Reversible severe pulmonary hypertension related to scurvy in children.

BACKGROUND: Severe pulmonary hypertension (PH) in childhood is rare and can manifest as a life-threatening episode. We present 2 children with restrictive dietary habits with severe pulmonary hypertension secondary to scurvy and iron deficiency anemia with treatment and outcome. CASE PRESENTATION: The first case is a 2-year-old boy who presented with vomiting, diarrhea, and fever. After rehydration, he had recurrent episodes of hypotension with intermittent abdominal pain. Fluid resuscitation and inotropic medication were given. Then he suddenly collapsed. After 4-min cardiopulmonary resuscitation, his hemodynamic was stabilized. Most of the medical workup was unremarkable except for PH from the echocardiogram with estimated systolic pulmonary artery pressure (PAP) at 67 mmHg. Transient PH was diagnosed, and milrinone was prescribed. Since he had restrictive dietary habits and sclerotic rim at epiphysis in chest films, his vitamin C level was tested and reported low-level result. The second case is a 6-year-old boy with acute dyspnea, a month of low-grade fever, mild cyanosis, and a swollen left knee. Echocardiogram indicated moderate TR with estimated systolic PAP at 56 mmHg (systolic blood pressure 90 mmHg). Milrinone was given. Right cardiac catheterization showed PAP 66/38 (mean 50) mmHg and PVRi 5.7 WU.m2. Other medical conditions causing PH were excluded. With a history of improper dietary intake and clinical suspicion of scurvy, vitamin C was tested and reported undetectable level. Administration of vitamin C in both cases rapidly reversed pulmonary hypertension. CONCLUSION: Pediatric PH related to vitamin C deficiency can manifest with a wide range of symptoms, varying from mild and nonspecific to severe life-threatening episodes characterized by pulmonary hypertensive crises. PH associated with scurvy is entirely reversible with appropriate investigation, diagnosis, and treatment. Our report highlights the importance of considering nutritional deficiencies as potential confounding factors in pediatric PH, emphasizing the need for comprehensive evaluation and management of these patients.

Pediatric scurvy case report: a novel presentation with deep vein thrombosis secondary to large bilateral spontaneous iliac subperiosteal hematomas.

BACKGROUND: Scurvy is an uncommon disease in developed countries caused by deficiency of vitamin C. We present a case of scurvy in a 14-year-old male with autism with both novel presentation and imaging findings. This case had the novel presentation of lower limb deep vein thrombosis (DVT) secondary to compression of the external iliac vein from large bilateral iliac wing subperiosteal hematomas. Subperiosteal hematoma is a well-recognised feature of scurvy but large and bilateral pelvic subperiosteal hematoma causing DVT has not previously been described. CASE PRESENTATION: A 14 year old Caucasian male with background of autism and severe dietary restriction presented with lower limb swelling and immobility. He was diagnosed with lower limb DVT. Further investigation revealed an iron deficiency anaemia, and he was found on MRI to have large bilateral subperiosteal iliac hematomata causing compression of the iliac vessels. He improved following treatment with vitamin C replacement and follow-up imaging demonstrated resolution of the DVT and hematoma. CONCLUSION: DVT is rare in children and when diagnosed should prompt investigation as to the underlying cause. This case demonstrates an unusual cause of DVT and as an unusual presentation of paediatric scurvy.

An apple a day keeps the doctor away: pediatric scurvy case report and mini review.

Scurvy is a rare nutritional disorder caused by deficiency of ascorbic acid (vitamin C). It is often under-diagnosed in clinical settings, especially in North America where population statistics are unavailable. However, scurvy is more common than previously thought and appears to be re-emerging in children with developmental delays. Here, we review the pertinent literature and present a case of a previously healthy, 5-year-old, non-verbal boy who presented with multiple, acute, and subacute spontaneous epidural hemorrhages managed by neurosurgical intervention. He remained in hospital for 17 days and was seen in follow-up 3 weeks post-operatively having returned to his neurological baseline. Our case suggests the importance of considering scurvy in patients who have developmental delays and poor nutritional status.

Scurvy complicated with Capnocytophaga sputigena sepsis as a possible cause of death of king Saint-Louis of France (1270 AD).

