Friedreich's ataxia presenting with pure sensory ataxia: a long-term follow-up study of two patients.
We describe two patients with Friedreich's ataxia whose presenting symptomatology was for years progressive tabetic ataxia. Based upon the initial clinical, electrophysiological and nerve biopsy data, a diagnosis of idiopathic sensory neuropathy was established. Subsequent examination of the kin showed that three sisters of case 1 had Friedreich's ataxia. Upon serial clinical and electrocardiographic study, both patients eventually developed a florid Friedreich's ataxia, including cardiomyopathy. Our findings indicate that at onset Friedreich's ataxia may be indistinguishable from sensory neuropathy and also that serial examination and investigation of kinship are essential steps for accurate diagnosis.
Berciano
J
J
Service of Neurology, Cantabria University Hospital, Marqués de Valdecilla, Faculty of Medicine, Santander, Spain.
Combarros
O
O
Calleja
J
J
Polo
J M
JM
Pascual
J
J
Leno
C
C
D000328:Adult; D001259:Ataxia / Q000150:complications / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D005621:Friedreich Ataxia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree