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Scurvy Findings in a Child with Jacobsen Syndrome: A Case Report
Alan C Puddy1, Jessica L Hughes2, Avrum L Joffe3
1United States Air Force Medical Corps, San Antonio Military Medical Center, Fort Sam Houston, Texas.
JBJS Case Connector
|October 5, 2019
Summary
This case study highlights scurvy in Jacobsen syndrome, often missed due to other conditions. Prompt vitamin C treatment resolved symptoms, emphasizing nutritional awareness.
Area of Science:
- Medical Case Study
- Nutritional Deficiencies
- Genetics
Background:
- Jacobsen syndrome is a rare genetic disorder associated with developmental delays and distinctive facial features.
- Patients with complex medical histories and behavioral issues may present diagnostic challenges.
- Scurvy, a vitamin C deficiency, can manifest with bleeding symptoms.
Observation:
- A patient with Jacobsen syndrome presented with bleeding symptoms.
- These symptoms were initially misattributed to thrombocytopenia and platelet dysfunction.
- The diagnostic delay highlights the importance of considering nutritional deficiencies.
Findings:
- The patient was diagnosed with scurvy secondary to behavioral traits of Jacobsen syndrome.
- Vitamin C supplementation led to rapid resolution of scurvy signs and symptoms.
- This case underscores the potential for nutritional deficiencies to be overlooked.
Implications:
- Clinicians should consider nutritional deficiencies, including scurvy, in patients with complex conditions like Jacobsen syndrome.
- Behavioral traits can impact nutritional intake and warrant careful assessment.
- Early recognition and treatment of nutritional deficiencies are crucial for patient outcomes.
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