Abstract Details

Title Scurvy presenting with difficulties to walk and weakness in pediatric patients; 2 case reports.

Topic Child Neurology and Developmental Neurology

Presentation(s) P11 - Poster Session 11 (11:45 AM-12:45 PM)

Poster/Presentation
Number 4-009

Objective Vitamin deficiency should be considered during differential diagnosis of neurological symptoms in patients presenting with subacute progressive gait instability and weakness.

Background Despite the perception that scurvy is a rare disorder (1,2), clinicians should have a high index of suspicion in patients at risk for nutritional deficiencies including picky eater, behavioral or sensory issues.

Design/Methods We report 2 patients of ascorbic acid deficiency who presented with subacute progressive gait instability and weakness.

Results

Case 1 is a 12-year-old male with autism spectrum disorder who presented with 3 weeks of progressive bilateral lower extremity weakness resulting in wheelchair dependence. Cranial nerves, deep tendon reflexes, and sensory exam were normal. Motor exam notable for proximal > distal lower extremity weakness. Skin and mucosal examination revealed gingival bleeding and corkscrew hair. Detailed dietary history revealed a severely restricted diet. He was found also to have low vitamin D. Patient treated empirically with vitamin C supplementation resulted in marked improvement within 24 hours, so no additional work up was recommended. Ascorbic acid level was extremely low confirming the diagnosis.

Case 2 is a 4-year-old with history of mild hypotonia who presented with subacute progressive lower extremities weakness exacerbated by physical activity. Cranial nerves, deep tendon reflexes, and sensory exam were normal. Motor exam notable for proximal > distal lower extremity weakness, waddling gait, and positive Gowers maneuver. Dietary history revealed restricted diet for the last 3 months. CK normal. Supplementation with Vitamin C resulted in minimal symptoms improvement so additional neuroimaging was recommended such as magnetic resonance imaging (MRI) of brain, spine and thigh/leg as well as lumbar puncture (LP) all unremarkable. Ascorbic acid level was low confirming the diagnosis.

Conclusions Dietary restriction and subacute progressive weakness should raise concern for nutritional myopathies. Refusal to bear weight is a frequent presentation of ascorbic acid deficiency (3).

Authors/Disclosures
Anastasia Railean, MD PRESENTER	Dr. Railean has nothing to disclose.
Jaclyn Martindale, DO, FAAN (Wake Forest Medical Center)	Dr. Martindale has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Movement Disorder Society. The institution of Dr. Martindale has received research support from Tourette Association of America. The institution of Dr. Martindale has received research support from American Board of Neurology and Psychiatry.

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