Clinical Course and Images of Four Familial Cases of Allan-Herndon-Dudley Syndrome With a Novel Monocarboxylate Transporter 8 Gene Mutation
| Autor: | Satoru Kobayashi, Kazuhiro Haginoya, Takehiko Inui, Keiko Shimojima, Soichiro Tanaka, Akira Onuma, Keisuke Wakusawa, Toshiyuki Yamamoto |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male Monocarboxylic Acid Transporters Pediatrics medicine.medical_specialty Pathology Gene mutation Aspiration pneumonia Cerebral palsy Young Adult Dysarthria Fatal Outcome Developmental Neuroscience Intellectual disability medicine Spastic Humans Family Allan–Herndon–Dudley syndrome Symporters business.industry Brain medicine.disease Magnetic Resonance Imaging Pedigree Muscular Atrophy Neurology Mutation Pediatrics Perinatology and Child Health Mental Retardation X-Linked Muscle Hypotonia Female Neurology (clinical) medicine.symptom Paraplegia business |
| Zdroj: | Pediatric Neurology. 51:414-416 |
| ISSN: | 0887-8994 |
| DOI: | 10.1016/j.pediatrneurol.2014.05.004 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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