title: Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable.
abstract: Spinocerebellar ataxias are a group of autosomal dominant cerebellar degenerative disorders, which are characterized by clinical and genetic variability. Spinocerebellar ataxia type 7 (SCA7) is less variable in clinical presentation than other SCAs. We present a pediatric patient with 13 and 70 trinucleotide CAG repeats within SCA7 gene and no family history, whose presentation mimicked Kearns-Sayre syndrome (KSS). We review the differential diagnosis of cerebellar ataxia with vision loss secondary to retinal pigmentary dystrophy. This paper supports concept of a desirable clinical diagnosis to avoid multiple genetic or invasive testing in children with neurodegenerative disorders.
authors.affiliation: Section of Child Neurology, Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pennsylvania 19140, USA. suryangupta@rediffmail.com
authors.forename: Surya N
authors.initials: SN
authors.lastname: Gupta
authors.forename: Harold G
authors.initials: HG
authors.lastname: Marks
mesh_terms: D000293:Adolescent; D000067719:Ataxin-7; D001766:Blindness / Q000235:genetics; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D003680:Deglutition Disorders / Q000235:genetics; D003937:Diagnosis, Differential; D003951:Diagnostic Errors / Q000517:prevention & control; D018450:Disease Progression; D004596:Electroretinography; D017809:Fatal Outcome; D020233:Gait Disorders, Neurologic / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011149:Pons / Q000473:pathology / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: C000593829:ATXN7 protein, human; D000067719:Ataxin-7; D005819:Genetic Markers; D009419:Nerve Tissue Proteins