INTRODUCTION

Spinocerebellar ataxia 7 (SCA7) is a slowly progressive autosomal dominant neurodegenerative disorder characterized clinically by cerebellar ataxia associated with cone-rod and retinal dystrophy. In the Philippines, only a few case reports are documented regarding spinocerebellar ataxias.

CLINICAL PRESENTATION

D.I. is an 1 8-year old female who presented with a 4-year history of progressive blurring of vision and ataxia. Pertinent findings in the neurologic examination include impaired visual acuity, optic disc pallor with bull's eye maculopathy, hyperreflexia, and ataxia.

DIAGNOSTIC WORK-UP

Cranial CT scan revealed mild atrophy of the midbrain and pons, and moderate cerebellar atrophy. Follow-up cranial MRI showed multiple non-enhancing punctuate foci of increased T2 signal involving the subcortical and periventricular white matter bilaterally seen in demyelinating disease, vasculitis as well as chronic migraine headaches, with no associated mass effect. Mild to moderate atrophy of the cerebellar hemispheres, pons and middle cerebellar peduncles bilaterally were seen. CSF analysis, CSF IgG and BAER results were normal. Flouroscein angiography confirmed the presence of Bull's eye maculopathy. Goldmann perimetry revealed bilateral central scotoma. Visual evoked potential was abnormal s uggestive of a pre-chiasmatic l esion. Electroretinogram findings were consistent with tapetoretinal degeneration.

TREATMENT AND FOLLOW UP

Treatment modalities for the spinocerebellar ataxias are supportive. Genetic counseling is recommended. Plans for molecular genetic testing for the patient and her family are currently underway.

Human ; Female ; Adolescent: 13-18 Yrs Old ; Olivopontocerebellar Atrophies ; Spinocerebellar Ataxias ; Spinocerebellar Ataxia Type 7