Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature
| Autor: | Margherita Nosadini, Nella Augusta Greggio, Stefano Sartori, Agnese Suppiej, Sara Azzolini, Rodica Mardari, Marta Balzarin, Irene Toldo |
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| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: |
Male
Monocarboxylic Acid Transporters Pathology medicine.medical_specialty Magnetic Resonance Spectroscopy Muscle Hypotonia Central hypotonia NO White matter Dysarthria Developmental Neuroscience Neuroimaging Spastic medicine Humans magnetic resonance imaging Frameshift Mutation Allan-Herndon-Dudley syndrome neuroimaging magnetic resonance imaging MRI Myelin Sheath Allan-Herndon-Dudley syndrome Allan–Herndon–Dudley syndrome neuroimaging Symporters medicine.diagnostic_test Brain Infant Magnetic resonance imaging General Medicine medicine.disease Muscular Atrophy medicine.anatomical_structure Pediatrics Perinatology and Child Health Mental Retardation X-Linked Neurology (clinical) medicine.symptom Psychology MRI |
| Popis: | Introduction: Allan–Herndon–Dudley syndrome is an X-linked condition caused by mutations of the monocarboxylate transporter 8 gene. This syndrome is characterized by axial hypotonia, severe mental retardation, dysarthria, athetoid movements, spastic paraplegia, and a typical thyroid hormone profile. In most of the cases reported so far, brain magnetic resonance imaging showed delayed myelination of the central white matter and this finding greatly affects the diagnosis of the syndrome. Case report: We present a new case studied with magnetic resonance imaging and spectroscopy and we reviewed all the articles published between 2004 and 2012 containing information on brain neuroimaging in this syndrome. An Italian boy, showing a classical phenotype of the syndrome, was diagnosed at 17 months of age. Genetic analysis revealed a new frameshift mutation of the monocarboxylate transporter 8 gene. His brain magnetic resonance imaging and spectroscopy, performed at the age of 14 months, were normal. Discussion: Among the 33 cases reported in the literature, 3 cases had normal neuroimaging and in 7 of 14 cases, having a longitudinal follow-up, the initial finding of delayed myelination gradually improved. Our case and the review of the pertinent literature suggest that Allan–Herndon–Dudley syndrome should be suspected in males with the typical neurological and thyroid profile, even in cases with normal brain myelination. |
| Databáze: | OpenAIRE |
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