Hidden scurvy — can vitamin C deficiency masquerade as other diseases?

Aim of the study: To document the clinical presentation of scurvy in children with autism spectrum disorder (ASD) and summarize the contemporary approaches to assessment and management in this population. Scurvy is a disease caused by vitamin C deficiency most often detected in populations at high risk for nutrition insufficiency (e.g., extreme poverty).

Results: The systematic search identified 20 case reports involving 24 children (mean age = 9 ± 3.5; 22 boys/2 girls). The eventual diagnosis of scurvy followed a wide range of negative diagnostic testing; treatment with ascorbic acid and/or a multivitamin resulted in rapid improvement. Symptoms of scurvy mimic other pediatric conditions (e.g., cancer). The range of diagnostic testing increased costs and healthcare risks (radiation, sedation) and delayed the diagnosis of scurvy. In children with ASD and severe food selectivity, a nutrition evaluation and laboratory testing are warranted before a more elaborate testing.

Aim of the study: Scurvy, a rare disease resulting from vitamin C deficiency, can occur in individuals with restrictive eating disorders like anorexia nervosa (AN), leading to severe health complications. This review explores the complex relationship between scurvy and AN, highlighting the overlapping symptoms and challenges in diagnosis and treatment.

Results: Treatment with vitamin C supplementation typically results in rapid symptom improvement. However, the malnutrition inherent in AN complicates the clinical picture, making timely diagnosis and intervention crucial. This review underscores the importance of a comprehensive, multidisciplinary approach to managing these conditions, emphasizing the need for early recognition and treatment to prevent severe complications. Future research should include a more diverse patient population to enhance understanding of the interplay between AN and scurvy, aiming to improve patient outcomes through tailored treatment strategies.

Aim of the study: Vitamin C deficiency may be more common than is generally assumed, and the association between vitamin C deficiency and adverse psychiatric effects has been known for centuries. This paper aims to systematically review the evidence base for the neuropsychiatric effects of vitamin C deficiency.

Results: Nine studies of vitamin C deficiency, including subjects both with and without the associated physical manifestations of scurvy, were included in this review. Vitamin C deficiency, including scurvy, has been linked to depression and cognitive impairment. No effect on affective or non-affective psychosis was identified. Disparate measurement techniques for vitamin C, and differing definitions of vitamin C deficiency were apparent, complicating comparisons between studies. However, there is evidence suggesting that vitamin C deficiency is related to adverse mood and cognitive effects. The vitamin C blood levels associated with depression and cognitive impairment are higher than those implicated in clinical manifestations of scurvy. While laboratory testing for ascorbic acid can be practically difficult, these findings nonetheless suggest that mental health clinicians should be alerted to the possibility of vitamin C deficiency in patients with depression or cognitive impairment.

Aim of the study: In the early literature, unintentional vitamin C deficiency in humans was associated with heart failure. Experimental vitamin C deficiency in guinea pigs caused enlargement of the heart. The purpose of this study was to collect and analyze case reports on vitamin C and pulmonary hypertension.

Results: We identified 32 case reports, 21 of which were published in the last 5 years. Dyspnea was reported in 69%, edema in 53% and fatigue in 28% of the patients. Vitamin C plasma levels, measured in 27 cases, were undetectable in 24 and very low in 3 cases. Diet was poor in 30 cases and 17 cases had neuropsychiatric disorders. Right ventricular enlargement was reported in 24 cases. During periods of vitamin C deficiency, the median mPAP was 48 mmHg (range 29-77 mmHg; N = 28). After the start of vitamin C administration, the median mPAP was 20 mmHg (range 12-33 mmHg; N = 18). For the latter 18 cases, mPAP was 2.4-fold (median) higher during vitamin C deficiency. Pulmonary vascular resistance (PVR) during vitamin C deficiency was reported for 9 cases, ranging from 4.1 to 41 Wood units. PVR was 9-fold (median; N = 5) higher during vitamin C deficiency than during vitamin C administration. In 8 cases, there was direct evidence that the cases were pulmonary artery hypertension (PAH).

Aim of the study: Scurvy is taught in history class and most doctors consider it a disease of the past. However, several studies show that vitamin C deficiency is highly prevalent among alcoholics, but also in elderly, people with low socioeconomic status, mental disorders or a restricted diet (7.1 - 25%).