The cause of death of Saint-Louis is not known, but recent findings indicated that he presented scurvy and inflammatory jaw disease, which has been associated with infection by oral commensals. Here, we have the exceptional opportunity to analyze the relics of the viscera of King Saint-Louis. A 4.3 g sample from the viscera relics of King Saint-Louis conserved in Versailles' cathedral was subjected to radiocarbon dating, electronic and optic microscopy, and elementary, palynological, molecular, proteomics and microbiological analyses including specific PCR and v3v4 16 S rRNA gene amplification prior to large-scale sequencing using an Illumina MiSeq instrument. The measured radiocarbon age was Cal 1290 CE-1400, which was compatible with that of the viscera of St Louis viscera, considering the addition of lime, incense and vegetables within the human organs. Elemental and palynological analyses confirmed a medieval embalming process. Proteomics analysis identified mainly human muscle and blood proteins. Specific PCR for plague, amoebiasis, shigellosis and typhoid fever was negative. C. sputigena was identified as the main pathogenic species representing 10.8 % of all microbial sequences. In contrast, C. sputigena was found in only 0.001 % of samples sequenced in our center, and the 23 positive human samples showed a dramatically lower abundance (0.02-2.6 %). In the literature, human infections with C. sputigena included odontitis, dental abscess, sinusitis, thoracic infections and bacteremia, particularly in immunocompromised patients with oral and dental diseases consistent with recent analysis of King Saint-Louis' jaw. C. sputigena, a commensal of the mouth that is potentially pathogenic and responsible for fatal bacteremia, may have been the cause of the king's death.

Scurvy in a patient with thalassaemia.

A 23-year-old man with a diagnosis of thalassaemia major on regular blood transfusions presented with complaints of intermittent gum bleeds, joint pain, palpable purpura and ecchymoses in both lower limbs, which was confirmed to be scurvy. He improved dramatically with vitamin C supplementation.

Scurvy in children - A neglected disease?

BACKGROUND: The incidences of pediatric scurvy has decreased substantially, particularly in developed countries, but there are still reports of it from developing countries. Unusual manifestations have led to delays in diagnosis and treatment. Nevertheless, there are few publications regarding misdiagnosis of scurvy. The objective is to determine dietary factors, clinical manifestations, laboratory and radiologic findings, treatment, and outcomes of scurvy cases. The occurrence of misdiagnosis and its associated factors are also explored. METHOD: The medical records of 0-18 year-old children from 2003 to 2016, diagnosed with scurvy, were included and reviewed. Clinical data, and data regarding feeding history, nutritional status, laboratory and radiologic findings, and misdiagnosis were collected. Univariate and logistic regression analysis were used for identification of the independent associated factors. RESULTS: The study consisted of 106 children. The boys-to-girls ratio was 2.2:1, and their mean age was 44.65 months ± 30.50 months. The common manifestations were refusal to walk, tenderness, and swelling at the lower extremities. Four participants had unusual manifestations including proptosis and scalp hematoma. Low serum vitamin C level and abnormal radiologic findings were detected in most patients. All of them fully recovered after receiving vitamin C supplementation. Misdiagnosis was identified in 74 cases (69%). Logistic regression analysis revealed that temperature higher than or equal to 38 °C, participants aged 3 years or below, and swelling at lower extremities were independently associated with misdiagnosis (adjusted OR 5.91, 3.78, and 3.56 respectively). CONCLUSIONS: Scurvy still exists, and misdiagnosis often occurs. Taking a careful medical history and conducting a physical examination are still the best way to diagnose scurvy.

Scurvy in Children: The Silent Masquerader.

In modern society, scurvy is well known in its historical perspective rather than clinical relevance. Scurvy is classically thought to manifest with signs of 'bleeding painful gums' in the undernourished. Little is known regarding its ability to mimic a wide range of rheumatological, orthopaedic, neurological and haematological illnesses. Due to the rarity of its occurrence, there is a poor understanding among present-day clinicians, and so scurvy can easily deceive the uninitiated. We report a school-aged boy with normal neurodevelopment who presented with lower limb pain and difficulty in walking. He was seen by multiple specialist doctors before the clinical diagnosis of scurvy was made by a general paediatrician. Investigations showed that this child had X-ray changes typical of scurvy with low serum ascorbic acid levels. On supplementation with vitamin C, he showed dramatic improvement in symptoms and gradually achieved complete recovery.

