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.

Scurvy presenting as difficulty in walking in a child.

Scurvy, a disease caused by ascorbic acid (vitamin C) deficiency, is a rare disease in the modern world. We report a case of a boy in middle childhood, with a background of autism, presenting bed-bound due to progressive bilateral lower limb pain, with concomitant rashes, bleeding gums and worsening lethargy. Detailed dietary history revealed a severely restricted diet. Physical examination showed bilateral lower limb ecchymoses, perifollicular hemorrhages, perifollicular hyperkeratosis and cockscrew hairs which are pathognomonic features of scurvy. A low serum ascorbic acid level confirmed the diagnosis. Therapy with oral vitamin C supplement and rehabilitation with multidisciplinary care was successful, with complete resolution of symptoms. This case emphasises the importance of thorough dietary evaluation in children with autism and food selectivity presenting with non-specific symptoms. Physician awareness of nutritional deficiencies avoids unnecessary extensive investigations and sub-specialty referrals and translates to savings in medical expenses.

Unusual Presentation of Pediatric Scurvy: A Necrotic Gastrostomy Tube Site in a 14-Year-Old Boy.

BACKGROUND Despite being considered a disease of the past, pediatric scurvy is increasingly reported in developed countries, especially among children with autism spectrum disorder, developmental delays, or a restrictive diet. Pediatric patients typically present with lower extremity pain or refusal to walk. This case study features an atypical presentation of scurvy in a non-ambulatory patient. CASE REPORT A 14-year-old boy with arthrogryposis multiplex congenita displayed a late-stage scurvy symptom: a necrotic gastrostomy tube site, indicative of poor wound healing due to vitamin C deficiency. The usual telltale symptoms of scurvy were camouflaged due to his non-ambulatory status, which may have contributed to a delayed presentation. Nevertheless, a comprehensive clinical evaluation, incorporating diet history, gingival symptoms, petechiae, and characteristic radiological signs, eventually led to the correct diagnosis. Although acute osteomyelitis was initially suspected, it was subsequently ruled out. Upon initiation of vitamin C therapy, the patient's symptoms subsided within a few days, and the necrotic tissue surrounding the gastrostomy tube healed completely within two weeks. CONCLUSIONS The highlighted case underscores the importance of including scurvy in the differential diagnosis for pediatric patients with lower extremity pain without fever. A detailed dietary history focusing on vitamin C intake is crucial during clinical evaluation. Early initiation of vitamin C therapy, when scurvy is suspected, may prevent unnecessary and extensive diagnostic workup for other potential causes, offering timely relief to the patient.

Difficult to think about but easy to treat: scurvy.

OBJECTIVES: Severe vitamin C deficiency, or scurvy, presents as a syndrome of multisystem abnormalities associated with defective collagen synthesis and antioxidative functions. The many clinical features of scurvy lead to frequent misdiagnoses, as they can often point to other diseases, such as vasculitis, venous thrombosis and musculoskeletal disorders. As such, an extensive workup is recommended in cases in which scurvy is suspected. CASE PRESENTATION: A 21-month-old male patient and a 36-month-old female patient presented with difficulty in walking, painful joint movements, irritability, gingival hypertrophy and bleeding. After exhaustive investigations and risky invasive procedures, vitamin C deficiency was diagnosed in both cases, and the symptoms improved dramatically with vitamin C treatment. CONCLUSIONS: The importance of taking a dietary history in pediatric patients is highly recommended. In cases where scurvy is considered, serum ascorbic acid levels should be checked to confirm the diagnosis prior to conducting invasive tests.

History of scurvy and use of vitamin C in critical illness: A narrative review.

In 1747, an important milestone in the history of clinical research was set, as the Scottish surgeon James Lind conducted the first randomized controlled trial. Lind was interested in scurvy, a severe vitamin C deficiency which caused the death of thousands of British seamen. He found that a dietary intervention with oranges and lemons, which are rich in vitamin C by nature, was effective to recover from scurvy. Because of its antioxidative properties and involvement in many biochemical processes, the essential micronutrient vitamin C plays a key role in the human biology. Moreover, the use of vitamin C in critical illness-a condition also resulting in death of thousands in the 21st century-has gained increasing interest, as it may restore vascular responsiveness to vasoactive agents, ameliorate microcirculatory blood flow, preserve endothelial barriers, augment bacterial defense, and prevent apoptosis. Because of its redox potential and powerful antioxidant capacity, vitamin C represents an inexpensive and safe antioxidant, with the potential to modify the inflammatory cascade and improve clinical outcomes of critically ill patients. This narrative review aims to update and provide an overview on the role of vitamin C in the human biology and in critically ill patients, and to summarize current evidence on the use of vitamin C in diverse populations of critically ill patients, in specific focusing on patients with sepsis and coronavirus disease 2019.

Gait Disturbance of Red Herrings, Oranges, and Lemons - A Case of Missed Vitamin C Deficiency and Lessons Learnt.

Vitamin C deficiency resulting in scurvy, is considered to be a rare nutritional disorder in developed countries, thus leading to underdiagnosis with exposure to unnecessary investigations and delay in appropriate treatment. The wide myriad of clinical signs and symptoms with which vitamin C deficiency can present (including haematological, musculoskeletal and vague constitutional symptoms that overlap with other common medical conditions), also contributes to this diagnostic challenge. Despite scurvy being habitually thought to be present in children with neurodevelopmental conditions such as autism spectrum disorder, other important at-risk groups that frequently tend to be forgotten include children with persistent fussy eating behaviour, and children with abnormal vitamin C metabolism. We hereunder present a case of a 10-year-old boy who presented to an acute general hospital for further investigation with gait disturbance. The lack of detailed nutritional assessment on presentation in the first instance led to a missed diagnosis of vitamin C deficiency, thus exposing the child to a wide array of unnecessary investigations and treatments. The added perplexity to the case resulting from false positive results of investigations performed as part of this child's workup, is also discussed.

