Summary
Definition
History and exam
Key diagnostic factors
- vitamin C deficiency upon dietary review
- constitutional symptoms
- easy bruising or bleeding
- gait impairment or leg pain
- pedal oedema
- petechial and perifollicular haemorrhages (legs and feet)
- poor wound healing
- bruising and nodular or black ecchymoses at non-traumatic sites
- joint swelling
- oral mucosal petechiae
- coiled hairs
- follicular hyperkeratosis
- tooth loss
- gingival discoloration
- gum swelling
- lid petechiae and haemorrhages
- proptosis
- conjunctival and subconjunctival haemorrhage
Other diagnostic factors
- dysphagia
- alopecia
- sicca-like or Sjogren's-like syndrome
- nail clubbing
- peripheral (entrapment) neuropathy
- CVA
- CHF
- haemorrhagic pleural effusion
- osteoporosis
Risk factors
- famine and refugee populations
- older people
- living alone
- psychiatric disorders
- alcoholism
- dementia
- low income
- faddist diet
- poor dentition or masticatory inefficiency
- autistic spectrum disorder
- static encephalopathies of childhood
- infants taking only cow's milk
- end stage renal disease and/or haemodialysis dependence
- smoking
- surgery
- sepsis
- HIV
- critical illness
- ARDS
- pancreatitis
- graft versus host disease (GVHD)
Diagnostic investigations
1st investigations to order
- FBC and peripheral blood smear
- serum ascorbic acid
- leukocyte ascorbic acid
- whole blood ascorbic acid
- x-ray of knee and wrist
Investigations to consider
- MRI of knee, wrists, and long bones in paediatric cases
- bone marrow biopsy
Treatment algorithm
Contributors
Authors VIEW ALL
Assistant Professor of Neurology
Columbia University Medical Center
Department of Neurology
Taub Institute for Research on Alzheimer’s Disease and the Aging Brain
G.H. Sergievsky Center
Columbia University
New York
NY
Disclosures
JMN declares that he has no competing interests.
Chair
Division of Child and Adolescent Neurology
Professor of Neurology, Pediatrics, and Medical Genetics
Director
Child Neurology Training Program
Mayo Clinic
Rochester
MN
Disclosures
MCP declares that he has received consultancy fees from Actelion, Alexion, Agios, Novartis, Orphazyme, Shire, and Vtesse; travel and accommodation expenses from Actelion, Alexion, Agios, and Shire; a grant from Actelion; honoraria from Journal of Child Neurology/Child Neurology Open and Journal of Inherited Metabolic Disease; and royalties from Up-to-Date.
Peer reviewers VIEW ALL
Endocrinologist
Molecular and Clinical Nutrition Section
Digestive Diseases Branch
National Institute of Diabetes and Digestive and Kidney Diseases
Bethesda
MD
Disclosures
SP declares that he has no competing interests.
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