Scurvy, a condition caused by vitamin C deficiency, is characterized by a syndrome of multisystem disorder due to defective collagen production and antioxidative function. This condition is infrequent in this modern era; thus, it is often not within the list of differential diagnoses. The broad clinical picture is generally overlooked as other systemic illnesses, resulting in an extensive investigation that delays the diagnosis. Herein, we report a case of an 8-year-old boy with underlying autism spectrum disorder who presented with lower limb pain and other constitutional symptoms. Examination revealed multiple hyperpigmented scars over the upper and lower limbs and gingival hyperpigmentation. With history of picky eating habits and clinical symptoms supported by radiographic findings, scurvy was suspected and subsequently confirmed based on a low level of ascorbic acid. With vitamin C supplementation and proper nutritional support, the patient recovered well.

暂无摘要。

Scurvy is a nutritional disease caused by ascorbic acid (vitamin C) deficiency. Althought currently it is a rare disease, we should considerer it in the differential diagnosis of purpura and arthritis in patients with restrictive diets. We present the case of a 49-year-old man with a history of a nutritional disorder presented to our hospital with generalized purpura and hemarthros. Following the anamnesis and laboratory findings, rheumatological, infectious and hematological etiologies were excluded. Finally, the diagnosis of scurvy was made upon demostration poor levels of vitamin C and a spectacular response to nutritional supplements. We compare this case with 19 similar cases reported in the medical literature.

OBJECTIVE: This research aims to determine the aetiology of porosity and subperiosteal new bone formation on the inferior surface of the pars basilaris.
METHODS: A total of 199 non-adult individuals aged 36 weeks gestation to 3.5 years, from a total of 12 archaeological sites throughout the UK, including Iron Age (n=43), Roman (n=12), and post-medieval (n=145) sites, with a preserved pars basilaris.
METHODS: The pars basilaris was divided into six segments, with porosity (micro and macro) and subperiosteal new bone formation recorded on the inferior surface in scorbutic and non-scorbutic individuals. Scurvy was diagnosed using criteria from the palaeopathological literature that was developed using a biological approach.
RESULTS: There was no statistically significant difference in microporosity between scorbutic and non-scorbutic individuals in four out of the six segments analysed. There was a significant negative correlation between age and microporosity in non-scorbutic and scorbutic individuals. A significant difference in subperiosteal new bone formation was observed between scorbutic and non-scorbutic individuals.
CONCLUSIONS: Microporosity on the inferior pars basilaris should not be considered among the suite of lesions included in the macroscopic assessment of scurvy in non-adult skeletal remains (less than 3.5 years).
CONCLUSIONS: This study highlights the risk of over diagnosing scurvy in past populations.
CONCLUSIONS: It is difficult to distinguish between physiological (normal) and pathological (abnormal) bone changes in the skeleton of individuals less than one year of age.
UNASSIGNED: Future research should focus on the analysis of individuals over 3.5 years of age.

BACKGROUND: Vitamin C deficiency, or scurvy, is rare but poses risks for children with poor diets, limited resources, or malabsorption issues. It may also be common in children with restrictive or selective dietary habits in children with global developmental delay, autism spectrum disorder, and physical disabilities. Symptoms include fatigue, irritability, joint and muscle pain, joint swellings, edema, swollen gums, easy bruising, and delayed wound healing. Early recognition and prompt intervention are essential to prevent the progression of symptomatic vitamin C deficiency in children.
METHODS: We present a case of a 13-year-old boy with developmental delay secondary to Lennox Gastaut syndrome referred for suspected recurrent, severe, and atypical IgA vasculitis. He presented with irritability, loss of appetite, petechial and ecchymotic lower limb lesions, unilateral gum swelling, severe arthritis, peripheral oedema, severe weight loss, anaemia, and raised inflammatory markers. Multiple investigations were performed before the diagnosis of scurvy was made. A surgical finding of friable gingival tissue with multiple loose teeth, a skin biopsy with follicular hyperkeratosis and extravasated perifollicular red blood cells, and a typical X-ray finding led to the diagnosis of scurvy.
CONCLUSIONS: Scurvy should be given careful consideration as a differential diagnosis in patients presenting with musculoskeletal issues, mucocutaneous complaints, and constitutional symptoms such as malaise, asthenia, irritability, and loss of appetite. A focused and detailed dietary history looking for a lack of good sources of vitamin C can be an easy indicator of this differential. Imaging studies revealing the typical features can also help make the diagnosis. Pathology of the skin revealing pathognomonic features can add to the certainty of the diagnosis. In the absence of all else, the rapid response to treatment with an appropriate dose of vitamin C has a diagnostic and therapeutic role.

