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Case reports in pediatrics 81건

  1. [해외논문]   Congenital Rhabdomyosarcoma Presenting as a Neck Mass at Birth  

    Waldman, Leah E. (Department of Radiology, Lenox Hill Hospital of Northwell Health, 100 E. 77th St., New York, NY 10075, USA ) , Williamson, Alex K. (Department of Pathology, Cohen Children's Medical Center of Northwell Heath, 26901 76th Ave., New Hyde Park, NY 11040, USA ) , Amodio, John B. (Department of Pediatric Radiology, Long Island Jewish Medical Center of Northwell Heath, 27005 76th Ave., New Hyde Park, NY 11040, USA ) , Collins, Lee (Department of Pediatric Radiology, Long Island Jewish Medical Center of Northwell Heath, 27005 76th Ave., New Hyde Park, NY 11040, USA)
    Case reports in pediatrics v.2018 ,pp. 1243436 , 2018 , 2090-6803 ,

    초록

    Rhabdomyosarcoma is a malignant tumor of the soft tissues which preferentially affects the pediatric population. Neonatal rhabdomyosarcoma is rare, and much of the published literature concerning this entity consists of isolated case reports and small case series. Recent work involving the classification of rhabdomyosarcoma has helped to delineate prognostic information based on gene rearrangements. Here, we present a case of congenital rhabdomyosarcoma seen in utero which manifested as a neck mass at birth and was found to harbor a favorable gene fusion.

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  2. [해외논문]   A Case of Malignant Melanoma Arising in Mediastinal Malignant Teratoma  

    Nozaki, Ikuma (National Center for Global Health and Medicine, Tokyo, Japan ) , Tone, Yumi (National Center for Global Health and Medicine, Tokyo, Japan ) , Yamanaka, Junko (National Center for Global Health and Medicine, Tokyo, Japan ) , Uryu, Hideko (National Center for Global Health and Medicine, Tokyo, Japan ) , Shimizu-Motohashi, Yuko (National Center for Global Health and Medicine, Tokyo, Japan ) , Sato, Noriko (National Center for Global Health and Medicine, Tokyo, Japan ) , Matsushita, Takeji (National Center for Global Health and Medicine, Tokyo, Japan)
    Case reports in pediatrics v.2018 ,pp. 1306824 , 2018 , 2090-6803 ,

    초록

    We report about a 14-year-old boy who presented with an anterior mediastinal mass that was diagnosed as malignant teratoma. Surgical resection was performed along with pre- and postoperative chemotherapy. Although elevated alpha-fetoprotein became negative, he experienced pain in his right hip joint 3 months after resection. Systematic evaluation revealed multiple locations of metastasis, and the pathological diagnosis based on bone biopsy was malignant melanoma originating from malignant teratoma, which rapidly progressed. He died 15 months after diagnosis of the original malignant teratoma. Diagnosing and treating malignant transformation of teratoma, including malignant melanoma, is difficult because it is very rare. To our knowledge, this is the second reported case of malignant melanoma arising from a mediastinum malignant teratoma, with both cases having a poor prognosis. In addition to the follow-up of tumor markers, systematic evaluation, including imaging, should be considered even after remission to monitor malignant transformation of teratoma. We expect to establish a successful therapy and improve mortality rate after more such cases are accumulated.

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  3. [해외논문]   Incontinentia Pigmenti Misdiagnosed as Neonatal Herpes Simplex Virus Infection  

    Abdollahimajd, Fahimeh (Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran ) , Fallahi, Minoo (Neonatal Health Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran ) , Kazemian, Mohammad (Neonatal Health Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran ) , Nilipour, Yalda (Pediatric Pathology Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran ) , Radfar, Mitra (Neonatal Health Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran ) , Tehranchi, Sedigheh Tahereh (Neonatal Health Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran)
    Case reports in pediatrics v.2018 ,pp. 1376910 , 2018 , 2090-6803 ,

    초록

    Incontinentia pigmenti (IP) is an X-linked dominant neurocutaneous syndrome with ophthalmologic, neurologic, cutaneous, and dental manifestations and in most cases antenatally lethal in boys. Occasionally, typical IP may occur in boys due to Klinefelter syndrome or a genomic mosaicism. Skin lesions are observed in 4 stages: blistering, verrucous linear plaques, swirling macular hyperpigmentation, followed by linear hypopigmentation that develop during adolescence and early adulthood. Neonatal herpes simplex virus (HSV) infection can be manifested in 3 forms: localized, disseminated, and central nervous system (CNS) involvement. Timely diagnosis and treatment of neonatal HSV infection is critical. In this case report, we present a 12-day female newborn with a history of maternal genital HSV in second trimester and vesicular lesions on the upper and lower limbs that was appeared at first hours of life. She was admitted in the maternity hospital that was born and was treated by antibiotic and acyclovir for 11 days. Then, she readmitted for her distributed vesicular lesions. The results of blood and CSF for HSV PCR were negative. Eventually the diagnosis for incontinentia pigmenti was made by consultation with a dermatologist, and skin biopsy confirmed the diagnosis.

