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I Think a Niece of Mine was Referred to a Neurologist: Difference between revisions
I Think a Niece of Mine was Referred to a Neurologist (view source)
Revision as of 20:11, 25 January 2010
, 25 January 2010moved I think a niece of mine was referred to a neurologist to I Think a Niece of Mine was Referred to a Neurologist
m (New page: {{NHJ| |mainauthor= '''A.A.M. Wilde, T.A. Simmers''' |edition= 2007:4,157 }} Figure 1: ECG of the patient (on valproic acid).|thumb In the setting of...) |
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[[Image: | [[Image:Puzzle_2004_6_302_fig1.jpg|Figure 1: ECG of the patient (on valproic acid).|thumb]] | ||
In the setting of family screening, an 84-year-old lady was invited for a cardiogenetic evaluation. Two of her grandchildren are known with a symptomatic long-QT syndrome type 2 based on a mutation in the KCNH2 gene (E698X). Two of her daughters, among | In the setting of family screening, an 84-year-old lady was invited for a cardiogenetic evaluation. Two of her grandchildren are known with a symptomatic long-QT syndrome type 2 based on a mutation in the KCNH2 gene (E698X). Two of her daughters, among | ||
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nor their children and grandchildren had had any complaints. Just before leaving our clinic, she suddenly remembered that a 14-year-old niece (a daughter of one of her youngest sister’s sons) had been seen by a neurologist because of syncope. Because every syncope in a family member is suspect, it is our policy to ask for an ECG. | nor their children and grandchildren had had any complaints. Just before leaving our clinic, she suddenly remembered that a 14-year-old niece (a daughter of one of her youngest sister’s sons) had been seen by a neurologist because of syncope. Because every syncope in a family member is suspect, it is our policy to ask for an ECG. | ||
The ECG was taken and sent to us (figure 1). It turned out to be of a 14-year-old girl who had had three episodes of syncope. The first occurred without a specific trigger at the age of 12, in the middle of the night. The second and third were probably triggered | The ECG was taken and sent to us (figure 1). It turned out to be of a 14-year-old girl who had had three episodes of syncope. The first occurred without a specific trigger at the age of 12, in the middle of the night. The second and third were probably triggered by emotion. After the third syncope she was referred to a neurologist who started valproic acid despite normal neurological evaluation (including EEG). She had no further syncope. | ||
by emotion. After the third syncope she was referred to a neurologist who started valproic acid despite normal neurological evaluation (including EEG). She had no further syncope. | |||
'''The question now is whether further evaluation is needed.''' | '''The question now is whether further evaluation is needed.''' | ||
[[Puzzle 2004_10_469 - Answer|Answer]] | |||