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J Peripher Nerv Syst. 2015 Dec;20(4):415-8. doi: 10.1111/jns.12148.

Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.

Author information

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.

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.

KEYWORDS:

Charcot-Marie-Tooth neuropathy type 2A; MFN2; electrophysiological study; global developmental delay

PMID:
26307494
DOI:
10.1111/jns.12148
[Indexed for MEDLINE]

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