Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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).
 ...
PMID:Scurvy Masquerading as Juvenile Idiopathic Arthritis or Vasculitis with Elevated Inflammatory Markers: A Case Series. 3184 13

Paediatric scurvy is uncommon in the modern age but cases have been reported in children with neurodevelopmental issues and restricted dietary habits. The broad clinical picture is frequently overlooked as primarily other systemic diseases are considered first leading to extensive investigations and delay in diagnosis. A 4-year-old boy with autism and bilateral lower limb pain and refusal to walk is reported. His restricted diet and radiographic findings were highly suggestive of scurvy which was confirmed by the extremely low levels of ascorbic acid. Treatment with ascorbic acid replenishment and maintenance resulted in remarkable improvement. This case highlights the importance of a high index of suspicion in at-risk children so as to avoid unnecessary invasive investigations and procedures.
 ...
PMID:Paediatric scurvy: frequently misdiagnosed. 3293 94

We present a case of an otherwise healthy 3-year-old child who presented with limping, bone pain, fatigue, and agitation. Differential diagnosis included an infection of the bone, malignancy, an inflammatory bone disease, and metabolic bone disease. Magnetic resonance imaging of the lower limbs and the spine was consistent with scurvy, and the diagnosis was confirmed by very low levels of vitamin C. Further history taking revealed a diet based entirely on dairy pudding, with no fruits or vegetables, and being a "picky eater" was the sole reason. Intravenous treatment with vitamin C led to full recovery. Previous reports of scurvy were in patients with other medical conditions, such as malabsorption, or behavioral conditions as in autism. This case demonstrates that scurvy, an almost forgotten condition from past centuries, can occur in otherwise healthy children and should raise awareness regarding the importance of a balanced diet and proper nutritional history taking. Following growth charts as the only screening tool for balanced and inclusive nutrition may not be sufficient.
 ...
PMID:"What can you C in a limping child?" Scurvy in an otherwise healthy "picky eater". 3310 52

Ascorbic acid (vitamin C) functions as a cofactor and antioxidant within the human body that enables tissue growth and repair, but vitamin C is not intrinsically produced. Scurvy, or ascorbic acid deficiency, has traditionally been viewed as a historical disease. With the incidence of autism spectrum disorder and food restriction on the rise, children's hospitals may see increasing cases of scurvy. This is a single-center, retrospective case series including patients aged 7 to 14 years who were admitted to the Kentucky Children's Hospital with scurvy in the 2018-2019 period. Although selective or restricted eating is not an uncommon behavior among children, especially toddlers, parents of autistic children frequently report their children to be exceedingly selective eaters. However, there currently are conflicting findings on whether this leads to nutritional inadequacy. Although no guidelines exist for the treatment of scurvy, the mainstay of therapy is reintroduction of vitamin C. Oral therapy is generally preferred, but vitamin C can be given parenterally when necessary. In conclusion, oral aversion is a symptom commonly seen in patients with autism spectrum disorder and other developmental delays, potentially leading to increased cases of scurvy. Treatment of scurvy includes reintroduction of vitamin C into the diet. However, oral supplementation may pose unique challenges in this patient population.
 ...
PMID:Pediatric Scurvy: How an Old Disease Is Becoming a New Problem. 3321 86


<< Previous 1 2