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Case Reports in Pediatrics

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https://www.readbyqxmd.com/read/29785316/a-pediatric-case-of-relapsing-remitting-multiple-sclerosis-onset-following-varicella-zoster-ophthalmicus-with-optic-neuritis
#1
Naoko Shiba, Yuji Inaba, Mitsuo Motobayashi, Makoto Nishioka, Yoichiro Kawasaki, Shunsuke Noda, Hiroki Matsuura, Norimoto Kobayashi, Takafumi Matsuoka, Akinori Nakamura, Yozo Nakazawa
Some epidemiological studies have implied a pathogenetic association between varicella zoster virus (VZV) and multiple sclerosis (MS); this, however, remains controversial. The present report describes a case involving an immunocompetent 10-year-old girl who developed relapsing-remitting MS following the prolonged reactivation of VZV inside the first branch of the trigeminal nerve, exhibiting herpes zoster ophthalmicus with severe optic neuritis. Symptoms related to herpes zoster ophthalmicus and MS appeared consecutively in the 10-week period after the appearance of vesicles...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29770234/a-case-of-congenital-syphilis-presenting-with-unusual-skin-eruptions
#2
Alexander K C Leung, Kin Fon Leong, Joseph M Lam
Once believed to be a rare disease in developed countries, recent data suggest that there is a surge in incidence of congenital syphilis in many developed countries. Diagnosis of congenital syphilis can be difficult because more than two-thirds of affected infants are asymptomatic at birth, and signs of symptomatic infants may be nonspecific or subtle. On top of this, some affected infants may have atypical presentations. Familiarity with the diverse presentations is essential to diagnosis. We report a 2-week-old male infant with congenital syphilis whose cutaneous manifestations included diffuse, erythematous keratoderma with desquamation and fissures on his hands and feet, multiple linear scaly fissures at the angles of his mouth, and onychauxis of the fingernails and toenails To our knowledge, diffuse, erythematous keratoderma of the hands and feet and thick nails have not been reported previously in congenital syphilis...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29744231/recurrent-pneumonia-due-to-fibrosing-mediastinitis-in-a-teenage-girl-a-case-report-with-long-term-follow-up
#3
Avigdor Hevroni, Chaim Springer, Oren Wasser, Avraham Avital, Benjamin Z Koplewitz
A teenage girl was evaluated for recurrent right pneumonia. The evaluation revealed a calcified mediastinal mass that compressed the right intermediate and middle lobar bronchi, as well as the right pulmonary artery and veins. The clinical picture together with imaging studies and borderline positive serology testing suggested a diagnosis of fibrosing mediastinitis associated with histoplasmosis. This rare condition is characterized by the local proliferation of invasive fibrous tissue within the mediastinum due to a hyperimmune reaction to Histoplasma capsulatum ...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29686920/difficulty-in-the-clinical-diagnosis-of-tularemia-highlighting-the-importance-of-a-physical-exam
#4
Rupin Kumar, Mohamed Mansour, Jacqueline Brunetto, Renuka Verma, Margaret Fisher, Jonathan Teitelbaum
We report an 18-month-old male who presented with fever and nonspecific symptoms. He was evaluated for multiple differential diagnoses including Kawasaki disease and JIA and received treatment for them. After he was readmitted, tularemia was considered based on the physical exam finding of an ulcer on the scalp and enlarged lymph nodes. Tularemia titers were positive, and the patient was given the appropriate antibiotic and was discharged home. Follow-up of the patient showed complete resolution of symptoms...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29682382/paroxysmal-nocturnal-dyspnea-secondary-to-right-ventricular-myxoma-a-novel-presentation-of-an-unusual-tumor
#5
Tristan E Knight, Bruce Shiramizu, Princeton Ly, Karen S Thompson, Venu Reddy
A 14-month-old male presented with paroxysmal nocturnal dyspnea and grade III/VI systolic ejection murmur at the upper left sternal border with an S4 gallop and was subsequently found to have a right ventricular cardiac myxoma. Prior presentations of these tumors have been with exertional syncope and murmur, asymptomatic murmur, or exertional dyspnea; the presentation of such a tumor with paroxysmal nocturnal dyspnea is novel.
