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  1. 31621
    “…CASE PRESENTATION: Here, we report the case of a 13-year-old girl with ARC featuring an incomplete and mild phenotype with novel compound heterozygous mutations of VPS33B. …”
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    One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype
  2. 31622
    “…One patient was a 1-year-old girl who received an iatrogenic intravenous phenytoin overdose of 10 times the normal dose, resulting in a phenytoin level of 72.4 mcg/mL. …”
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    Characteristics and Consequences of Medication Errors in Pediatric Patients Reported to Ramathibodi Poison Center: A 10-Year Retrospective Study
  3. 31623
    “…In case 2, a 10-year-old girl fell down 1 d ago and wanted to have her teeth examined. …”
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    Spontaneous healing of complicated crown-root fractures in children: Two case reports
  4. 31624
    “…Mutations in the nuclear receptor subfamily 5 group A member 1 (NR5A1) are the underlying cause of 10–20% of 46,XY disorders of sex development (DSDs). We describe a young girl with 46,XY DSD due to a unique novel mutation of the NR5A1 gene. …”
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    Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant
  5. 31625
    “…A rare TINF2 frameshift mutation (c.591delG) encoding a truncated mutant TIN2 protein (p.W198fs) was identified in a 6-years-and-3-month-old Chinese girl with neuroblastoma (NB) by next generation sequencing and confirmed by Sanger sequencing. …”
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    A Rare Heterozygous TINF2 Deletional Frameshift Mutation in a Chinese Pedigree With a Spectrum of TBDs Phenotypes
  6. 31626
    “…We have recently identified a de novo variant in KCNA1 in the highly conserved Pro-Val-Pro motif within the pore of the Kv1.1 channel in a girl affected by early onset epilepsy, ataxia and developmental delay. …”
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    Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia
  7. 31627
    “…A healthy 11-year-old girl presents with epigastric abdominal pain, fever, weight loss, and decreased appetite for 1 month. …”
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    Persistent Eosinophilia and Fever in Pancreatitis: A Clinical Conundrum
  8. 31628
    “…It is rarely seen in children with SLE. A 13-year-old girl met the 2019 European League Against Rheumatism (EULAR)/ American College of Rheumatology (ACR) Classification Criteria for SLE based on positive ANA; facial rash; thrombocytopenia; proteinuria; and positive antiphospholipid (aPL) antibodies, including lupus anticoagulant (LAC), anti-β2 glycoprotein-I antibody (anti-β2GPI), and anti-cardiolipin antibody (aCL). …”
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    Lupus podocytopathy and antiphospholipid syndrome in a child with SLE: A case report and literature review
  9. 31629
    “…Three other individuals with LAL-D and progression to liver cancer have been reported so far and none of them underwent enzyme replacement therapy: an 11-year-old girl with HCC, a 51-year-old male with cholangiocarcinoma, and a 21-year-old male with hepatocellular-cholangiocarcinoma. …”
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    15-Year progression to liver cancer in the lack of treatment for lysosomal acid lipase deficiency: A case report
  10. 31630
    “…Design  Case report of a 15-year-old girl with diplopia and esotropia due to complete abducens palsy. …”
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    Endoscopic Endonasal Transethmoidal-Transsphenoidal Approach to a Cavernous Sinus Chondrosarcoma
  11. 31631
    “…CASE PRESENTATION: We present a case of a 13-year-old girl with spontaneous hemothorax, the cause of which was identified by limited thoracotomy with the aid of video-assisted thoracic surgery to be bleeding from a diaphragmatic laceration incurred by a costal exostosis on the left sixth rib. …”
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    Hemothorax caused by costal exostosis injuring diaphragm: a case report and literature review
  12. 31632
    “…MATERIAL AND METHODS: We studied a 5-year old girl presenting with a history of Burkholderia cepacia infection. …”
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    Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKCδ Deficiency
  13. 31633
    “…CASE DESCRIPTION: We report the case of an 11-year-old girl who has been complaining of a progressively increasing hump in her back with waist and shoulders asymmetry during the past 6 months. …”
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    Surgical correction of a previously operated juvenile idiopathic scoliosis with crankshaft phenomenon: an illustrative case report
  14. 31634
    por Zhang, Jia, Gan, Jing, Wang, Jianjun
    Publicado 2022
    “…Case presentation The patient was a 7-year-old girl with recurrent intermittent fever and seizures, and viral encephalitis was diagnosed at the beginning of the disease. …”
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    A case of GFAP-IgG positivity followed by anti-NMDAR encephalitis
  15. 31635
    “…We report a case of a 4-year-old girl diagnosed with SDNS at the age of 3. As treatment with steroids, enalapril, and mycophenolate failed to produce complete remission, rituximab was initiated, and remission was successfully achieved after administration of the first dose. …”
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    Necrotizing Fasciitis: A Side Effect of Rituximab Administration in Steroid-Dependent Nephrotic Syndrome
  16. 31636
    “…We report a 16-year-old girl, weighing 27kg, a case of pulmonary Koch's who presented with hydropneumothorax on left side. …”
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    Intraoperative surprise evidence of bronchial rent during lung surgery: a case report
  17. 31637
    “…This report discusses a rare case of a 13-year-old girl presenting with fever and acute kidney injury (AKI) eight weeks after recovering from COVID-19 who was diagnosed with MIS-C. …”
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    A Rare Case of a Child Diagnosed With Multisystem Inflammatory Syndrome After COVID-19 Presenting With Renal Infarctions and Transient Blast Cells: A Case Report and Literature Review
  18. 31638
    “…CASE SUMMARY: A previously healthy, 14-year-old Asian girl with facial palsy presented to the emergency department with inability to close the right eye or wrinkle right side of the forehead, and pain in the right cheek. …”
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    Multiple cranial nerve palsies with small angle exotropia following COVID-19 mRNA vaccination in an adolescent: A case report
  19. 31639
    “…We described the case of a girl affected by CACP syndrome caused by a novel compound heterozygous variant in proteoglycan 4 gene (c.2831_2832insT; c.3892C > T) and associated with temporomandibular involvement. …”
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    Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature
  20. 31640
    “…To address this issue, monoclonal autoantibodies were isolated from a young girl with a range of neurologic symptoms, some of which reacted with specific GABA(A) receptor (GABA(A)R) subunits, α1-subunit and α1γ2-subunit, which in this study we have characterized in detail using a combination of cellular imaging and electrophysiological techniques. …”
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    Differential Modes of Action of α1- and α1γ2-Autoantibodies Derived from Patients with GABA(A)R Encephalitis
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