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  4. [해외논문]   Stenotrophomonas maltophilia Meningitis in a Term Healthy Neonate: A Case Report and Literature Review  

    Ibrahim, Judy (Department of Academic Affairs, Tawam Hospital, Al Ain, UAE ) , Hamwi, Nadia (Department of Academic Affairs, Tawam Hospital, Al Ain, UAE ) , Rabei, Hala (Department of Academic Affairs, Tawam Hospital, Al Ain, UAE ) , Abdelghafar, Mohamed (Department of Academic Affairs, Tawam Hospital, Al Ain, UAE ) , Al-Dulaimi, Zahraa (Dubai Medical College, Dubai, UAE ) , Al Tatari, Hossam (Pediatrics Infectious Diseases Department, Tawam Hospital, Al Ain, UAE)
    Case reports in pediatrics v.2018 ,pp. 1543934 , 2018 , 2090-6803 ,

    초록

    Stenotrophomonas maltophilia is an environmental bacterium of growing concern due to its multidrug resistance and pathogenic potential. It is considered an opportunistic pathogen of nosocomial origin most of the time, targeting a specific patients' population. We describe a case of a previously healthy full-term neonate who was found to have S. maltophilia meningitis and was successfully treated with a combination of Trimethoprim-Sulfamethoxazole and Ciprofloxacin.

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  5. [해외논문]   Osteomyelitis in Cat-Scratch Disease: A Never-Ending Dilemma—A Case Report and Literature Review  

    Donà (Division of Paediatric Infectious Diseases, Department for Woman and Child Health, University of Padua, Padua, Italy ) , , D. (Division of Paediatric Infectious Diseases, Department for Woman and Child Health, University of Padua, Padua, Italy ) , Nai Fovino, L. (Division of Paediatric Infectious Diseases, Department for Woman and Child Health, University of Padua, Padua, Italy ) , Mozzo, E. (Division of Paediatric Infectious Diseases, Department for Woman and Child Health, University of Padua, Padua, Italy ) , Cabrelle, G. (Pediatric Emergency Department, Department for Woman and Child Health, University of Padua, Padua, Italy ) , Bordin, G. (PENTA Foundation, Padua, Italy ) , Lundin, R. (Division of Paediatric Infectious Diseases, Department for Woman and Child Health, University of Padua, Padua, Italy ) , Giaquinto, C. (Pediatric Emergency Department, Department for Woman and Child Health, University of Padua, Padua, Italy ) , Zangardi, T. (Division of Paediatric Infectious Diseases, Department for Woman and Child Health, University of Padua, Padua, Italy) , Rampon, O.
    Case reports in pediatrics v.2018 ,pp. 1679306 , 2018 , 2090-6803 ,

    초록

    Background We performed a review of published case studies of osteomyelitis associated with cat-scratch disease to consolidate existing information on clinical presentation, diagnostic tools, therapy, and outcome, as well as presenting a case of disseminated cat-scratch disease in a 12-year-old female with skull osteomyelitis and spleen involvement. Methods A search for articles indexed in PubMed, Embase, and Google Scholar was performed with the search terms “ Bartonella ,” “bone,” “osteomyelitis,” “osteolytic,” and “cat-scratch disease” limited to the immunocompetent pediatric population and articles in English. Results 51 cases were identified. The average age was 7.8 years with equal sex distribution. Fever (84.3%), often with a prolonged course (64.7%), and osteoarticular pain (88.2%) were the most common clinical findings. Lymphadenopathy was present in 64.7% of patients. Vertebral body was mainly involved (51.9%). MRI (50%) and bone scintigraphy (48.1%) were favored to confirm osteomyelitis, while serology was the preferred microbiological diagnostic. Various antibiotics were prescribed in combined or sequential regimens, with median duration of therapy of 23 days. About 12.5% of patients did not receive any treatment. Most patients had excellent prognosis; in particular, all patients not receiving any therapy showed complete recovery and no recurrence of symptoms. Conclusions Bartonella henselae should be considered in differential diagnosis of localized lymphadentitis. Osteoarticular pain or limitation during cat-scratch disease in children should always be investigated for bone spreading. Owing to good prognosis, invasive procedures to obtain the bone material should be avoided. Serology is the gold standard diagnostic tool and MRI is the best radiographic technique to define bone and surrounding tissue involvement. Treatment represents a never-ending dilemma: surgical intervention or use of antibiotics is still controversial, and more studies are needed to define the best antimicrobial regimen.

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  6. [해외논문]   A Wilms' Tumor with Spinal Cord Compression: An Extrarenal Origin?  