Suspicion of Munchausen syndrome by proxy with a child's presentation of undernutrition, scurvy, and an apparent Avoidant Restrictive Food Intake Disorder.

PURPOSE: Avoidant Restrictive Food Intake Disorder (ARFID) was recently characterized in the DSM-5 classification. Potential differential diagnoses remain poorly reported in the literature. Our purpose was to present a possible Munchausen syndrome by proxy with undernutrition and scurvy, presenting as ARFID in a child. METHODS: We describe here a case of an 8-year-old boy who presented with severe undernutrition (BMI = 11.4) and scurvy leading to joint pains. The boy had had a very selective diet since early childhood, and his condition required hospitalization and enteral refeeding. Because of his specific eating behaviour, an ARFID was initially suspected. However, observation of the mother-child relationship, analysis of the child's eating behaviour, and retrospective analysis of his personal history suggested that this was not a true ARFID, and that the selective eating behaviour had probably been induced by the mother over many years, who probably maintained a low variety diet. CONCLUSION: Munchausen syndrome by proxy is a difficult differential diagnosis, which may also affect patients with ARFID symptoms, which may also present in the affected child as apparent ARFID. LEVEL OF EVIDENCE: Level V, descriptive study.

Spontaneous retrobulbar hemorrhage in the setting of warfarin therapy and latent scurvy diagnosis.

We present a case of spontaneous nontraumatic retrobulbar hemorrhage associated with anti-coagulation therapy and a new diagnosis of scurvy. A 68-year-old male on chronic anti-coagulation therapy presented with a retrobulbar hemorrhage requiring urgent canthotomy and cantholysis. Despite the absence of a supratherapeutic INR and normal clotting factors, the patient continued to have spontaneous hemorrhages within the orbit and elsewhere. Workup revealed a severe vitamin C deficiency consistent with scurvy. Further investigation of dietary history demonstrated an avoidance of all citrus fruit upon starting warfarin due to misunderstanding in medication counseling on avoidance of grapefruit. With repletion of vitamin C and further medication counseling, the patient had no further episodes of spontaneous hemorrhage.

Scurvy and Tinea Corporis Simulating Leukocytoclastic Vasculitis.

ABSTRACT: Leukocytoclastic vasculitis (LCV) is a small vessel inflammatory condition considered to be caused by circulating immune complexes and often occurs after an acute infection or exposure to a new medication, although it may be associated with an underlying systemic disease or be idiopathic in nature. It is important to determine the etiology, identify the extent of the disease for early intervention and appropriate management, and treat and/or eliminate the underlying cause. Here, we report cases of scurvy and tinea corporis that presented with histopathologic features of LCV and had significant clinical improvement with treatment of the underlying etiologies. These cases emphasize that histopathologic features of early evolving LCV may be seen in other settings including scurvy and tinea corporis. Appropriate treatment of the underlying condition is important for optimized patient management.

Scurvy in a Pediatric Patient With Autism and Limp: A Case Report.

BACKGROUND: Limping is a common chief complaint in the pediatric emergency department (ED) and can be difficult to assess in pediatric patients, particularly if they have developmental delay. CASE REPORT: We present a case of a 5-year-old male with nonverbal autism who presented with a progressive limp, weakness, pain, and rash over the course of 1 month. A magnetic resonance imaging scan of the pelvis performed while the patient was sedated revealed multifocal osseous marrow signal abnormalities, ultimately consistent with vitamin C deficiency or scurvy. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Scurvy can present with nonspecific limp, rash, and bony pain and should be considered in pediatric patients with developmental/sensory delay who may restrict their diets. Emergency physicians should broaden their differential diagnoses to nutritional deficiencies such as scurvy in the evaluation of pediatric patients with limp.

Modern Day Scurvy in Pediatric Orthopaedics: A Forgotten Illness.

