A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid.
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.
Kakinuma
Hiroaki
H
Department of Pediatrics, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Ishikawa 920-0293, Japan. p-kaki@kanazawa-med.ac.jp
Itoh
Masatsune
M
Takahashi
Hiroaki
H
D001284:Atrophy / Q000235:genetics; D002648:Child; D006801:Humans; D008297:Male; D027501:Monocarboxylic Acid Transporters / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011699:Putamen / Q000473:pathology*; D027981:Symporters; D013972:Thyrotropin / Q000134:cerebrospinal fluid; D013974:Thyroxine / Q000134:cerebrospinal fluid*; D014284:Triiodothyronine / Q000134:cerebrospinal fluid
D027501:Monocarboxylic Acid Transporters; C090735:SLC16A2 protein, human; D027981:Symporters; D014284:Triiodothyronine; D013972:Thyrotropin; D013974:Thyroxine