Results: However, several studies show that vitamin C deficiency is highly prevalent among alcoholics, but also in elderly, people with low socioeconomic status, mental disorders or a restricted diet (7.1 - 25%). Besides the classical signs of scurvy, individuals exhibit a wide variety of symptoms. We present three recent cases of patients with vitamin C deficiency, with symptoms of bleeding, lethargy and edema, in whom supplementation greatly improved symptoms. As our cases illustrate having a high suspicion of scurvy and starting ascorbic acid might be a low cost and very effective intervention.

Aim of the study: Scurvy is an increasingly recognized but frequently overlooked nutritional deficiency in developed countries. We report a 55-year-old man with obesity and type 2 diabetes mellitus who presented with progressive petechiae and ecchymoses concerning for cutaneous vasculitis.

Results: Symptoms were initially attributed to aspirin use without improvement following dose reduction. Subsequent nutritional assessment revealed an undetectable plasma vitamin C level (<0.1 mg/dL) in the setting of chronically poor dietary quality with minimal fruit and vegetable intake. The patient was treated with vitamin C supplementation and nutrition counseling, with subsequent clinical improvement and normalization of vitamin C levels. This case highlights how micronutrient deficiencies may occur despite adequate food access and emphasizes the importance of dietary assessment in patients with unexplained bleeding manifestations to avoid diagnostic delay and unnecessary testing.

Aim of the study: Although rare in high-income countries, scurvy remains an important consideration in children with longstanding and highly restrictive eating habits, particularly those with autism spectrum disorder (ASD). Children with scurvy often undergo evaluation for infection, inflammatory bone disease, or malignancy before the diagnosis becomes apparent.

Results: Further assessment revealed a markedly restricted diet, characteristic skin findings, and a serum vitamin C level < 0.1 mg/dL, confirming the diagnosis of scurvy. Additional nutritional deficiencies of vitamins A, D, and E were identified. Following initiation of nutritional rehabilitation including vitamin C therapy, the patient experienced rapid improvement, with resolution of pain and restoration of weight-bearing ability. This case illustrates that pediatric scurvy can closely mimic CRMO clinically and radiographically, highlighting an important diagnostic pitfall and emphasizing the importance of careful dietary assessment to avoid unnecessary invasive diagnostic procedures.

Aim of the study: Scurvy, caused by severe vitamin C deficiency, is increasingly being reported in modern developed countries, particularly among children with restrictive diets. The non-specific presentation often leads to extensive investigations and diagnostic delays.

Results: Complete clinical and biochemical resolution occurred within three months. This case highlights the critical importance of obtaining a detailed dietary history in children presenting with unexplained musculoskeletal symptoms, hemorrhagic manifestations, or failure to thrive. Scurvy remains a relevant diagnosis in modern pediatric practice, particularly among children with neurodevelopmental conditions and food selectivity. Early recognition can prevent unnecessary invasive procedures and expensive diagnostic workups.

Aim of the study: Scurvy (vitamin C deficiency) can present with a wide range of musculoskeletal manifestations that mimic rheumatologic disease. A 53-year-old man was admitted with progressive muscle weakness and dizziness and was noted to have a non-blanching rash and joint swelling.

Results: Although the C-reactive protein level was elevated, an extensive rheumatologic serologic workup was unrevealing. Arthrocentesis of the knee demonstrated hemarthrosis. Further dietary history revealed severe nutritional deficiency, with intake consisting predominantly of fast food, and the serum vitamin C level was undetectable. Treatment with vitamin C supplementation led to marked clinical improvement.

Aim of the study: Although scurvy is rare in developed countries, cases in children with selective diets due to neurodevelopmental disorders have been increasingly reported in Japan. In this nationwide multicenter observational study, we aimed to clarify the clinical characteristics and diagnostic challenges faced by children with scurvy in Japan.

Results: Forty-seven children with scurvy, from 35 hospitals were included in the final analysis. The median age was 3.6 years, 70% were male, and only 36% had a body mass index standard deviation score below -2.0. A selective diet was observed in 96% of patients; 72% had autism spectrum disorder (ASD), and 13% had no underlying disease. The most common presenting symptom was gait disturbance (88%), whereas weight loss was observed in only 21% of patients. Additionally, 30% were misdiagnosed, and 38% underwent potentially harmful examinations. Pretreatment serum ascorbic acid levels were below the detection limit in 77%. In Japan, scurvy in children was predominantly associated with a selective diet, particularly among those with ASD. Careful dietary assessment is important to avoid diagnostic delay and irreversible complications.