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What's Your Diagnosis?

What Caused a Geriatric Gait in a Homebound Adolescent?

  • Answer: E. Vitamin C deficiency

    A preliminary diagnosis of nutritional deficiency of vitamin C (scurvy) was made through the patient’s dietary history and characteristic dermatological and imaging findings (Figures 3-5). A conclusive diagnosis was made after a serum vitamin C level was obtained after imaging and was noted to be low, at less than 0.09 mg/dL (reference range, 0.4-2.0 mg/dL) with laboratory evidence of iron deficiency anemia.

    Discussion. Scurvy, as a nutritional deficiency, is a rare phenomenon in developed countries.1 According to the National Health and Nutrition Examination Survey (NHANES) III, between 1988 and 1994, approximately 13% to 23% of the population of the United States was deficient in vitamin C.2 This statistic improved in the most recent NHANES survey between 2003 and 2004, where the prevalence of vitamin C deficiency was noted to be 8.4%, comprising 10% of men and 6.9% of women.3,4 However, vitamin C, or ascorbic acid, deficiency is noted to be common among elderly patients and those lacking access to fresh fruits and vegetables.5 

    Although scurvy is rare, the most classical presentation of scurvy is gingival hyperplasia and bleeding from the gums.6 Pathognomonic dermatological findings include perifollicular hemorrhages, follicular hyperkeratosis, corkscrew hair, and xerosis.7,8 In our case, the patient presented with progressive leg swelling and pain for over a month without the classical findings or history of bleeding gums while brushing his teeth or gingival hyperplasia on physical examination. He did have follicular hyperkeratosis, however.

    In the pediatric population, bone disease is often noted as a radiographic finding. Osteological MRI findings of scurvy as described in the literature reveal areas of subperiosteal hemorrhage within the bones, periosteal changes, low marrow signal intensity on T1-weighted images, and corresponding, high marrow signal intensity on T2-weighted images.9-12 With the exception of subperiosteal hemorrhage, our patient had all of these findings.

    Vitamin C is a water-soluble vitamin that is absorbed from the gastrointestinal tract. The recommended dietary allowance for vitamin C in the pediatric population ranges from 15 mg to 90 mg daily depending on the age group of children from 0 to 18 years of age.13,14 About 70% to 90% of consumed vitamin C is absorbed when the intake is moderate and in the range of 30 to 180 mg daily.14 Vitamin C is important for the synthesis of collagen, which is a crucial component of connective tissue development.15,16 It also plays an integral role in wound healing. Deficiency of dietary vitamin C decreases the absorption of nonheme iron and folic acid, resulting in iron deficiency anemia.10 In our case, the patient’s dietary history and iron deficiency anemia indicated vitamin C deficiency. The diagnosis of scurvy was made clinically and then confirmed by measuring his level of serum vitamin C. 

    Treatment of scurvy is directed at initiation of daily vitamin C supplementation in addition to vitamin C-rich foods, including citrus fruits (ie, lemons, limes, oranges) and vegetables.17 Treatment doses of vitamin C in infants and children range from 100 to 300 mg daily for a duration of 4 weeks.18,19 Considering that iron deficiency anemia secondary to scurvy and folate deficiency is refractory to iron treatment,20,21 our patient was started on iron, folate, and vitamin C supplements. In multiple cases, MRI findings of scurvy have been noted to resolve completely on repeat imaging studies obtained several weeks later. 8,9,22-24 

    Patient outcome. Our patient presented with the musculoskeletal findings of vitamin C deficiency as opposed to the classical presentation of bleeding gums and delayed wound healing.6 A detailed discussion regarding nutrition and the importance of a balanced diet was conducted with the patient and his family. As our patient was hemodynamically stable, he was discharged home from the ED with prescriptions for multivitamins, cholecalciferol, and iron and vitamin C supplements. We recommended outpatient follow-up with a pediatrician within 1 week of ED discharge for repeat serum vitamin C level testing, as well as ongoing nutritional counseling and monitoring.

    At the follow-up visit with his pediatrician, an improvement of his right lower leg swelling was noted, along with resolution of his generalized weakness and rash. Repeat laboratory testing was notable for a normal vitamin C level of 1.46 mg/dL after 12 days of treatment. Iron studies showed improvement, with increases in his hemoglobin level to 11.8 g/dL, total iron level to 48 ug/dL, and iron saturation index to 13%. The patient has adhered to the treatment recommendations and has made extensive dietary changes.

