Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Charcot-Marie-Tooth disease type 4H (CMT4H) is a rare variant of autosomal recessive hereditary neuropathy. It is caused by FGD4 mutations and characterized by early infantile onset, slowly progressive distal muscle weakness, scoliosis, and myelin outfoldings visible in nerve biopsy samples. Here, we report a 65-year-old male born to consanguineous parents, who carries a novel homozygous FGD4 c.724C>T nonsense mutation. He developed lower limb weakness in his teens, which progressed slowly and was accompanied by diplopia, bilateral hearing loss, and erectile dysfunction from his twenties. At the age of 65, he was wheelchair-bound and had mild scoliosis, bilateral ophthalmoplegia, facial muscle weakness, inner ear hearing loss, distal-dominant weakness, and sensory disturbance, but no cognitive deterioration. Magnetic resonance imaging revealed enlarged bilateral trigeminal and facial nerves. Accordingly, we believe that this mutation causes slowly progressive sensorimotor neuropathy with apparent cranial nerve involvement, thereby further expanding the clinical spectrum of CMT4H.
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PMID:A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement. 2884 48

Vardenafil is a potent phosphodiesterase-5 (PDE-5) inhibitor used in the treatment of erectile dysfunction. Several cases of stroke related to the use of PDE-5 inhibitors have been reported. Here, we describe the case of a 51-year-old man with headache and right ophthalmoplegia subsequent to vardenafil consumption. Computed tomography and magnetic resonance imaging showed a suprasellar mass with hemorrhage suggesting pituitary apoplexy. He underwent transsphenoidal resection of the pituitary mass. Histopathology confirmed the diagnosis of a necrotic pituitary adenoma with hemorrhage. This report suggests a possible association between pituitary apoplexy and vardenafil use. In patients with preexisting pituitary adenoma, vardenafil may enhance the risk of pituitary apoplexy. Although headache is the most commonly reported side effect of vardenafil, pituitary apoplexy should be considered in the differential diagnosis of a patient with headache and ophthalmoplegia subsequent to vardenafil intake.
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PMID:Pituitary adenoma apoplexy associated with vardenafil intake. 3054 75