A 3-year-old had spontaneous gingival hemorrhage and bilateral limb weakness with inability to bear weight. He had no preceding oral trauma or recent infection, took no regular medications, and had no recent use of aspirin or nonsteroidal anti-inflammatory drugs; his diet was limited to primarily chicken nuggets and milk. What is the diagnosis and what would you do next?

UNASSIGNED: ESR: erythrocyte sedimentation rate; Hb: haemoglobin; HSP: Henoch-Schönlein purpura; WCC: white-cell count.

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OBJECTIVE: Water-soluble vitamins play an essential coenzyme role in the nervous system. Acquired vitamin deficiencies are easily treatable, however, without treatment, they can lead to irreversible complications. This study aimed to provide clinical, laboratory parameters and neuroimaging data on vitamin deficiencies in an attempt to facilitate early diagnosis and prompt supplementation.
METHODS: From July 1998 to July 2023, patients at Necker-Enfants-Malades Hospital presenting with acute neurological symptoms attributed to acquired vitamin deficiency were included. Clinical data were extracted from Dr Warehouse database. Neuroimaging, biochemical and electrophysiological data were reviewed.
RESULTS: Patients with vitamin B1 deficiency exhibited abnormal eye movements (n = 4/4), fluctuations in consciousness (n = 3/4), and ataxia (n = 3/4). Brain MRI showed alterations of fourth ventricle region (n = 4/4), periaqueductal region (n = 4/4), tectum (n = 3/4), and median thalami (n = 3/4). Patients with vitamin B2 deficiency presented with early onset hypotonia (n = 3/4), hyperlactatemia (n = 4/4), and hyperammonemia (n = 4/4). Plasma acylcarnitines revealed a multiple acyl-coA dehydrogenase deficiency-like profile (n = 4/4). In vitamin B12 deficiency, young children presented with developmental delay (n = 7/7) and older children with proprioceptive ataxia (n = 3/3). Brain MRI revealed atrophy (n = 7/7) and spinal MRI hyperintensity in posterior cervical columns (n = 3/3). Metabolic findings showed elevated methylmalonic acid (n = 6/7) and hyperhomocysteinemia (n = 6/7). Patients with vitamin C deficiency exhibited gait disturbances and muscle weakness (n = 2/2).
CONCLUSIONS: Acquired vitamin deficiencies may display reversible clinical symptoms mimicking inherited metabolic disorders. Some situations raise suspicion for diagnosis: concordant clinical presentation, suggestive neuroimaging findings, and/or biochemical evidence. Any acute neurological condition should be treated without waiting for definitive biochemical confirmation.

OBJECTIVE: This study aims to determine and discuss the prevalence of non-adult scurvy cases from the early medieval Jaun/Podjuna Valley in southern Austria.
METHODS: 86 non-adult individuals were assessed from three early medieval sites.
METHODS: Morphological characteristics associated with suggestive and probable scurvy were observed macroscopically and under 20-40x magnification.
RESULTS: A significant relationship between the prevalence of scurvy and age group was observed. Perinates (46%, 6/13) and children (27.5%, 8/28) showed a high prevalence of skeletal features indicating a diagnosis of scurvy, while no cases of scurvy were observed in adolescents and adults.
CONCLUSIONS: In this Alpine region, scurvy occurred frequently in infants and children. Seasonal fluctuations of diet are discussed as factors triggering scurvy.
CONCLUSIONS: This study sheds new light on the prevalence of scurvy in the Alpine region and how the region developed after the fall of the Roman Noricum. It also models ways in which multiple lines of evidence can contribute to the diagnostic process.
CONCLUSIONS: Poor preservation posed a challenge to identifying probable cases of scurvy. Likewise, non-adult remains are difficult to diagnose due to their developing nature and it is not always possible to distinguish between normal bone growth and pathological growth.
UNASSIGNED: Future applications of biomolecular studies will help illustrate changes in diet that may have contributed to vitamin deficiencies.