Hypotonic male infant and MCT8 deficiency - a diagnosis to think about

BMC Pediatrics

Jaume Colomer²  Judith Armstrong¹  Monica M-Belinchón⁴  Beatriz Morte⁴  Andrés Nascimento²  Carlos Ortez²  Joana Grenha³  Filipa Rodrigues³ 

[1] Biochemical Genetics&Rett Unit, Laboratory Department, Hospital Materno-Infantil Sant Joan de Déu, Barcelona, Spain;Center for Biomedical Research on Rare Diseases (CIBERER), ICIII, Madrid, Spain;Neuromuscular Unit, Neurology Department, Fundación Sant Joan de Déu, Hospital Materno-Infantil Sant Joan de Déu, Passeig Sant Joan de Déu, 2. 08950 Esplugues de Llobregat, Barcelona, Spain;Instituto de Investigaciones Biomédicas Alberto Sols, Consejo Superior de Investigaciones Científicas - Universidad Autónoma de Madrid, Madrid, Spain

关键词: Allan-Herndon-Dudley syndrome;    MCT8;    Thyroid hormones;    Hypotonic infant;   

Others  :  1121240
DOI  :  10.1186/1471-2431-14-252

 received in 2014-06-28, accepted in 2014-10-01,  发布年份 2014

【 摘 要 】

Background

Thyroid hormone is crucial in the development of different organs, particularly the brain. MCT8 is a specific transporter of triiodothyronine (T₃) hormone and MCT8 gene mutations cause a rare X-linked disorder named MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome, characterized by psychomotor retardation and hypotonia. Typically, elevation of T₃ and delayed myelination in cerebral magnetic resonance imaging are found.

Case presentation

We present a 24-month-old boy, born from non-consanguineous healthy parents, with severe motor and cognitive delay and global hypotonia, being unable to hold head upright or sit without support. Deep tendon reflexes were absent bilaterally at the ankles. T₃ was elevated and thyroxine slightly decreased, consistent with MCT8 deficiency. Genetic studies confirmed the diagnosis.

Conclusions

Although a rare disease (MCT8 mutations have been reported in about 50 families all around the world), we illustrate the importance of excluding Allan-Herndon-Dudley syndrome in the evaluation of floppy male infants with development delay, without history of perinatal asphyxia. The simple evaluation of thyroid status, including T₃, T₄ and TSH can guide the diagnosis, avoiding a number of useless, expensive and invasive investigations and allowing appropriate genetic counseling to the affected families.

【 授权许可】

   
2014 Rodrigues et al.; licensee BioMed Central Ltd.

【 图 表 】

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