A 2-year-old girl from rural Uttar Pradesh is brought to the clinic with her mother complaining of bleeding gums, poor wound healing, and recurrent infections over the past 2 months. The child was weaned at 6 months and fed primarily on boiled rice, lentils, and occasionally milk. On examination, she has bleeding gums with loose teeth, petechial rashes on the lower limbs, and poor healing of a minor cut on her knee sustained 3 weeks ago. Hemoglobin is 8.5 g/dL. What is the most likely diagnosis?

Explanation

## Clinical Diagnosis: Vitamin C Deficiency (Scurvy) ### Classic Presentation of Scurvy **Key Point:** Scurvy is caused by **vitamin C (ascorbic acid) deficiency** and presents with a triad of **bleeding manifestations, poor wound healing, and recurrent infections** due to defective collagen synthesis. This child exhibits the hallmark features: - **Bleeding gums** (swollen, friable, with loose teeth) - **Petechial rashes** (especially on lower limbs and around hair follicles) - **Poor wound healing** (cut on knee not healing after 3 weeks) - **Recurrent infections** (due to impaired immune function and defective collagen in immune barriers) - **Dietary history:** No fresh fruits or vegetables (rice, lentils, milk do not contain vitamin C) ### Pathophysiology: Why Vitamin C Deficiency Causes These Findings ```mermaid flowchart TD A[Vitamin C Deficiency]:::outcome --> B[Defective Collagen Synthesis]:::outcome B --> C[Weakened Blood Vessel Walls]:::outcome B --> D[Impaired Wound Healing]:::outcome B --> E[Defective Immune Function]:::outcome C --> F[Bleeding: Gums, Petechiae, Hemarthrosis]:::urgent D --> G[Poor Wound Healing]:::urgent E --> H[Recurrent Infections]:::urgent ``` **Mechanism:** 1. Vitamin C is a cofactor for **prolyl and lysyl hydroxylase** → hydroxylation of proline and lysine in collagen 2. Without hydroxylation → **defective collagen cross-linking** 3. Collagen becomes unstable → fragile blood vessels, poor wound healing, loose teeth 4. Impaired neutrophil and T-cell function → recurrent infections ### Clinical Features of Scurvy (Mnemonic: "BLEEDING GUMS") **Mnemonic:** **B**leeding gums, **L**oose teeth, **E**ccentric petechiae (around hair follicles), **E**dema, **D**ermatitis, **I**nfections, **N**ail hemorrhages, **G**eneral malaise, **U**lceration, **M**uscle pain, **S**wollen joints ### Differential Diagnosis: Bleeding Disorders in Children | Feature | Scurvy (Vit C) | Vitamin K Deficiency | Vitamin A Deficiency | IDA | |---------|---|---|---|---| | **Bleeding gums** | Yes (swollen, friable) | No | No | No | | **Petechiae** | Yes (perifollicular) | Yes (but no gum involvement) | No | No | | **Poor wound healing** | Yes (hallmark) | No | No | No | | **Loose teeth** | Yes | No | No | No | | **PT/INR prolonged** | Normal | Prolonged | Normal | Normal | | **Platelet count** | Normal | Normal | Normal | Normal | | **Recurrent infections** | Yes | No | Yes | Mild | | **Night blindness** | No | No | Yes | No | | **Dietary source** | Citrus, leafy greens | Leafy greens, fermented foods | Yellow/orange vegetables | Meat, fortified cereals | **High-Yield:** **Scurvy is the ONLY vitamin deficiency that presents with bleeding gums + poor wound healing + loose teeth.** This triad is pathognomonic. ### Why Scurvy in This Child - **Age 2 years:** Peak incidence of scurvy is 6 months–3 years (post-weaning) - **Diet:** Rice, lentils, and milk contain **minimal vitamin C** (no fresh fruits or vegetables) - **Bleeding gums + loose teeth:** Specific for scurvy (not seen in other deficiencies) - **Poor wound healing:** Collagen defect unique to vitamin C deficiency - **Recurrent infections:** Immune dysfunction in scurvy ### Laboratory Findings in Scurvy - **Serum ascorbic acid <0.2 mg/dL** (diagnostic) - **Hemoglobin:** May be low (8.5 g/dL in this case) due to iron deficiency (common comorbidity) or chronic disease - **Platelet count:** Normal (unlike thrombocytopenia in Vitamin K deficiency) - **PT/INR:** Normal (unlike Vitamin K deficiency) - **Bleeding time:** Normal ### Management of Scurvy 1. **Vitamin C supplementation:** 100–200 mg/day for 2–4 weeks 2. **Dietary counseling:** Fresh fruits (citrus, guava, mango), leafy greens, tomatoes 3. **Treat comorbid anemia:** Iron supplementation if IDA present 4. **Monitor for complications:** Hemarthrosis, intramuscular hemorrhage **Clinical Pearl:** Scurvy is **rapidly reversible** with vitamin C supplementation—bleeding stops within days, and gums heal within 1–2 weeks. This rapid response is diagnostic. [cite:IAP Nutrition Guidelines; Park 26e Ch 10; Harrison 21e Ch 74]