Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a third case with neurofibromatosis type 1 (NF1) due to mosaicism for a gross deletion in 17q11.2 covering the entire NF1 gene. The deletion was suspected in Giemsa banded chromosomes and was confirmed by fluorescence in situ hybridization using the cosmids CO919 from the 5' region, GO2121 from the central, H10410 from the 3' region of the NF1 gene, and the 1.7-Mb YAC 947G11 spanning the entire 350-kb genomic DNA of the NF1 gene. The deletion was present in 33% of peripheral blood lymphocytes and 58% of fibroblasts. The clinical manifestations in this 6-year-old male patient were especially severe and extended beyond the typical features of NF1. The patient also displayed facial anomalies, severe and early-onset psychomotor retardation, seizures, spasticity, and microcephaly. These features differ from other large-deletion NF1 patients, even nonmosaic cases. The complex phenotype could be explained by the involvement of coding sequences flanking the NF1 gene, thus supporting the existence of a contiguous gene syndrome in 17q11.2.
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PMID:Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2. 1052 40

Arteriovenous fistulas can rarely occur in patients with neurofibromatosis type 1. These lesions typically result from traumatic insult to the dysplastic parent artery. The damaged artery forms abnormal connections with nearby paraspinal and epidural venous structures. Surgical treatment of these lesions can be extremely challenging given the proximity to the spinal cord and the ability of the fistula to recruit vessels from adjacent vascular structures. A 29-year-old woman with neurofibromatosis type 1 and a motor vehicle collision 2 years earlier presented with gait difficulty, lower extremity spasticity and neck and arm pain. Her investigation revealed a giant cervical vertebral arteriovenous fistula. The fistula was successfully treated in multiple stages using all endovascular techniques including detachable coils, stents and glue embolisation. Reduction in flow and improvement in symptoms are reasonable goals in this specific rare subgroup of complex cervical arteriovenous fistulae.
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PMID:Rare giant traumatic cervical arteriovenous fistula in neurofibromatosis type 1 patient. 2274 60