MCT8 - AHDS Foundation

Clinical Course and Images of Four Familial Cases of Allan-Herndon-Dudley Syndrome With a Novel Monocarboxylate Transporter 8 Gene Mutation

Satoru Kobayashi MD, PhD, Akira Onuma MD, PhD, Takehiko Inui MD, Keisuke Wakusawa MD, PhD, Soichiro Tanaka MD, Keiko Shimojima MD, PhD, Toshiyuki Yamamoto MD, PhD, Kazuhiro Haginoya MD, PhD

BACKGROUND: Allan-Herndon-Dudley syndrome, an X-linked condition characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia, is associated with defects in the monocarboxylate transporter 8 gene (MCT8). The long-term prognosis of Allan-Herndon-Dudley syndrome remains uncertain. PATIENTS: We describe the clinical features and course of four adults in a family with Allan-Herndon-Dudley syndrome with athetoid type cerebral palsy. RESULTS:We identified an MCT8 gene mutation in this family. Two of the four affected family members died at 32 and 24 years of age. CONCLUSIONS: Individuals with Allan-Herndon-Dudley syndrome are at increased risk for recurrent infection, such as aspiration pneumonia. These individuals require careful management with consideration for this increased risk of recurrent infection.