INTRODUCTION: Scurvy, or vitamin C deficiency, is rare. The goal of this study is to highlight the common risk factors and identify the orthopaedic presentation of scurvy in children. METHODS: A retrospective chart and radiograph review was performed of all patients consulted to the pediatric orthopaedic service from 2010 to 2019 who ultimately had the diagnosis of scurvy confirmed by an abnormally low serum vitamin C level. Data extracted included: patient age, sex, neurological conditions, prematurity, psychiatric conditions, dietary abnormalities, bone pain, arthritis, limb swelling, inability to walk, skin changes, child abuse evaluations, radiographic findings, additional vitamin deficiencies, lab studies, additional tests, response to treatment. Descriptive statistics were performed. RESULTS: Nine patients (7 males, 2 females) with scurvy were studied. The average age was 7 years (range 3 to 13 y). The average body mass index was 21.4 (range, 14 to 30). Five had autism, 2 had a neurological disorder. Two had been born premature. Two had a psychiatric disorder. Seven had an abnormal diet. One presented with bone pain. Four presented with limb swelling. Seven had unilateral and 2 had bilateral leg symptoms. Five presented with inability to walk. Six demonstrated skin changes with ecchymosis or petechiae. Three presented with gingival bleeding. Radiographic findings included subperiosteal hematoma in 2, ring epiphysis in 3, Pelkan spurs in 1, metaphyseal white lines (Frankel sign) in 6, and a metaphyseal zone of rarefaction (Trummerfeld zone) in 3. Seven had additional vitamin deficiencies including: A, B1, B6, B9, D, E, K, iron and zinc. Four had a bone marrow biopsy and 1 had lumbar puncture. All were anemic. The average erythrocyte sedimentation rate was 25.7 (range 6 to 35) and C-reactive protein was 1.5 (range 0.55 to 5.64). Six had a computed tomography, 3 had a magnetic resonance imaging. After treatment with vitamin C lasting 3.4 months (range, 2 wk to 7 mo), all symptoms gradually resolved, including leg pain and swelling. All children began to walk. CONCLUSION: The pediatric orthopaedic surgeon should have an increased awareness about the diagnosis of scurvy when consulted on a child with bone pain or inability to walk. The most common orthopaedic presentation was the refusal to bear weight, the most common radiographic finding was the metaphyseal line of increased density (Frankel sign) and treatment with vitamin c supplementation was excellent in all cases.

Florid Scurvy in an Autistic Child on a Ketogenic Diet.

ABSTRACT: Ketogenic diets used for treating various neurological disorders can have potentially serious adverse effects. Among these is scurvy, a rarely reported, yet potentially fatal adverse effect of the ketogenic diet caused by vitamin C deficiency. We report a case of a 5-year-old patient with autism, who presented with scurvy secondary to the dietary restrictions of a ketogenic diet. Our review of the literature showed a single previously reported case of vitamin C deficiency in a patient on ketogenic diet. We have also reviewed the clinical indications and adverse effects of ketogenic diets with special reference to scurvy. This case emphasizes the importance of vitamin supplements in patients consuming a special diet.

Vitamin C deficiency in a picky eater child.

Vitamin C deficiency or scurvy is an uncommon condition that occurs in poorly developed countries or in refugee camps. Nonetheless, in countries where food is readily available, like Malaysia, occasionally there are cases of vitamin C deficiency reported. Although it was primarily reported in children with special needs or learning disability, scurvy is encountered in children with normal development, among the severe picky eaters. We present here case of a nine-year-old picky-eating boy with scurvy. The development of scurvy in this child took several years, especially after he became a very selective eater at the age of five. The child had displayed limping when walking with knee-joint pain before he came to a primary hospital. However, his condition was not diagnosed promptly and progressively worsened until he was unable to walk. Thus, it is crucial to recognize scurvy in children who limps and are severe picky eaters.

Scurvy Masquerading as Juvenile Idiopathic Arthritis or Vasculitis with Elevated Inflammatory Markers: A Case Series.

Ten patients with scurvy were evaluated by rheumatology; we review their clinical, laboratory, and dietary presentations. Eight patients had developmental delay or autism. All had elevated inflammatory markers. These clinical and laboratory features with imaging findings can mimic rheumatic conditions such as arthritis, vasculitis, and chronic nonbacterial osteomyelitis (CNO).

No longer a historical ailment: two cases of childhood scurvy with recommendations for bone health providers.

