Skeletal fluorosis (SF) is an osteosclerotic metabolic bone disorder caused by excessive ingestion or inhalation of fluoride. SF is extremely rare in developed countries. We report a case of SF due to inhalational abuse from a fluoride-containing air dust cleaner. A 33-year-old man with no past medical history presented with progressively worsening low back pain for 2 years. Physical examination was notable for loss of lumbar lordosis and tenderness over the lumbar spine. Radiographs were notable for uniform generalized osteosclerosis in the long bones, entire spine, rib cage, and pelvic bones, and loss of the normal lumbar curvature. DXA scan showed Z-scores of +10.7 at the lumbar spine, +6.5 at the total hip, and +1.0 at the 1/3 radius. Laboratory studies were notable for elevated serum alkaline phosphatase (334 U/L, ref: 40-129 U/L) compared to a normal value 3 years prior, suggesting acquired osteosclerosis. Serum fluoride concentration returned elevated (2.8 mg/L, ref: 0.0-0.2 mg/L). Initially, the source of fluoride excess could not be identified. At a follow-up visit, he was found inhaling from a can of an air duster hidden in an inner pocket. He admitted "huffing" 2-7 cans weekly from a fluorocarbon-containing air dust cleaner for the past 3 years to achieve a euphoric feeling, explaining the source of his SF. Fluoride inhalation can be a potential source for SF, and should be suspected in patients with acquired osteosclerosis, as inhalant abuse is increasingly practiced in many countries.
Sinus of Valsalva aneurysm (SVA) is defined as a weakness in the aortic valve wall, immediately above the attachments of each of the aortic cusps. This weakness can rupture and create an aortocardiac fistula. There are many congenital heart defects associated with chromosome 22q11 deletion, especially involving the aortic arch and its branches. SVA is not an anomaly usually associated with chromosome 22 deletion. We report the case of a 19-year-old female who presented to our institution with SVA rupture. She was subsequently diagnosed with chromosome 22q11 deletion syndrome. Despite dysmorphic facial features and a learning disability, our patient had not been diagnosed with the chromosome abnormality. SVA is a rare congenital heart defect and has only once previously been reported in a child with a chromosome 22q11 deletion. We report the first case where aneurysm rupture preceded the chromosomal findings. Chromosome 22q11 deletion could be missed due to either the unfamiliarity of physicians with the syndrome or the variability and subtlety of the phenotype. This was demonstrated by our patient who, at age 19 after presenting with an SVA rupture, prompted physicians to find an explanation for her coexisting dysmorphic features and her learning disability.
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