Clinical and pathological findings in two Italian siblings of Romani ancestry with charcot-marie-tooth type 4D and review of the current literature.
Elena Abati, Carola Rita Ferrari Aggradi, Stefania Magri et al.
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Case in brief
A 38-year-old man and his 40-year-old sister, both of Romani ancestry, had CMT4D associated with a homozygous NDRG1 p.(Arg148*) variant. They showed severe sensorimotor neuropathy with weakness, muscle atrophy, areflexia, and sensorineural deafness. Both also had severe dysphagia requiring PEG placement, bilateral vocal cord paralysis with respiratory insufficiency requiring non-invasive ventilation, and cognitive delay. Visual evoked potentials were abnormal, with reduced P100 amplitude or absent responses. These findings broaden the reported clinical features of CMT4D.
What made this case unusual
The siblings had severe bulbar dysfunction and respiratory involvement from bilateral vocal cord paralysis, alongside visual evoked potential abnormalities—features the authors describe as previously unreported in CMT4D.
Diagnostic / clinical pearl
CMT4D may involve swallowing, vocal cord function, respiration, and visual pathways in addition to peripheral neuropathy and hearing loss; these features were present in this sibling pair.
Why it matters
The report supports assessing swallowing, vocal cord function, and pulmonary function in patients with CMT4D, as these manifestations may affect clinical management and prognosis.