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Dynamic endoscopic progression of gastrointestinal tract involvement in Langerhans cell histiocytosis: A pediatric case report.
DEN Open
April 2025
Department of Pediatrics, The Fourth Affiliated Hospital of School of Medicine, and International School of Medicine, International Institutes of Medicine Zhejiang University Yiwu China.
Article Synopsis
- Gastrointestinal involvement in Langerhans cell histiocytosis (LCH) is rare; a 19-month-old girl presented with severe gastrointestinal and systemic symptoms, leading to multiple medical interventions.
- The diagnosis of LCH was confirmed after three endoscopies, revealing significant changes in the colorectal region, including ulcers and inflammation, and a BRAF-V600E mutation was identified.
- Treatment with chemotherapy and a BRAF inhibitor (dabrafenib) resulted in rapid clinical improvement, and the patient was symptom-free with normal bowel movements during a follow-up after one year.
Intralesional epileptiform activity in a fourth ventricular hamartoma associated with epileptic hemifacial spasm in a toddler: illustrative case.
J Neurosurg Case Lessons
July 2024
Departments of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Background: Focal epilepsy caused by a posterior fossa lesion is a rare phenomenon. In these cases, seizure onset typically occurs during the first few months of life, with episodes of epileptic hemifacial spasms and abnormal eye movements. Patients often present with drug-resistant epilepsy and often require resection for the best chance of seizure freedom.
View Article and Find Full Text PDFOpen repair of an abdominal aortic and right common iliac artery aneurysm with idiopathic retroperitoneal fibrosis in a 19-month-old infant.
J Vasc Surg Cases Innov Tech
August 2024
Division of Vascular and Endovascular Surgery, Department of Surgery, University of Texas Southwestern Medical Center, Dallas, TX.
An abdominal aortic aneurysm (AAA) in children is a rare clinical condition, with idiopathic AAAs even more atypical. We report a case of a 19-month-old girl with incidental findings of an infrarenal AAA and right common iliac artery aneurysm during workup for heart failure. Extensive genetic testing was unremarkable for connective tissue disorders.
View Article and Find Full Text PDFChronic stridor in a toddler after ingestion of a discharged button battery: a case report.
BMC Pediatr
April 2024
Pediatric Emergency Department, Bielefeld University, University Hospital OWL, Children's Center Bethel, Bielefeld, Germany.
Article Synopsis
- Button battery ingestions are a rising threat in children, often leading to severe health risks if ingested, especially through charged batteries that can cause symptoms quickly; discharged batteries can complicate diagnosis due to protracted symptoms.
- A case is presented of a 19-month-old girl with three months of respiratory and feeding issues, where initial examinations ruled out common infections and showed no signs of foreign body ingestion.
- Further investigation via bronchoscopy and esophagoscopy revealed a button battery lodged in her esophagus, which required a complex retrieval procedure due to its position and led to subsequent complications like esophageal stenosis.
Clinical Reasoning: A 19-Month-Old Girl With Infantile-Onset Myopathy and White Matter Changes.
Neurology
April 2024
From the Department of Paediatrics, Division of Medical Genetics (G.L., V.M.S.), and Department of Medical Imaging (A.L.), Western University, London, Ontario, Canada.
We describe the case of a 19-month-old girl presenting with gross motor delays, hypotonia, diminished deep tendon reflexes, hyperCKaemia, extensive white matter changes on MRI brain, and electromyography studies consistent with myopathy. The differential diagnosis for infantile-onset hypotonia and muscle weakness is broad. It includes numerous subtypes of genetic disorders, including congenital muscular dystrophies, congenital myopathies, congenital myasthenic syndromes, spinal muscular atrophy, single-gene genetic syndromes, and inborn errors of metabolism.
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