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Periventricular Nodular Heterotopias Induced-Seizures in an Adolescent.
Cureus
December 2024
Pediatrics, Unidade Local de Saúde do Algarve-Hospital de Faro, Faro, PRT.
A female adolescent with no relevant past history was admitted to the Pediatric Emergency Department with two episodes of seizures without trauma, fever, or other symptoms. Head-MRI revealed bilateral subependymal nodular irregularities lining the lateral ventricles, with similar signal evolution to grey matter, confirming the diagnosis of periventricular nodular heterotopias (PVNH). Genetic testing revealed a Filamin A ( variant; family studies were negative.
View Article and Find Full Text PDFImaging in atypical van der knaap disease with subependymal nodular heterotopia: A case report.
Radiol Case Rep
February 2025
Junior Resident, Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences Hospital and Research Centre, Rajiv Gandhi University of Health Sciences, Bangalore, 560004, Karnataka, India.
Here, we discuss a rare and to our knowledge, the first case of an atypical Van der Knaap's disease in a 6-year-old boy who presented with motor difficulties, developmental delay, cognitive impairment, seizures. The objective of this report is to highlight its unusual findings on MRI including internal capsule, brainstem, cerebellum involvement; subependymal nodular heterotopia, subependymal cysts, cortical laminar necrosis along with typical findings of megalencephalic leukoencephalopathy and subcortical cysts. The study also underscores the clinical implications of this complex pathology, with emphasis on comprehensive neuroradiological evaluation for atypical presentations to guide better diagnostic and management outcomes.
View Article and Find Full Text PDFPrenatal Diagnosis and Outcomes of Cervical Meningocele and Myelomeningocele.
J Med Ultrasound
January 2024
Department of Obstetrics and Gynecology, New Taipei Municipal Tucheng Hospital, New Taipei, Taiwan.
Prenatal diagnosis of myelomeningocele remains challenging for obstetricians, ultrasonographers, and radiologists, although the increased maternal serum alpha-fetoprotein level aids in the confirmative diagnosis. Fetal cervical myelomeningocele and meningocele are very rare and unique types of myelomeningocele. Prenatal diagnosis of cervical myelomeningocele and meningocele should include the differential diagnosis and association of many intracranial and spino-skeletal pathogenetic variants and genetic diseases, including subependymal nodular heterotopia and Klippel-Feil syndrome.
View Article and Find Full Text PDFTuberous sclerosis complex: A clinical diagnosis in Ethiopian patients.
Medicine (Baltimore)
February 2024
Department of Radiology, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.
Article Synopsis
- - Tuberous sclerosis complex (TSC) is a rare genetic disorder causing nonmalignant growths in various organs, with delayed diagnosis often resulting from a lack of physician familiarity.
- - Two patients, a 27-year-old man with kidney issues and a 28-year-old woman with seizures, were diagnosed with TSC through established diagnostic criteria and exhibited various skin lesions.
- - Both patients were advised to receive ongoing care: the male was referred to a chronic illness clinic, while the female was scheduled for dermatological treatment for her facial lesions.
Sinus of Valsalva Aneurysm: A Potential Case of Filamin A Mutation.
Cureus
September 2023
Cardiology, Royal Cornwall Hospitals, Truro, GBR.
Filamin A is a protein essential for cytoskeleton production, encoded by the X-lined dominantly inherited FLNA gene. A deficiency in filamin A can lead to cardiac valvular dysplasia and periventricular nodular heterotopia in the brain. Notably, periventricular heterotopia Type 1 has associations with cardiovascular abnormalities.
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