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.

Scurvy: a rare cause of haemarthrosis.

A male in his 60s with a history of previously treated locally advanced head and neck cancer presented to the emergency department with atraumatic left knee pain and upper and lower extremity ecchymoses that had been present for 3 weeks. His initial laboratory results showed a normocytic anaemia, normal platelet count, slightly abnormal coagulation studies and normal inflammatory markers. Arthrocentesis of the left knee revealed haemarthrosis, and additional laboratory workup found an undetectable serum vitamin C (ascorbic acid) level consistent with scurvy. It was determined that scurvy had predisposed the patient to injury, leading to haemarthrosis. Following vitamin C supplementation, dietary and activity modifications, and acetaminophen as needed, the patient's serum vitamin C level normalised and his left knee pain and swelling improved. Scurvy is a rare cause of haemarthrosis, but it should be recognised in at-risk patients since treatment is effective.

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 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.

High-dose vitamin C therapy for symptomatic deficiency in a patient with myasthenia gravis and Crohn's disease.

Vitamin C (ascorbic acid) is an essential water-soluble antioxidant, and deficiency (ie, plasma level <11 µmol/L) can result in scurvy. People at the highest risk for vitamin C deficiency (ie, scurvy) are those with inadequate intake, such as patients with alcohol abuse disorder, malnutrition, psychiatric disorders, restrictive eating habits, and food insecurity, as well as those with malabsorptive syndromes. We present a case of a 26-year-old woman with Crohn's colitis, myasthenia gravis, and juvenile rheumatoid arthritis who presented with frequent bruising, epistaxis, and excessive bleeding from small cuts and who was found to be deficient in vitamin C. Plasma levels initially normalized with oral vitamin C supplementation, but bleeding symptoms eventually returned despite high-dose oral supplementation with 2000 mg daily. She ultimately required routine intravenous supplementation in the home setting for the normalization of levels and the resolution of symptoms. Case reports of vitamin C deficiency typically involve patients with an inadequate intake of vitamin C-containing foods or inadequate absorption. In contrast, our patient reported a regular intake of vitamin C-containing foods, in addition to oral supplementation, but continued to have difficulty maintaining normal vitamin C levels. Scurvy should be considered for any patient with symptoms of bleeding, petechiae, or ecchymosis and, although it can typically be treated with oral vitamin C, intravenous repletion may be necessary in some cases.

Scurvy: the almost forgotten disease - a case report.

Hypovitaminosis C, or scurvy, is thought to be an uncommon condition. Although prevalent in the 19th century, its ease of absorption and availability in a general diet has greatly reduced its incidence. Vitamin C is necessary for a number of physiological processes and deficiency can result in a number of complications including bleeding/bruising, anaemia and gingival hyperplasia. This case report demonstrates a case of hypovitaminosis C presenting to a tertiary hospital related to poor dietary intake in a patient with behavioural medical conditions. Treatment consisted of oral supplementation of vitamin C with almost immediate resolution of presenting symptoms.

Scurvy as an Alarm Bell of Autistic Spectrum Disorder in the First World: A Case Report of a 3-Year-Old Girl.

BACKGROUND Scurvy secondary to deficiency of vitamin C is a rare condition in children. The polymorphism of clinical signs and symptoms makes scurvy diagnosis a challenge for the pediatrician. CASE REPORT A 3-year-old girl came to our observation because she refused to walk and to stand, she showed petechiae, follicular hyperkeratosis on the limbs, and bleeding gums. After a physical exam, laboratory tests, and X-ray examinations, we suspected scurvy disease and started treatment with vitamin C. During the hospitalization, some relationship difficulties of the little girl emerged such as absence of eye contact, smiling and laughter without reason, solitary play activities, poor interaction with strangers, non-communicative language, and gestural stereotypes. Therefore, we suspected an autism spectrum disorder, which is often associated with vitamins intake deficiency secondary to food selectivity. After the administration of vitamins, there was a clinical improvement. Due to the suspicion of autism spectrum disorder, the neuropsychiatric team started neuro-psychomotor and speech therapy. CONCLUSIONS This case shows that although the incidence of scurvy has been greatly reduced in Western Europe, this pathology can still manifest itself, especially in vulnerable children, and its prompt diagnosis and therapy are important considering the excellent response to treatment.

Scurvy mimicking as systemic lupus erythematosus.

Scurvy is a disease caused by chronic vitamin C deficiency. The greater prevalence was found in the paediatric population with neurodevelopmental disorders such as autism spectrum disorders due to their restricted dietary intake. Our case reported a child with autism who presented with arthralgia and anaemia. Systemic lupus erythematosus was the first diagnostic impression, resulting in over investigation and delayed diagnosis of vitamin C deficiency. After the child was treated with ascorbic acid, the child's symptoms resolved. This case highlighted the importance of developmental and nutritional history taking in the paediatric population. Furthermore, parents and physicians should be concerned about nutritional status, especially in children with restrictive dietary intake.