PURPOSE: Scurvy, due to vitamin C deficiency, is commonly referenced as a "forgotten" or "historical" disease. A growing number of case reports challenge this notion. Bone health providers are often consulted early in the presentation of scurvy to evaluate musculoskeletal complaints resulting from impaired collagen production and disrupted endochondral bone formation. In this report, we describe two cases of childhood scurvy. Our objective is to summarize the key features of scurvy for bone health providers, with the goal of raising awareness and facilitating diagnosis in future cases. CASE DESCRIPTIONS: Case one occurred in a 12-year-old non-verbal, non-ambulatory female on a ketogenic diet for refractory epilepsy. Clinical findings included hemarthrosis, transfusion dependent anemia, elevated inflammatory markers, and epiphysiolysis. Magnetic resonance imaging (MRI) revealed multi-focal bone marrow signal abnormalities and physeal irregularities. Case two occurred in a typically developing 5-year-old male presenting with limp and knee pain. Symptoms progressed despite casting and immobilization. Mild anemia, elevated inflammatory markers, and multi-focal marrow and physeal MRI abnormalities were identified. Subsequent dietary history revealed total absence of fruit or vegetable consumption. The diagnosis of scurvy was confirmed in both cases by undetectable plasma vitamin C concentrations. Treatment with vitamin C led to rapid clinical improvement. CONCLUSION: Scurvy can no longer be considered a historical diagnosis and should not be forgotten when evaluating children with musculoskeletal ailments. Early recognition of the signs, symptoms, and imaging findings of scurvy can reduce the clinical burden of this disease with the timely initiation of vitamin C therapy.

The neuropsychiatric effects of vitamin C deficiency: a systematic review.

BACKGROUND: 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. METHODS: Relevant studies were identified via systematic literature review. 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. CONCLUSIONS: 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. Vitamin C replacement is inexpensive and easy to deliver, although as of yet there are no outcome studies investigating the neuropsychiatric impact of vitamin C replacement in those who are deficient.

Endoplasmic reticulum thiol oxidase deficiency leads to ascorbic acid depletion and noncanonical scurvy in mice.

Endoplasmic reticulum (ER) thiol oxidases initiate a disulfide relay to oxidatively fold secreted proteins. We found that combined loss-of-function mutations in genes encoding the ER thiol oxidases ERO1α, ERO1ß, and PRDX4 compromised the extracellular matrix in mice and interfered with the intracellular maturation of procollagen. These severe abnormalities were associated with an unexpectedly modest delay in disulfide bond formation in secreted proteins but a profound, 5-fold lower procollagen 4-hydroxyproline content and enhanced cysteinyl sulfenic acid modification of ER proteins. Tissue ascorbic acid content was lower in mutant mice, and ascorbic acid supplementation improved procollagen maturation and lowered sulfenic acid content in vivo. In vitro, the presence of a sulfenic acid donor accelerated the oxidative inactivation of ascorbate by an H(2)O(2)-generating system. Compromised ER disulfide relay thus exposes protein thiols to competing oxidation to sulfenic acid, resulting in depletion of ascorbic acid, impaired procollagen proline 4-hydroxylation, and a noncanonical form of scurvy.

James Cook's first Pacific voyage: alleged scurvy-freedom unmasked.

The east coast of New Holland was discovered 250 years ago during a voyage of covert strategic exploration of the Pacific Ocean regions by Lieutenant James Cook acting under instructions of the Royal Navy espionage chief, Philip Stephens, Secretary of the Admiralty. In addition to the study of the transit of Venus, the well resourced mission included some clandestine mapmaking during August 1768 to July 1771. Tasked by the Royal Society of London to investigate the anti-scorbutic effects of a variety of foods and herbs, Cook's post-operational debrief to the Admiralty included the inaccurate supposition that HM Bark Endeavour's cruise was scurvy-free. Why did Cook extend deceptive cartographic practices deliberately to conceal the apparent failure of the anti-scorbutic comestibles?

Cook's Endeavour, ship of discovery or ship of distemper: an assessment after 250 years.

The 250-year anniversary of Cook's landfall at Botany Bay on 28 April 1770, approximately half way through a global circumnavigation, was an extraordinary maritime undertaking. An enterprise of astronomy, cartography, cultural-botanical documentation and revelation achieved without a death from infectious disease and only 10 mild cases of scurvy in a ship's company of 95 men. The subsequent homeward journey was far less endurable, marked by shipwreck, unforeseen prolonged delays and fatal epidemics of flux and malaria. Mild scurvy within a handful of souls in a crew experimenting with several putative antiscorbutics, yet at voyage's end the precise treatment of scurvy remained enigmatic.