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Ovarian tissue cryopreservation for a girl with combined severe hemolytic anemia due to pyruvate kinase deficiency: a case report and literature review.
Gynecol Endocrinol
December 2024
Department of Gynecological Endocrinology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.
Objective: To present a young girl with pyruvate kinase deficiency (PKD) and concurrent severe hemolytic anemia who underwent fertility preservation and cryopreservation. Clinical symptoms, diagnosis, treatment, and new strategies for fertility protection and preservation in PKD patients who require allogeneic hematopoietic stem cell therapy are explored.
Case Presentation: Six-year-old girl with persistent unconjugated hyperbilirubinemia and severe hemolytic anemia since birth, continuous elevation of bilirubin levels and severe splenomegaly.
Ovoid foveal hyperreflective lesions as a sign of familial adenomatous polyposis: A case series and review.
Am J Ophthalmol Case Rep
December 2024
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17 Street, Miami, FL 33136, USA.
Purpose: To report 2 cases of presumed retinal hamartoma (RH) in pediatric patients with genetically-confirmed familial adenomatous polyposis (FAP), both evaluated by optical coherence tomography (OCT) and one evaluated with optical coherence tomography angiography (OCTA).
Observations: A six-year-old girl presented with occasional blurry vision in the left eye. OCT showed a foveal hyperreflective lesion with disruption of photoreceptors and retinal pigment epithelium (RPE).
Alice in Wonderland Syndrome in Children With Severe Acute Respiratory Syndrome SARS-CoV-2 Infection: A Case Series of Two Patients in an Italian Hospital.
Pediatr Neurol
January 2025
Neurorehabilitation Unit, Neurological Science and Neurorehabilitation Area, "Bambino Gesù" Children's Hospital - IRCCS, Rome, Italy.
Background: Alice in Wonderland syndrome (AIWS) is a disorienting neurological condition that affects human perception to the senses of vision, hearing, touch, and sensation and the phenomenon of time. Herein we report two pediatric cases of AIWS temporally related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection.
Case Presentation: An eight-year-old-girl without history of migraine or epilepsy experienced some episodes of visual distortions (micropsia, macropsia, and teleopsia) and misperception of sound, sometimes associated with headache.
A case of retinoblastoma masquerading as endophthalmitis: Unusual presentation and clinicopathological correlation.
Int J Surg Case Rep
October 2024
Pathology and Laboratory Medicine, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. Electronic address:
Introduction: Retinoblastoma is a serious childhood intraocular neoplasm that can be diagnosed clinically with the aid of B-scan ultrasound, and radiological examination. On the other hand, the differential diagnosis includes benign and other masquerading conditions such as uveitis and endophthalmitis thus adding challenge to the proper diagnosis.
Presentation Of Case: A six-year-old girl presented with leukocoria and decreased vision of the right eye.
Self-Limited Epilepsy With Autonomic Seizures: A Case Report.
Cureus
August 2024
Pediatric Medicine, Unidade Local de Saúde da Região de Aveiro, Aveiro, PRT.
Article Synopsis
- - A six-year-old girl experienced a seizure characterized by loss of muscle tone, drooling, and eye movement at wake-up, lasting over 5 minutes, followed by confusion and vomiting.
- - Initially misdiagnosed with acute gastroenteritis, she was later correctly diagnosed with Panayiotopoulos syndrome after another seizure, leading to appropriate treatment.
- - Ongoing follow-ups indicated normal overall intellect, but a psychological assessment showed some language-related vulnerabilities.
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