Results 131 to 140 of about 54,719 (217)
Journal of Medical Case ReportsBackground Neurofibromatosis type 1 is an autosomal-dominant disease characterized by café-au-lait spots and neurofibromas, as well as various other symptoms in the bones, eyes, and nervous system.
Akihiko Ueda +9 more
doaj +1 more source
Updated nomenclature for human and mouse neurofibromatosis type 1 genes [PDF]
, 2017 Anastasaki, Corina +3 more
core +2 more sources
Lymphangioma‐Induced Macroglossia in an Adolescent: A Case Report
Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT Lymphangioma is a congenital malformation of the lymphatic system, commonly affecting the head and neck region. Macroglossia due to lymphangioma in adolescence is uncommon, making this case noteworthy. This condition can affect oral function, speech, and quality of life, making early diagnosis and intervention essential. This report highlights
Arezoo Heidary, Mojtaba Mehrabanian
wiley +1 more source
Case Report: Parapharyngeal Leiomyosarcoma Mimicking Neurofibroma
Clinical Case Reports, Volume 14, Issue 3, March 2026.Neurofibroma and leiomyosarcomas are rare tumors of the head and neck with similar imaging characteristics of T2 hyperintensity on MRI that can present with neurological deficits. However, leiomyosarcomas are malignant, and early diagnosis is critical to improved survival. Immunohistochemistry is crucial for assigning line of differentiation in spindle
Carson Brantley +3 more
wiley +1 more source
Schwannomatosis of the Spinal Accessory Nerve: A Case Report. [PDF]
, 2019 Schwannomatosis is a distinct syndrome characterized by multiple peripheral nerve schwannomas that can be sporadic or familial in nature. Cases affecting the lower cranial nerves are infrequent.
Chin, Cynthia T +4 more
core
Cancer Reports, Volume 9, Issue 3, March 2026.ABSTRACT Background The malignant glioma, as the most common and aggressive primary brain and spinal cord neoplasm, has shown limited responsiveness to available treatments, including tumor dissection, radiation, and chemotherapy. Thus, interferon type I, as a supplemental therapy, is added to the main therapies to overcome neoplasm resistance and ...
Nima Goudarzi +4 more
wiley +1 more source
Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series
Annals of the Child Neurology Society, Volume 4, Issue 1, Page 95-100, March 2026.ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi +6 more
wiley +1 more source
Non‐Functional Paraganglioma of the Urinary Bladder: A Rare Cause of Bladder Tumor
IJU Case Reports, Volume 9, Issue 2, March 2026.ABSTRACT Introduction Paragangliomas of the urinary bladder (PUBs) are rare neuroendocrine tumors, representing less than 0.06% of all bladder neoplasms. While most are functional and associated with catecholamine excess, approximately 15% are non‐functional, often presenting asymptomatically and discovered incidentally.
Matt Wainstein +4 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Aromatic ʟ‐amino acid decarboxylase (AADC) deficiency is a rare pediatric neurotransmitter disorder that typically necessitates lifelong care, and that carries a risk of childhood mortality. Eladocagene exuparvovec gene therapy is designed to restore AADC production.
Daniel J. Curry +22 more
wiley +1 more source