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Case Studies | Medicine | India | Volume 13 Issue 6, June 2024 | Rating: 5.2 / 10
A Rare Case of Autosomal Recessive Spastic Ataxia of Charlevoix - Saguenay
Dr. Dhruvkumar Vasantbhai Patel | Dr. Sagar Nileshbhai Parmar | Dhruvi Kalpesh Joshi | Dr Pratik D. Modi
Abstract: Background: Autosomal recessive spastic ataxia of Charlevoix - Saguenay (ARSACS or SACS) is an early onset neurodegenerative disease with high prevalence (carrier frequency 1/22) in the Charlevoix - Saguenay - Lac - Saint - Jean (CSLSJ) region of Quebec. It is caused by mutations in SACS gene on chromosome 13 which encodes the protein Sacsin. It is characterized by triad of spasticity, cerebellar symptoms and sensory and motor polyneuropathy. Clinical Case: A 29 years old unmarried female born out of non - consanguineous marriage presented to the hospital with a history of difficulty in maintaining balance while walking since 17 years, dysarthria and stiffness in lower limb. She had no significant drug history or other medical illness. There was history of intentional tremors in father since 3 years. Her mother died at the age of 40 due to some neurological issue with unknown cause. On neurological examination, there was all four limbs spasticity, deep tendon reflexes were exaggerated, with bilateral extensor plantar response. Examination also revealed dysmetria, dysdiadochokinesia and abnormal knee - heel - shin test on left side. The patient was swaying from side to side with open eyes and her feet positioned opposite each other. Romberg?s test was negative. There were no significant findings on systemic examination. Fundus and retinal examination were normal. Her routine blood works were within normal limits. On MRI brain imaging, there were areas of edema involving the bulky pons and striped Hypointensities with mild cerebral and moderate cerebellar atrophic changes. Nerve conduction study indicated axonal demyelinating polyneuropathy, involving sensory nerves more than motor nerves, and affecting lower limbs more than upper limbs. Conclusion: The diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix - Saguenay was established based on clinical manifestations, radiological imaging and nerve conduction studies. Index of suspicion should be higher for early diagnosis in young patients with gait ataxia and spasticity with cerebellar atrophy in the brain imaging. treatment in this patient was focused on symptomatic relief and supportive care including physical and occupational therapy.
Keywords: ARSACS (Autosomal Recessive Spastic Ataxia of Charlevoix - Saguenay), neurodegenerative, dysmetria, dysdiadockokinesia, striped hypointesities, cerebellar atrophy, axonal demyelinating polyneuropathy
Edition: Volume 13 Issue 6, June 2024,
Pages: 178 - 180