Early onset Charcot‐Marie‐Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2‐related neuropathy |
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| Authors: | Maria Tufano Gerarda Cappuccio Gaetano Terrone Fiore Manganelli Chiara Pisciotta Alessandro Geroldi Simona Capponi Ennio Del Giudice |
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| Institution: | 1. Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy;2. Department of Translational Medical Sciences, Section of Pediatrics, University Federico II of Naples, Naples, Italy;3. Department of Neurological Sciences, University Federico II of Naples, Naples, Italy;4. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Science, Section of Medical Genetics, University of Genoa, Genoa, Italy |
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| Abstract: | Charcot‐Marie‐Tooth (CMT) syndromes are a group of clinically heterogeneous disorders of the peripheral nervous system. Mutations of mitofusin 2 (MFN2) have been recognized to be associated with CMT type 2A (CMT2A). CMT2A is primarily an axonal disorder resulting in motor and sensory neuropathy. We report a male child with psychomotor delay, dysmorphic features, and weakness of lower limbs associated with electrophysiological features of severe, sensory‐motor, axonal neuropathy. The patient was diagnosed with early onset CMT2A and severe psychomotor retardation associated with c.310C>T mutation (p.R104W) in MFN2 gene. CMT2A should be considered in patients with both axonal sensory‐motor neuropathy and developmental delay. |
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| Keywords: | Charcot‐Marie‐Tooth neuropathy type 2A electrophysiological study global developmental delay MFN2 |
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