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1.
Gynecol Oncol Rep ; 42: 101034, 2022 Aug.
Article in English | MEDLINE | ID: mdl-35800986

ABSTRACT

GLMN is a gene that encodes a critical protein necessary for normal vascular development. Mutations of GLMN predispose individuals to development of glomangiomas, with nearly 100% penetrance by age 30. Glomangiomas are tumors of the glomus body, a thermoregulatory arterial-venous shunt composed of modified smooth muscle cells. Vulvar glomangioma is an exceedingly rare cause of chronic pelvic pain, that may be easily confused for other conditions such as Bartholin's gland abscess or deep angiomxyomas, thereby delaying diagnosis and treatment. Glomangiomas have characteristic pathologic and imaging findings which may aid diagnosis. We herein describe the case of a 24-year-old female who developed chronic pelvic pain in the setting of a vulvar glomangioma. We further delineate the magnetic resonance imaging and biopsy findings critical to her diagnosis, and the appropriate steps taken for surgical management. She was found to harbor a heterozygous GLMN mutation. To the best of our knowledge, this is the first description of such a case in the medical literature.

2.
Semin Pediatr Neurol ; 41: 100955, 2022 04.
Article in English | MEDLINE | ID: mdl-35450671

ABSTRACT

Functional neurological disorder is neurological dysfunction not primarily explained by pathophysiologic or structural abnormalities and can present in children and adolescents with limb weakness, gait abnormality, non-epileptic seizures or sensory changes. In this review article we focus primarily on the diagnosis of functional limb weakness and functional gait disorders, and how to differentiate functional neurological disorders from structural or pathologic neurological presentations of weakness or gait disturbance. Detailed history and attentive observation of a patient outside of the formal neurological examination can be pertinent to identifying inconsistency and incongruency in keeping with functional neurological presentations. Understanding of structural and physiologic neurological pathology is required to identify non-anatomical and non-pathological features consistent with a diagnosis of functional neurological disorder. Diagnosis is made on recognition of positive clinical features of a functional disorder on examination and is not based primarily on exclusion of a pathologic neurological disorder. Specific tests can be performed to elicit pathognomonic findings supportive of a diagnosis of functional limb weakness and gait disorders.


Subject(s)
Conversion Disorder , Adolescent , Child , Conversion Disorder/diagnosis , Gait , Humans , Muscle Weakness/diagnosis , Neurologic Examination , Paresis , Seizures
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