Chest
Special Reports: ArticlesPulmonary Lymphangioleiomyomatosis and Cerebrotendinous Xanthomatosis: Is There a Link?
Section snippets
Case Report
A 41-year-old woman with no history of lung disease was examined because of progressive exercise-induced dyspnea (without coughing, wheezing, pain, or fever) that had started about 5 months before admission. Her medical history mentioned a progressive spastic paresis, cognitive deterioration, and a bilateral cataract, caused by CTX, which was diagnosed 4 years before. The diagnosis of CTX was genetically confirmed (homozygote for a point mutation in exon 5 of the human sterol 27 hydroxylase gene
Discussion
Pulmonary LAM is an extremely rare disease afflicting women of childbearing age. Because of its rarity, literature on this disease is mostly anecdotal. Recently, two reports on larger series of patients with LAM have been published.2,3 LAM usually presents with spontaneous pneumothorax, chylothorax, hemoptysis, or slowly progressive dyspnea. The diffuse distribution instead of a macronodular appearance, on a chest radiography and histologically, differentiates LAM from benign metastasizing
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Cited by (6)
Cerebrotendinous xanthomatosis: Controversies about nerve and muscle: Observations in ten patients
2000, Neuromuscular DisordersNatural history of neurological abnormalities in cerebrotendinous xanthomatosis
2018, Journal of Inherited Metabolic DiseaseXanthomatosis in bilateral hands mimicking rheumatoid arthritis: A case report
2017, Medicine (United States)Cerebrotendinous xanthomatosis: A critical update
2008, Future NeurologyCerebrotendinous xanthomatosis, a treatable metabolic disorder
2002, NervenarztMetastatic endometrial stromal sarcoma masquerading as pulmonary lymphangioleiomyomatosis
1999, Journal of Clinical Pathology
revision accepted December 20.