone for seven days. The patient improved and was weaned off oxygen with no fever. However, the patient was referred to a higher center for further workup, which confirmed CGD's diagnosis. He is on the list for HLA-identical bone marrow transplantation (BMT).</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":" ","pages":"7089907"},"PeriodicalIF":0.9,"publicationDate":"2022-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9526550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33486368","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
Decompressive Hemicraniectomy and Favorable Outcome in a Pediatric Patient with Malignant Middle Cerebral Artery Infarction. 儿童恶性大脑中动脉梗死患者的减压半脑切除术和良好的预后。
IF 0.9
Case Reports in Pediatrics Pub Date : 2022-09-13 eCollection Date: 2022-01-01 DOI: 10.1155/2022/6500488
Ricardo Barrientos, Carlos Sisniega, Samanta Catueno, Robin Hougen, Ashley Hanna, Utpal Bhalala
{"title":"Decompressive Hemicraniectomy and Favorable Outcome in a Pediatric Patient with Malignant Middle Cerebral Artery Infarction.","authors":"Ricardo Barrientos,&nbsp;Carlos Sisniega,&nbsp;Samanta Catueno,&nbsp;Robin Hougen,&nbsp;Ashley Hanna,&nbsp;Utpal Bhalala","doi":"10.1155/2022/6500488","DOIUrl":"https://doi.org/10.1155/2022/6500488","url":null,"abstract":"<p><p>We report a rare case of middle cerebral artery (MCA) stroke in a teenage girl with initial improvement, followed by progression to malignant MCA infarction, requiring an urgent decompressive hemicraniectomy (DHC). Additionally, we report improvement in all areas, including language, comprehension, and motor skills at discharge and the 4-month follow-up. This rare presentation highlights the importance of monitoring the neurological status of a patient with an MCA infarct for progression to a life-threatening malignant MCA infarct. This case report also highlights the importance of consideration of DHC for a favorable outcome of the MMCA infarction.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":" ","pages":"6500488"},"PeriodicalIF":0.9,"publicationDate":"2022-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33477760","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
Gastric Xylobezoar Treated with Continuous Enteral Coca-Cola® Infusion. 连续肠内可口可乐®输液治疗胃木黄酮。
IF 0.9
Case Reports in Pediatrics Pub Date : 2022-08-28 eCollection Date: 2022-01-01 DOI: 10.1155/2022/7187356
Gopinathan Gangadharan Nambiar, Eyad Hanna, Julia Shelton, Rose Lee
{"title":"Gastric Xylobezoar Treated with Continuous Enteral Coca-Cola® Infusion.","authors":"Gopinathan Gangadharan Nambiar,&nbsp;Eyad Hanna,&nbsp;Julia Shelton,&nbsp;Rose Lee","doi":"10.1155/2022/7187356","DOIUrl":"https://doi.org/10.1155/2022/7187356","url":null,"abstract":"<p><p>Xylobezoar is a rare clinical condition in which undigested paper becomes trapped in the gastrointestinal tract causing varying degrees of gastrointestinal obstruction. This condition can be suspected in children with a history of gastric surgeries, decreased gastrointestinal motility, or pica. Xylobezoar presents with symptoms ranging from chronic abdominal pain to gastrointestinal perforation. Surgical intervention is often required as endoscopic removal is challenging and not always successful. Chemical dissolution has been shown to be effective in treating certain bezoars. Here, we report a case of a pediatric patient with xylobezoar who was successfully treated with continuous enteral Coca-Cola® infusion.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":" ","pages":"7187356"},"PeriodicalIF":0.9,"publicationDate":"2022-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441401/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33447951","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
Ectopia Cordis as a Lethal Neonatal Condition: A Case Report from Bahrain and a Literature Review. 新生儿致死性异位:巴林一例报告及文献回顾。
IF 0.9
Case Reports in Pediatrics Pub Date : 2022-08-22 eCollection Date: 2022-01-01 DOI: 10.1155/2022/6850305
Shereen M Mohamed, Hasan M Isa, Amarjit K Sandhu
{"title":"Ectopia Cordis as a Lethal Neonatal Condition: A Case Report from Bahrain and a Literature Review.","authors":"Shereen M Mohamed,&nbsp;Hasan M Isa,&nbsp;Amarjit K Sandhu","doi":"10.1155/2022/6850305","DOIUrl":"https://doi.org/10.1155/2022/6850305","url":null,"abstract":"<p><p>Ectopia cordis is a rare type of malformation where the heart is not located normally. It may be partially or completely located outside the thoracic cavity and can be associated with other congenital abnormalities. It results from failure of maturation of midline mesoderm and ventral body formation during embryogenic formation. The exact etiology remains unknown. The literature review reveals the prognosis for infants with ectopia cordis is very poor. Here, we are reporting the first case of a fetus that was prenatally diagnosed with ectopia cordis that was associated with omphalocele documented in our country. Considering the poor prognosis for the fetus, conservative management during the prenatal period was chosen.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":" ","pages":"6850305"},"PeriodicalIF":0.9,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9424026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40334440","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: 2
Central Nervous System Xanthoma Disseminatum: Response to 2CdA in an Adolescent. 青少年中枢神经系统弥散性黄瘤:对2CdA的反应。
IF 0.9
Case Reports in Pediatrics Pub Date : 2022-07-22 eCollection Date: 2022-01-01 DOI: 10.1155/2022/9906668
Patrick DeMoss, Nancy Tang, Kristen Yeom, Audris Chiang, Ann L Marqueling, Michael R Jeng
{"title":"Central Nervous System Xanthoma Disseminatum: Response to 2CdA in an Adolescent.","authors":"Patrick DeMoss,&nbsp;Nancy Tang,&nbsp;Kristen Yeom,&nbsp;Audris Chiang,&nbsp;Ann L Marqueling,&nbsp;Michael R Jeng","doi":"10.1155/2022/9906668","DOIUrl":"https://doi.org/10.1155/2022/9906668","url":null,"abstract":"<p><p>Xanthoma disseminatum is a normolipemic non-Langerhans cell histiocytosis characterized by red-brown rubbery papules of the skin which coalesce into plaque-like lesions with symmetric involvement of face, flexor, and intertriginous areas. Less commonly, xanthoma disseminatum may affect mucosal linings, abdominal organs, and the central nervous system, leading to endocrinopathies. We report a 12-year-old adolescent with mucosal, central nervous system, and painful cutaneous lesions, further complicated by diabetes insipidus and amenorrhea. Treatment with 2-chlorodeoxyadenosine led to relief of pain and significant improvement of mucosal, central nervous system, and cutaneous lesions, with subsequent restoration of menstrual cycles.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":" ","pages":"9906668"},"PeriodicalIF":0.9,"publicationDate":"2022-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9337940/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40573448","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
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