    Petit, Audrey (Département de Pédiatrique, CHU de Grenoble, Grenoble, France ) , Rubio, Amandine (Département de Pédiatrique, CHU de Grenoble, Grenoble, France ) , Durand, Chantal (Département de Radiologie, CHU de Grenoble, Grenoble, France ) , Piolat, Christian (Département de Chirurgie, CHU de Grenoble, Grenoble, France ) , Perret, Cé (Département de Pédiatrique, CHU de Grenoble, Grenoble, France ) , cile (Département de Pédiatrique, CHU de Grenoble, Grenoble, France ) , Pagnier, Anne (Département de Pédiatrique, CHU de Grenoble, Grenoble, France ) , Plantaz, Dominique (Département de Pathologie, CHU de Grenoble, Grenoble, France) , Sartelet, Hervé
    Case reports in pediatrics v.2018 ,pp. 1709271 , 2018 , 2090-6803 ,

    초록

    Spinal cord compression in Wilms' tumor (WT) is an extremely rare event that can have a very poor prognosis if not taken care of rapidly. Most cases reported in the literature involve widely metastatic patient with bone or paraspinal metastases or occasionally intradural metastasis. Here, we present the case of a 3-year-old girl of WT confirmed by biopsy, with spinal cord compression due to the direct contiguous spread of a tumor through 2 vertebral foramina. Abdominal ultrasonography and magnetic resonance imaging performed for an abdominal mass revealed a large heterogeneous tumor near the upper pole of the left kidney. A nodular infiltration extended through the T11-L1 and L1-L2 neural foramina, forming an intraspinal mass that compressed the spinal cord. Major paresthesia subsequently occurred, requiring urgent treatment with corticosteroids and chemotherapy. The evolution was rapidly satisfying. After six courses of chemotherapy, a left nephrectomy was performed. Macroscopic examination identified a large tumor attached to the kidney without renal infiltration. Microscopical examination concluded to a nephroblastoma with regressive changes, of intermediate risk. Evolution at 6 months is satisfactory, with no neurological deficit. The histological aspect of the tumor and the clinical outcome suggest that she had an extrarenal WT that spread through the vertebral foramina and was secondarily attached to the kidney.

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  7. [해외논문]   A Case of Congenital Syphilis Presenting with Unusual Skin Eruptions  

    Leung, Alexander K. C. (Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, AB, Canada T2M 0H5 ) , Leong, Kin Fon (Pediatric Institute, Kuala Lumpur General Hospital, Kuala Lumpur, Malaysia ) , Lam, Joseph M. (Department of Pediatrics, Department of Dermatology and Skin Sciences, University of British Columbia, Vancouver, BC, Canada V5Z 1K1)
    Case reports in pediatrics v.2018 ,pp. 1761454 , 2018 , 2090-6803 ,

    초록

    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.

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  8. [해외논문]   A Case of Upper Limb Osteomyelitis and Septic Arthritis Presenting as Pseudoparalysis in a Two-Week-Old  

    Stohr, Kuldeep (Trauma and Orthopaedics Department, Cambridge University Hospitals Trust, Cambridge, UK ) , Xu, Guang Xia (Trauma and Orthopaedics Department, Cambridge University Hospitals Trust, Cambridge, UK)
    Case reports in pediatrics v.2018 ,pp. 1796831 , 2018 , 2090-6803 ,

    초록

    Pseudoparalysis presenting in infants is a rare manifestation, where infection and trauma are the principle differentials. We present a case of a two-week-old baby boy with pseudoparalysis who was initially diagnosed as Erb's palsy when presented in the emergency department and later re-presented with signs of sepsis. A later diagnosis of osteomyelitis of the humerus and septic arthritis of the shoulder was made. Despite antibiotic therapy and surgical drainage, the proximal epiphysis of his humerus remains abnormal; however, he has no apparent functional deficit of his right arm at four-year follow-up.

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  9. [해외논문]   Combined Diagnosis of Systemic Lupus Erythematosus and Tuberculosis in an Irish Adolescent Female  

    Maduemem, Kene Ebuka (Department of Paediatrics, Cork University Hospital, Cork, Ireland ) , Adedokun, Comfort O. (Department of Emergency Medicine, Cork University Hospital, Cork, Ireland ) , Vatca, Adela (Department of Paediatrics, Cork University Hospital, Cork, Ireland)
    Case reports in pediatrics v.2018 ,pp. 2031219 , 2018 , 2090-6803 ,

    초록

    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. She made a steady recovery and has maintained a stable state from the lupus perspective.

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  10. [해외논문]   Bilateral Giant Hydronephrosis in a Ten-Year-Old Male  

    Kamath, Sowmini P. (Department of Pediatrics, Kasturba Medical College (Constituent Unit of Manipal Academy of Higher Education), Mangaluru 575001, India ) , Ganesh Pai, K. (Department of Pediatric Surgery, Kasturba Medical College (Constituent Unit of Manipal Academy of Higher Education), Mangalore 575001, India ) , Baliga, B. Shantharam (Department of Pediatrics, Kasturba Medical College (Constituent Unit of Manipal Academy of Higher Education), Mangaluru 575001, India)
    Case reports in pediatrics v.2018 ,pp. 2470369 , 2018 , 2090-6803 ,

    초록

    We describe a ten-year-old male with bilateral giant hydronephrosis due to pelviureteric junction obstruction presenting with abdominal distension and renal failure. The diagnosis was confirmed on computed tomography and required a two-stage procedure, initially percutaneous nephrostomy followed by Anderson–Hynes pyeloplasty with recovery of kidney function.

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