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Case Reports
. 2005 Oct;20(10):852-7.
doi: 10.1177/08830738050200101601.

X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype

Kenton R Holden  1 , Oscar F Zuñiga, Melanie M May, Humberto Su, Marco R Molinero, R Curtis Rogers, Charles E Schwartz
Affiliations
Case Reports

X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype

Kenton R Holden et al. J Child Neurol. 2005 Oct.

Abstract

We report a family with X-linked mental retardation that has a novel mutation in the monocarboxylate transporter 8 (MCT8) gene associated with a characteristic neurodevelopmental phenotype with early childhood hypotonia that progresses to spasticity and global developmental delays. Affected patients experience moderate to severe psychomotor delays and congenital hypotonia, develop a myopathic facies, have diminished muscle bulk and generalized muscle weakness, develop progressive spasticity and movement disorders, and have limited speech but alert, affable personalities. Acquired microcephaly and abnormal myelination on brain magnetic resonance imaging can be present. Normal monocarboxylate transporter 8 gene functioning appears to be necessary for normal thyroid-associated metabolism in neurons. Abnormal thyroid function tests appear to be a consistent finding in the absence of typical signs of thyroid dysfunction. Although the phenotype appears to be consistent, and although the neurotoxic effects of abnormal central and peripheral neuromuscular system thyroid metabolism might be partly or wholly responsible for the neurologic phenotype reported, the exact mechanism remains unclear.

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