FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
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| Title: | FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy. |
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| Authors: | Masnada, Silvia (AUTHOR), Previtali, Roberto (AUTHOR), Erba, Paola (AUTHOR), Beretta, Elena (AUTHOR), Camporesi, Anna (AUTHOR), Chiapparini, Luisa (AUTHOR), Doneda, Chiara (AUTHOR), Iascone, Maria (AUTHOR), Sartorio, Marco U. A. (AUTHOR), Spaccini, Luigina (AUTHOR), Veggiotti, Pierangelo (AUTHOR), Osio, Maurizio (AUTHOR), Tonduti, Davide (AUTHOR), Moroni, Isabella (AUTHOR) |
| Source: | Neurological Sciences. Sep2023, Vol. 44 Issue 9, p3037-3043. 7p. 1 Black and White Photograph, 1 Chart. |
| Subjects: | Peripheral neuropathy, Differential diagnosis, Neurological disorders, Symptoms, Developmental delay, Auditory neuropathy |
| Abstract: | Background and aims: Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of phenotypes. The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures. The review of clinical findings in previously described cases from literature reveals also a significant incidence of sensorimotor peripheral polyneuropathy (22.72%) and ataxia (43.18%). To date, 44 patients with FDXR mutations have been reported. We describe here on two new patients, siblings, who presented with a quite different phenotype compared to previously described patients. Methods: Clinical, neurophysiological, and genetic features of two siblings and a systematic literature review focused on the clinical spectrum of the disease are described. Results: Both patients presented with an acute–sub-acute onset of peripheral neuropathy and only in later stages of the disease developed the typical features of FDXR-associated disease. Interpretation: The peculiar clinical presentation at onset and the evolution of the disease in our patients and in some cases revised from the literature shed lights on a new possible phenotype of FDXR-associated disease: a peripheral neuropathy which can mimic an acute inflammatory disease. [ABSTRACT FROM AUTHOR] |
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| Database: | Psychology and Behavioral Sciences Collection |
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| Abstract: | Background and aims: Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of phenotypes. The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures. The review of clinical findings in previously described cases from literature reveals also a significant incidence of sensorimotor peripheral polyneuropathy (22.72%) and ataxia (43.18%). To date, 44 patients with FDXR mutations have been reported. We describe here on two new patients, siblings, who presented with a quite different phenotype compared to previously described patients. Methods: Clinical, neurophysiological, and genetic features of two siblings and a systematic literature review focused on the clinical spectrum of the disease are described. Results: Both patients presented with an acute–sub-acute onset of peripheral neuropathy and only in later stages of the disease developed the typical features of FDXR-associated disease. Interpretation: The peculiar clinical presentation at onset and the evolution of the disease in our patients and in some cases revised from the literature shed lights on a new possible phenotype of FDXR-associated disease: a peripheral neuropathy which can mimic an acute inflammatory disease. [ABSTRACT FROM AUTHOR] |
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| ISSN: | 15901874 |
| DOI: | 10.1007/s10072-023-06790-0 |
