Results 81 to 90 of about 16,752 (185)
Diagnosis and treatment of occipital brain lesions in children
Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1409-1420, November 2025.Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini +4 more
wiley +1 more source
Veterinary Radiology &Ultrasound, Volume 66, Issue 6, November 2025.ABSTRACT A 4‐year‐old castrated male Pomeranian dog with a 2‐year history of necrotizing encephalitis (NE) presented for acute neurological deterioration without trauma. Magnetic resonance imaging (MRI) revealed a broad crescent‐shaped lesion with mixed signal intensities on T1‐ and T2‐weighted images, hypointense areas on T2* images, contrast ...
Eunjee Kim +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo +4 more
wiley +1 more source
Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome
American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders +11 more
wiley +1 more source
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT We report a case of hereditary spastic paraplegia type 50, an extremely rare disease characterized by upper motor neuron dysfunction. This case underscores the importance of considering genetic etiologies in patients previously diagnosed with cerebral palsy, especially when clinical history, presentation, and imaging findings are inconsistent ...
Ana Teresa Guerra +2 more
wiley +1 more source
Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT This case highlights a rare co‐existence of Morquio syndrome with bronchial asthma and myoclonic seizures, expanding the known clinical spectrum. It emphasizes the need for comprehensive, multidisciplinary management to address multisystem involvement and describes the challenges of treatment in resource‐limited settings where advanced ...
Bijay Bastola +4 more
wiley +1 more source
Diagnosing and Managing Pelizaeus‐Merzbacher Disease: A Pediatric Struggle
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT Prompt diagnosis of rare genetic conditions like Pelizaeus‐Merzbacher Disease enables timely care. Coordinated, multidisciplinary support and proactive prevention, particularly of issues like aspiration pneumonia, are vital to enhancing quality of life and outcomes, even as the disease continues to progress.
Sajjad Ahmed Khan +3 more
wiley +1 more source
Clinical Case Reports, Volume 13, Issue 10, October 2025.Post‐gadolinium enhancement of the spinal cord seen in NMO. ABSTRACT Neuromyelitis optica spectrum disorder (NMOSD) may mimic other neurological conditions, including multiple sclerosis (MS). We report a 25‐year‐old woman with hypothyroidism and depression who presented with progressive quadriparesis.
Sunil Thatal +6 more
wiley +1 more source
Infant Death due to Cannabis Ingestion
Drug Testing and Analysis, Volume 17, Issue 10, Page 2014-2021, October 2025.ABSTRACT A child died in the emergency room of a local hospital a few hours after ingesting a substance the color of cork and the consistency of earth. At home, a modest amount of resinous substance was found. At the hospital, the child exhibited alterations in walking, balance, and consciousness.
Donata Favretto +9 more
wiley +1 more source
A Novel Missense Variant of the ABCD1 Gene in X‐Linked Adrenoleukodystrophy in Chinese Family
Molecular Genetics &Genomic Medicine, Volume 13, Issue 10, October 2025.This study identifies a novel ABCD1 gene variant (c.773T>G, p.Leu258Arg) linked to X‐linked adrenoleukodystrophy in a Chinese family, demonstrating its pathogenic impact via disrupted peroxisomal localization and impaired fatty acid metabolism, thus expanding the mutation spectrum and advancing molecular diagnosis and familial genetic counseling ...
Hongxia Fu +5 more
wiley +1 more source