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29666738/combined-diagnosis-of-systemic-lupus-erythematosus-and-tuberculosis-in-an-irish-adolescent-female
#6
Kene Ebuka Maduemem, Comfort O Adedokun, Adela Vatca
Systemic lupus erythematosus (SLE) is an autoimmune disease of unknown aetiology, which can affect any organ system. Tuberculosis (TB) is a common infection in SLE because of immune dysregulation associated with the latter. We report a case of an adolescent female who presented with a year's history of polyarticular arthralgia and fever. Physical examination revealed a large left effusion that needed drainage. Investigations revealed a combined diagnosis of SLE and TB. Management comprised quadruple anti-TB therapy and SLE treatment...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29527382/bronchogenic-cyst-as-an-unusual-cause-of-a-persistent-cough-and-wheeze-in-children-a-case-report-and-literature-review
#7
Ahmed Abushahin, Abdulla Zarroug, Magda Wagdi, Ibrahim Janahi
Wheezing and cough are common case scenarios that pediatricians encountered in their office practices. Although a bronchogenic cyst is an uncommon condition, it is essential to be considered in the differential diagnosis of a chronic cough and wheezing among young children who fail to respond to appropriate medical treatment. A 28-month-old girl was referred to our pediatric pulmonology clinic with persistent symptoms of a cough and wheeze unresponsive to standard asthma therapy. This presentation prompted us to undertake a detailed diagnostic evaluation...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29527381/an-8-year-old-child-with-delayed-diagnosis-of-netherton-syndrome
#8
Alexander K C Leung, Benjamin Barankin, Kin Fon Leong
We report an 8-year-old boy with Netherton syndrome who was misdiagnosed and treated as severe atopic dermatitis. The diagnosis of Netherton syndrome was not made until the child was 8 years of age. We discuss the pitfalls in the diagnosis and alert physicians to the proper and early diagnosis of this syndrome. The child was treated with a low dose (0.25 mg/kg) of oral acitretin and a topical moisturizer with marked improvement of his skin and pruritus in 2 months. At 6-month follow-up, the skin was almost clear of erythema and scaling, and the hair was longer and stronger...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29527380/bartter-syndrome-type-1-presenting-as-nephrogenic-diabetes-insipidus
#9
Gianluca Vergine, Elena Fabbri, Annalisa Pedini, Silvana Tedeschi, Niccolò Borsa
Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29527379/glycyl-trna-synthetase-gars-gene-variant-causes-distal-hereditary-motor-neuropathy-v
#10
Peter Chung, Hope Northrup, Misbah Azmath, Ricardo A Mosquera, Shade Moody, Aravind Yadav
Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds. We present the first cohort of family members of Nigerian descent with a novel heterozygous p.L272R variant on the GARS gene. We postulate that this variant is the cause of dHMN-V in this family, leading to variable phenotypical expressions that are earlier than reported in previous cases...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29527378/it-is-not-always-sepsis-fatal-tachypnea-in-a-newborn
#11
Rachel Levene, Elza Pollak-Christian, Ashish Garg, Michael Keenaghan
Coarctation of the aorta (CoA) is a congenital cardiac malformation that is well understood. Despite being well characterized, CoA is a commonly missed congenital heart disease (CHD) during the newborn period. We report a full-term nine-day-old male who presented to the pediatric emergency department (ED) with isolated tachypnea. After an initial sepsis workup, subsequent investigations revealed critical CoA. Because the primary workup focused on sepsis, there was a significant delay in prostaglandin E1 (PGE1 ) initiation...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29527377/lymphatic-drainage-of-legs-reduces-edema-of-the-arms-in-children-with-lymphedema
#12
Lívia Maria Pereira de Godoy, Paula Pereira de Godoy Capeletto, Maria de Fátima Guerreiro Godoy, Jose Maria Pereira de Godoy
Objective: The aim of the present study is to report on the reduction of edema of lymphedematous arms just by treating the lower limbs. Methods: A 16-year-old girl reported that she has started having right lower limb edema at the age of three. At age 13, she performed a lymphoscintigraphy that confirmed the diagnosis of primary lymphedema of the four limbs. Recently she sought treatment at the Clínica Godoy in São Jose do Rio Preto where she was submitted to intensive treatment for eight hours per day for five days using manual (Godoy & Godoy technique) and mechanical lymphatic therapy (RA Godoy® ) of the lower limbs, cervical lymphatic therapy (cervical stimulation), and the continuous use of a grosgrain stocking...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29527376/corrigendum-to-a-rare-cause-of-childhood-cerebellitis-influenza-infection-a-case-report-and-systematic-review-of-literature
#13
Şule Gökçe, Zafer Kurugol, Aslı Aslan, Candan Çiçek
[This corrects the article DOI: 10.1155/2017/4039358.].
