Abstract Details

Title Scurvy as a forgotten cause of pseudo-ataxia child; A Case Report with muscle pathology and musculoskeletal MRI findings.

Topic Child Neurology and Developmental Neurology

Presentation(s) P16 - Poster Session 16 (8:00 AM-9:00 AM)

Poster/Presentation
Number 6-003

Objective NA

Background Ataxia is a common neurology consultation question in young children. To diagnose, the detailed history taking, and physical examination are important for further decision making. Though vitamin C deficiency is very rare nowadays in the US, it is not uncommon in selective eating populations such as children with autistic spectrum disorder or neurodevelopmental disability.

Design/Methods NA

Results Case presentation: A 3-year-old African American girl with autistic spectrum disorder presented with mild limping on left leg after running, then walking wobbly and refusing to walk more than a few steps for 2 weeks. No pain or discomforted was noted. Initial neurological examination was concerned for ataxic gait with no significant weakness or limit range of motion. Initial investigations showed normal hip X-ray, brain MRI, cerebrospinal fluid study, and normal urine catecholamines, however ESR was elevated, and carnitine level was decreased with abnormal ratio of acylcarnitine and free carnitine. About 1 week later, she refused to stand and preferred to sit up with knee flexion. Physical examination revealed limit range of motion of bilateral knee extension and hip flexion. X-ray of knee joints were normal. MRI of bilateral hips and lumbar spine showed T2 hyperintensity in bilateral lumbar paraspinous muscles and in pelvis musculature, suggestive of myositis. Muscle biopsy did not demonstrate inflammatory process, but only non-specific atrophic changes were observed. Vitamin C level was undetectable. Retrospectively, vitamin C deficiency can cause elevated ESR, abnormal carnitine profile, and abnormal musculoskeletal MRI. Patient was treated with vitamin C supplements with significant improvement of symptoms within a week.

Conclusions This case demonstrated unusual presentation of scurvy as pseudo-ataxia without other typical manifestations including petechiae, gingivitis, or hemorrhage in muscles or periosteum. It is important to have a high index of suspicion for nutritional deficiencies in children with selective eating behavior who presented with abnormal gait.

Authors/Disclosures
Pitchamol Vilaisaktipakorn, MD PRESENTER	Dr. Vilaisaktipakorn has nothing to disclose.
Montida Veeravigrom, MD (U of MI Health Systems)	Dr. Veeravigrom has nothing to disclose.

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