Affiliations: Pediatric Neurology Unit, Department of Pediatrics,
Arcispedale Santa Maria Nuova, Italy
Note: [] Correspondence: Dr. Carlo Fusco, Pediatric Neurology Unit –
Department of Pediatrics, Arcispedale Santa Maria Nuova, Viale Risorgimento 80,
42100 Reggio Emilia, Italy. Tel.: +39 522295968; Fax: +39 522296266; E-mail:
Fusco.Carlo@asmn.re.it
Abstract: A 4-year-old child presented with peripheral left facial palsy.
Neurological examination was normal except for deep tendon areflexia in the
lower limbs. Serologic evaluation and cerebral magnetic resonance imaging to
rule out post-infectious causes were normal. Electroneurography (ENG) showed
absent sensory action potentials. After 15 days, the patient experienced a
relapse of peripheral left facial palsy; ENG was unchanged, and somatosensory
evoked potentials showed posterior column involvement. Genetic analysis
demonstrated GAA repeat expansion on both alleles (860 and 900 GAA triplets) of
the frataxin gene, and the child was diagnosed with Friedreich ataxia.
Neurological findings at the last examination, performed at 7 years of age,
were unchanged except for mild bilateral pes cavus. Peripheral seventh cranial
nerve palsy could be an early and unusual sign of central nervous system
degeneration and axonal sensory neuropathy. Its occurrence in this patient
provides further evidence that Friedreich ataxia may have a varied clinical
presentation at onset. In accordance with other studies, we believe that the
size of both GAA expansions affect the age at onset of the disease, despite
atypical phenotype.
