Abstract:
AIM:Mutations in the SLC16A2 gene have been implicated in Allan-Herndon-Dudley syndrome (AHDS), an X-linked learning disability* syndrome associated with thyroid function test (TFT) abnormalities. Delayed myelination is a non-specific finding in individuals with learning disability whose genetic basis is often uncertain. The aim of this study was to describe neuroimaging findings and neurological features in males with SLC16A2 gene mutations. METHOD:We reviewed brain magnetic resonance imaging (MRI) findings and neurological features in a cohort of five males aged between 1 year 6 months and 6 years (median 4y) from four families harbouring SLC16A2 gene mutations. RESULTS:The participants presented aged between 4 and 9 months with initial hypotonia and subsequent spastic paraparesis with dystonic posturing and superimposed paroxysmal dyskinesias. Dystonic cerebral palsy was the most common initial clinical diagnosis, and AHDS was suspected only retrospectively, considering the characteristically abnormal thyroid function tests, with high serum tri-iodothyronine (T(3)), as the most consistent finding. Brain MRI showed absent or markedly delayed myelination in all five participants, prompting the suspicion of Pelizaeus-Merzbacher disease in one patient. INTERPRETATION:Our findings indicate a consistent association between defective neuronal T(3) uptake and delayed myelination. SLC16A2 involvement should be considered in males with learning disability, an associated motor or movement disorder, and evidence of delayed myelination on brain MRI. Although dysmorphic features suggestive of AHDS are not always present, T(3) measurement is a reliable screening test.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Gika AD,Siddiqui A,Hulse AJ,Edward S,Fallon P,McEntagart ME,Jan W,Josifova D,Lerman-Sagie T,Drummond J,Thompson E,Refetoff S,Bönnemann CG,Jungbluth Hdoi
10.1111/j.1469-8749.2009.03471.xsubject
Has Abstractpub_date
2010-05-01 00:00:00pages
475-82issue
5eissn
0012-1622issn
1469-8749pii
DMCN3471journal_volume
52pub_type
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