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29527375/long-term-consequences-of-fetal-angiotensin-ii-receptor-antagonist-exposure
#14
K Wegleiter, M Waltner-Romen, R Trawoeger, U Kiechl-Kohlendorfer, E Griesmaier
Fetal angiotensin II receptor antagonist exposure is associated with major complications and even death when administered during pregnancy. Neonates frequently require intensive care treatment, and mortality is high. Despite this well-known risk potential, a considerable number of women still receive angiotensin II receptor antagonists during pregnancy to treat arterial hypertension. Although clinical symptoms in the neonatal period are well described, few reports address long-term follow-up after fetal exposure to angiotensin II receptor antagonists...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29527374/lysosomal-acid-lipase-deficiency-report-of-five-cases-across-the-age-spectrum
#15
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29527373/-pantoea-agglomerans-infections-in-children-report-of-two-cases
#16
Shraddha Siwakoti, Rinku Sah, Rupa Singh Rajbhandari, Basudha Khanal
Introduction: Pantoea agglomerans, primarily an environmental and agricultural organism has been reported as both commensal and pathogen of humans. We present two case reports of P. agglomerans infections in children that involved the meninges and bloodstream. Case Presentations: A 6-month-old female baby, diagnosed as congenital hydrocephalus secondary to aqueduct stenosis with ventriculoperitoneal shunt in situ, operated 14 days back was brought to the pediatric emergency with a two-day history of high fever associated with vomiting, irritability, excessive crying, and decreased feeding...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29527372/urethral-caruncle-presented-as-premature-menarche-in-a-4-year-old-girl
#17
Manori Gamage, D Beneragama
Urethral caruncle (UC) is a benign fleshy outgrowth at the urethral meatus. It was first described by Samuel Sharp in 1750 and occurs mainly at the posterior lip of the urethra, and the exact aetiology is still uncertain. More often it was seen in the postmenopausal women, and only few cases are reported in young girls. Patients may be asymptomatic and could find this as an incidental finding or they may present with symptoms such as dysuria, bleeding per vagina, haematuria, a mass protruding through vagina, and acute retention of urine...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29576884/corrigendum-to-nonfamilial-juvenile-polyposis-syndrome-with-exon-5-novel-mutation-in-smad-4-gene
#18
Amna Ahmed, Badr Alsaleem
[This corrects the article DOI: 10.1155/2017/5321860.].
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29445560/the-partial-duplication-of-the-5-segment-of-kmt2a-revealed-kmt2a-mllt10-rearrangement-in-a-boy-with-acute-myeloid-leukemia
#19
Hiroko Fukushima, Toru Nanmoku, Sho Hosaka, Yuni Yamaki, Nobutaka Kiyokawa, Takashi Fukushima, Ryo Sumazaki
The duplication of 5' segment of KMT2A is a rare molecular event in childhood leukemia, and the influence on prognosis is unknown. Here, we report on a boy who developed acute monocytic leukemia. Fluorescence in situ hybridization revealed the duplication of the 5' segment with 2 normal alleles at KMT2A which was eventually found to be fused with MLLT10 . Chemotherapy promptly induced the first complete remission in the patient at our facility, and the patient remained in first complete remission with negative minimal residual disease at 3...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29430316/neonatal-pneumopericardium-in-a-nonventilated-term-infant-a-case-report-and-review-of-the-literature
#20
Smita Roychoudhury, Sharandeep Kaur, Amuchou Singh Soraisham
Neonatal pneumopericardium (PPC) is a rare form of neonatal air leak syndrome with high morbidity and mortality. Air leak syndrome in the newborn is usually associated with active resuscitation, respiratory distress syndrome, meconium aspiration syndrome, mechanical ventilation, or trauma associated with labour. Neonatal PPC can be associated with other air leak syndromes such as pneumomediastinum, pneumothorax, pneumoperitoneum, and subcutaneous and interstitial emphysema. Spontaneous PPC is a rare event in the neonatal period...
2017: Case Reports in Pediatrics
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