A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid

Hiroaki Kakinuma; Masatsune Itoh; Hiroaki Takahashi

doi:10.1016/j.jpeds.2005.05.012

A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid

J Pediatr. 2005 Oct;147(4):552-4. doi: 10.1016/j.jpeds.2005.05.012.

Authors

Hiroaki Kakinuma¹, Masatsune Itoh, Hiroaki Takahashi

Affiliation

¹ Department of Pediatrics, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Ishikawa 920-0293, Japan. p-kaki@kanazawa-med.ac.jp

PMID: 16227048
DOI: 10.1016/j.jpeds.2005.05.012

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.

Publication types

Case Reports

MeSH terms

Atrophy / genetics
Child
Humans
Male
Monocarboxylic Acid Transporters / genetics*
Mutation / genetics*
Putamen / pathology*
Symporters
Thyrotropin / cerebrospinal fluid
Thyroxine / cerebrospinal fluid*
Triiodothyronine / cerebrospinal fluid

Substances

Monocarboxylic Acid Transporters
SLC16A2 protein, human
Symporters
Triiodothyronine
Thyrotropin
Thyroxine