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.

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.

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.

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.

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.

Do You C What I C: Emergency Department Evaluation and Diagnosis of Pediatric Scurvy in an Autistic Child With a Restricted Diet.

Scurvy in modern times may not be as rare as previously thought. The link between adequate intake of vitamin C and scurvy has been known since ancient times and is recorded in Ebers Papyrus. Recent reports indicate that, with restricted diets, vitamin C deficiency is being seen in infants exclusively fed plant-based formula and children with oral aversion, autism, restricted diets, and cerebral palsy. Additional at-risk groups include the older adults and patients having alcoholism. Often costly, emergency department visits and elaborate diagnostic studies lead to fruitless results when a simple diet history is often overlooked. Here, we report a case of pediatric scurvy in an 11-year-old autistic child with a restricted diet who presented with refusal to walk, fatigue, a purpuric rash, and gingival bleeding. The diagnosis was made based on diet history, physical examination findings, and symptom resolution with vitamin C supplementation. Our case report reaffirms that vitamin C deficiency still occurs and should be considered in children with restrictive diets. Early recognition of this disease by physicians provides early diagnosis, avoids costly diagnostic workup and hospitalization, and expedites effective treatment.

Scurvy presenting with limp and weakness: a case report.

BACKGROUND: Scurvy is one of the oldest diseases known to mankind. Although presently rare in the developed world, scurvy was a common potentially fatal disease. In recent times, the most common risk factors for scurvy include alcoholism, low socioeconomic status, and severely poor nutrition or dietary restriction secondary to psychiatric illness or developmental disorders. Our case demonstrates the importance of having a high index of clinical suspicion of an uncommon disease in developed countries and emphasizes the necessity of a dietary screening that could potentially reduce extensive work-up in patients with nonspecific complaints. CASE PRESENTATION: We report a case of a 3-year-old previously healthy female originally seen in the rheumatology clinic for limp. She developed weakness and was admitted to the hospital for further evaluation. She underwent extensive diagnostic testing including blood work, magnetic resonance imaging, lumbar puncture, electromyogram, and nerve conduction studies. Ultimately, her vitamin C level returned undetectable. She had immediate and complete improvement upon starting vitamin C supplementation. CONCLUSIONS: Despite being developmentally appropriate, our patient's refusal to eat fruits or vegetables had limited her diet, emphasizing the importance of obtaining a diet history in a child presenting with an unknown diagnosis. In addition, our patient had no other characteristic features of scurvy, which further supports the need to consider this diagnosis in a child presenting with lower extremity weakness or abnormal gait.

A 3-Year-Old With Gingival Hemorrhage and Musculoskeletal Pain.

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?