Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sialidosis is an autosomal recessive disease caused by neuraminidase deficiency, which causes material rich in sialic acid to accumulate in various tissues and organs, leading to morphological and functional changes. Mainly the osteoarticular, cardiorespiratory, and central nervous systems are affected. We report the case of a 14-year-old boy diagnosed with sialidosis type 2 who was proposed for spinal column arthrodesis to treat severe thoracolumbar scoliosis. Physical examination revealed pectus carinatum; facial deformity and macroglossia; hypertelorism and frontal bossing; short neck; atlantoaxial subluxation; severe arthrogryposis of elbows, knees and wrists, coxa valga, and club foot. Relevant medical history included moderately severe aortic valve insufficiency and myoclonic epilepsy. Surgery was performed under balanced anesthesia. Awakening was delayed and the patient was transferred to the intensive care unit under mechanical ventilation. Anesthetic problems that can present in patients with such deformities include difficult airway, complicated management of associated cardiopathy, and difficult weaning from mechanical ventilation.
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PMID:[Anesthetic management of a boy with sialidosis]. 1671 1