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Purpose <p>Scurvy, a disease caused by vitamin C deficiency, occurs in populations at high risk for nutritional deficiencies. Avoidant/Restrictive Food Intake Disorder (ARFID), a condition frequently associated with Autism Spectrum Disorder (ASD), represents a predisposing factor for this and other micronutrient deficiencies. The purpose of this article is to report a case series of patients with ASD who presented with gait disturbance as the first manifestation of scurvy, emphasizing the importance of early diagnostic suspicion.</p> Materials and Methods <p>We conducted a retrospective review of electronic medical records of patients with ASD and gait abnormalities evaluated at the pediatric neurology department of Hospital Italiano de Buenos Aires between 2013 and 2025. Inclusion criteria were ASD, restrictive eating patterns, and clinical features compatible with scurvy. Cases with conditions or medications that could alter vitamin C metabolism were excluded.</p> Results <p>Nine patients met inclusion criteria. All presented with subacute gait disturbance (limping, antalgic gait, or refusal to walk) associated with pain, cramps, or weakness. Five showed petechiae or purpura. None had a prior ARFID diagnosis despite marked dietary restriction, and all ultimately fulfilled diagnostic criteria during follow-up. Anthropometric parameters were within normal ranges in all cases. A targeted dietary history revealed severely restricted food intake. Based on clinical suspicion of scurvy, plasma vitamin C levels were measured and found to be significantly low. Treatment with ascorbic acid led to significant symptom improvement within the first week and full recovery of gait.</p> Conclusions <p>Scurvy should be considered in the differential diagnosis of children with ASD who present with restrictive eating behaviors and gait disturbances, even in the presence of normal anthropometric measurements or absence of a prior ARFID diagnosis. Early recognition and targeted laboratory testing enable timely treatment, preventing unnecessary investigations and allowing for rapid clinical recovery.</p>

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Gait Disturbance Secondary to Scurvy in Patients with ASD and Avoidant/Restrictive Food Intake Disorder (ARFID): Presentation of a Case Series

  • 期刊论文

  • 发表日期：

    2026年1月10日

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  • M. Belén Vietti,
  • Noelia Chamorro,
  • Clarisa Maxit,
  • Alejandra Gonzalez,
  • Antonella Mendoza,
  • Esteban Vaucheret Paz

摘要

Purpose

Scurvy, a disease caused by vitamin C deficiency, occurs in populations at high risk for nutritional deficiencies. Avoidant/Restrictive Food Intake Disorder (ARFID), a condition frequently associated with Autism Spectrum Disorder (ASD), represents a predisposing factor for this and other micronutrient deficiencies. The purpose of this article is to report a case series of patients with ASD who presented with gait disturbance as the first manifestation of scurvy, emphasizing the importance of early diagnostic suspicion.

Materials and Methods

We conducted a retrospective review of electronic medical records of patients with ASD and gait abnormalities evaluated at the pediatric neurology department of Hospital Italiano de Buenos Aires between 2013 and 2025. Inclusion criteria were ASD, restrictive eating patterns, and clinical features compatible with scurvy. Cases with conditions or medications that could alter vitamin C metabolism were excluded.

Results

Nine patients met inclusion criteria. All presented with subacute gait disturbance (limping, antalgic gait, or refusal to walk) associated with pain, cramps, or weakness. Five showed petechiae or purpura. None had a prior ARFID diagnosis despite marked dietary restriction, and all ultimately fulfilled diagnostic criteria during follow-up. Anthropometric parameters were within normal ranges in all cases. A targeted dietary history revealed severely restricted food intake. Based on clinical suspicion of scurvy, plasma vitamin C levels were measured and found to be significantly low. Treatment with ascorbic acid led to significant symptom improvement within the first week and full recovery of gait.

Conclusions

Scurvy should be considered in the differential diagnosis of children with ASD who present with restrictive eating behaviors and gait disturbances, even in the presence of normal anthropometric measurements or absence of a prior ARFID diagnosis. Early recognition and targeted laboratory testing enable timely treatment, preventing unnecessary investigations and allowing for rapid clinical recovery.