    References

    1. Hampl JS, Johnston CS, Mills RA. Scourge of black-leg (scurvy) on the Mormon trail. Nutrition. 2001;17(5):416-418. https://doi.org/10.1016/s0899-9007(01)00512-3

    2. Hampl JS, Taylor CA, Johnston CS. Vitamin C deficiency and depletion in the United States: the Third National Health and Nutrition Examination Survey, 1988 to 1994. Am J Public Health. 2004;94(5):870-875. https://doi.org/10.2105/ajph.94.5.870

    3. Schleicher RL, Carroll MD, Ford ES, Lacher DA. Serum vitamin C and the prevalence of vitamin C deficiency in the United States: 2003-2004 National Health and Nutrition Examination Survey (NHANES). Am J Clin Nutr. 2009;90(5):1252-1263. https://doi.org/10.3945/ajcn.2008.27016

    4. Rowe S, Carr AC. Global vitamin C status and prevalence of deficiency: a cause for concern? Nutrients. 2020;12(7):2008. https://doi.org/10.3390/nu12072008

    5. Velandia B, Centor RM, McConnell V, Shah M. Scurvy is still present in developed countries. J Gen Intern Med. 2008;23(8):1281-1284. https://doi.org/10.1007/s11606-008-0577-1

    6. Kittisakmontri K, Swangtrakul N, Padungmaneesub W, Charoenkwan P. Gingival bleeding and bloody dialysate: a case report of scurvy in a child with end-stage renal disease receiving peritoneal dialysis. J Ren Nutr. 2016;26(6):407-411. https://doi.org/10.1053/j.jrn.2016.03.003

    7. Weinstein M, Babyn P, Zlotkin S. An orange a day keeps the doctor away: scurvy in the year 2000. Pediatrics. 2001;108(3):E55. https://doi.org/10.1542/peds.108.3.e55

    8. Lessing JN, LaMotte ED, Moshiri AS, Mark NM. Perifollicular haemorrhage with corkscrew hair due to scurvy. Postgrad Med J. 2015;91(1082):719-720. https://doi.org/10.1136/postgradmedj-2015-133661

    9. Karthiga S, Dubey S, Garber S, Watts R. Scurvy: MRI appearances. Rheumatology (Oxford). 2008;47(7):1109. https://doi.org/10.1093/rheumatology/ken160

    10. Hirschmann JV, Raugi GJ. Adult scurvy. J Am Acad Dermatol. 1999;41(6):895-910. https://doi.org/10.1016/s0190-9622(99)70244-6

    11. Golriz F, Donnelly LF, Devaraj S, Krishnamurthy R. Modern American scurvy - experience with vitamin C deficiency at a large children's hospital. Pediatr Radiol. 2017;47(2):214-220. https://doi.org/10.1007/s00247-016-3726-4

    12. Gulko E, Collins LK, Murphy RC, Thornhill BA, Taragin BH. MRI findings in pediatric patients with scurvy. Skeletal Radiol. 2015;44(2):291-297. https://doi.org/10.1007/s00256-014-1962-y

    13. Institute of Medicine Panel on Dietary Antioxidants and Related Compounds. Dietary Reference Intakes for Vitamin C, Vitamin E, Selenium, and Carotenoids. National Academies Press; 2000.

    14. National Institutes of Health. Vitamin C fact sheet for health professionals. Updated March 26, 2021. Accessed May 12, 2021. https://ods.od.nih.gov/factsheets/VitaminC-HealthProfessional

    15. Carr AC, Frei B. Toward a new recommended dietary allowance for vitamin C based on antioxidant and health effects in humans. Am J Clin Nutr. 1999;69(6):1086–1107. https://doi.org/10.1093/ajcn/69.6.1086

    16. Gershoff SN. Vitamin C (ascorbic acid): new roles, new requirements? Nutr Rev. 1993;51(11):313-326. https://doi.org/10.1111/j.1753-4887.1993.tb03757.x

    17. Léger D. Scurvy: reemergence of nutritional deficiencies. Can Fam Physician. 2008;54(10):1403-1406. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567249/

    18. Agarwal A, Shaharyar A, Kumar A, Bhat MS, Mishra M. Scurvy in pediatric age group - a disease often forgotten? J Clin Orthop Trauma. 2015;6(2):101-107. https://doi.org/10.1016/j.jcot.2014.12.003

    19. Baradhi KM, Vallabhaneni S, Koya S. Scurvy in 2017 in the USA. Proc (Bayl Univ Med Cent). 2018;31(2):227-228. https://doi.org/10.1080/08998280.2018.1435115

    20. Clark NG, Sheard NF, Kelleher JF. Treatment of iron-deficiency anemia complicated by scurvy and folic acid deficiency. Nutr Rev. 1992;50(5):134-137. https://doi.org/10.1111/j.1753-4887.1992.tb01304.x

    21. Conway M, Marcon P, Meinert P, et al. A toddler with treatment-resistant iron deficiency anemia. Pediatrics. 2018;142(1):e20172971. https://doi.org/10.1542/peds.2017-2971

    22. Khan N, Furlong-Dillard JM, Buchman RF. Scurvy in an autistic child: early disease on MRI and bone scintigraphy can mimic an infiltrative process. BJR Case Rep. 2015;1(3):20150148. https://doi.org/10.1259/bjrcr.20150148

    23. Choi SW, Park SW, Kwon YS, et al. MR imaging in a child with scurvy: a case report. Korean J Radiol. 2007;8(5):443-447. https://doi.org/10.3348/kjr.2007.8.5.443

    24. Gallizzi R, Valenzise M, Passanisi S, Pajno GB, De Luca F, Zirilli G. Scurvy may occur even in children with no underlying risk factors: a case report. J Med Case Rep. 2020;14:18. https://doi.org/10.1186/s13256-020-2341-z