2014年6月5日木曜日

Spot Diagnosis

タイトルは、"Snap Diagnosis"と同意だが、"café-au-lait spot"と掛けたのでしょうね。Pinterestに"Medicine - Spot diagnosis"のボードがありました。
A CLINICAL PROBLEM-SOLVING article by Zornitza Stark from Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
An 8-year-old girl was brought to the emergency department after she had a 10-minute episode of incomprehensible speech and blank staring, as well as a 30-second “collapse” associated with a generalized tonic–clonic seizure. MRI of the brain showed a space-occupying lesion in the left superior temporal gyrus. Neurosurgical resection of the lesion confirmed the diagnosis of glioblastoma multiforme. Despite the poor prognosis typically associated with glioblastoma multiforme, she remained well, and over subsequent years, more than 100 lentigines and two café-au-lait macules developed . The lentigines were distributed primarily over the patient's face, trunk, and upper arms.
Pigmented skin lesions are common, but given the previous diagnosis of glioblastoma multiforme, the presence of multiple lentigines and café-au-lait macules in this case raises the suspicion of an underlying systemic disorder.
The family history revealed that the patient was the youngest of three siblings. The brother who was now 17 years of age and had a history of precursor B-cell acute lymphoblastic leukemia, was found to have one café-au-lait macule and multiple lentigines with a distribution pattern that was similar to that of the patient. In this case, a clinical scenario is described in which skin findings were the clue to a familial cancer-predisposition disorder and led to the early diagnosis of a potentially fatal disease in a sibling of the index patient. (251 words)

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