Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0155339 (Brown)
 12,436 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 8-year-old Brown Swiss dairy cow was presented with unilateral epistaxis and mild inspiratory stridor. At that time endoscopic examination revealed a smooth-surfaced mass within the left nasal cavity. Biopsy samples were collected and a diagnosis of fibrosarcoma was made. Eighteen months later the animal developed severe respiratory distress that led to difficulties in feeding and consequently to emaciation and a dramatic drop in milk production. The cow was humanely destroyed and submitted for post-mortem examination. The head was subject to further investigation by radiography, computed tomography and magnetic resonance imaging. These techniques revealed a non-infiltrative, well-circumscribed mass of both radiodense and heterogeneously intense structures. Histopathological examination revealed a mass consisting of well-differentiated and interlacing bone trabeculae lined by osteoblasts and multinucleated osteoclasts. In contrast to the initial diagnosis, the later diagnostic approaches supported the diagnosis of osteoma.
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PMID:Nasal osteoma in a dairy cow: a combined clinical, imaging and histopathological approach to diagnosis. 1953 51

This report describes the first case of a child with genetically confirmed Brown-Vialetto-van Laere syndrome in sub-Saharan Africa. This is an extremely rare clinical condition that presents with an auditory neuropathy, bulbar palsy, stridor, muscle weakness, and respiratory compromise that manifests with diaphragmatic and vocal cord paralysis. It is an autosomal recessive condition for which the genetic mutation has only recently been linked to a riboflavin transporter deficiency. We describe an 11-month-old affected male infant. He has required long-term respiratory support and a gastrostomy tube to support feeding. With high-dose riboflavin supplementation, he had limited recovery of motor function. His respiratory chain enzyme studies were abnormal suggestive of mitochondrial (mt) dysfunction. In the setting of limited resources, recognition of this striking clinical phenotype is important to highlight, specifically regarding the genetic implications of the condition and the potentially remedial response to vitamin supplementation.
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PMID:The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa. 2996 7