Abstract
We describe brain lesions in a patient with a monocarboxylate transporter 8 mutation. Imaging showed a high T2 lesion in the left putamen at age 3 and a right putamen lesion at age 6. Cerebrospinal fluid free thyroxine concentrations were low, with normal 3,3',5-triiodothyronine concentrations.
MeSH terms
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Atrophy / genetics
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Child
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Humans
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Male
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Monocarboxylic Acid Transporters / genetics*
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Mutation / genetics*
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Putamen / pathology*
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Symporters
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Thyrotropin / cerebrospinal fluid
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Thyroxine / cerebrospinal fluid*
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Triiodothyronine / cerebrospinal fluid
Substances
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Monocarboxylic Acid Transporters
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SLC16A2 protein, human
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Symporters
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Triiodothyronine
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Thyrotropin
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Thyroxine