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.

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Bibliographische Detailangaben
Veröffentlicht in:	The Journal of pediatrics 2005-10, Vol.147 (4), p.552-554
Hauptverfasser:	KAKINUMA, Hiroaki, ITOH, Masatsune, TAKAHASHI, Hiroaki
Format:	Artikel
Sprache:	eng
Schlagworte:	Atrophy - genetics Biological and medical sciences Child General aspects Humans Male Medical sciences Monocarboxylic Acid Transporters - genetics Mutation - genetics Putamen - pathology Thyrotropin - cerebrospinal fluid Thyroxine - cerebrospinal fluid Triiodothyronine - cerebrospinal fluid
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Beschreibung
Zusammenfassung:	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.
ISSN:	0022-3476 1097-6833
DOI:	10.1016/j.jpeds.2005.05.012