Differential Diagnosis for a 4-month-old Boy with Enlarged Tongue and Unilateral Leg Enlargement
- Single Most Likely Diagnosis
- Klippel-Trenaunay-Weber syndrome: This condition is characterized by congenital malformations, including hemihypertrophy (enlargement of one side of the body), which could explain the significant difference in leg circumference. The enlarged tongue could be a separate finding or associated with another condition, but given the other symptoms, Klippel-Trenaunay-Weber syndrome is a strong consideration.
- Other Likely Diagnoses
- Hemihypertrophy: This condition involves the enlargement of one side of the body and could explain the leg size discrepancy. It can occur in isolation or as part of other syndromes.
- Beckwith-Wiedemann Syndrome: Characterized by overgrowth, this syndrome can include features like macroglossia (enlarged tongue) and hemihypertrophy, making it a plausible diagnosis given the patient's symptoms.
- Lymphatic malformation: This could potentially explain the unilateral leg enlargement if there's an underlying lymphatic abnormality causing swelling.
- Do Not Miss Diagnoses
- Neurofibromatosis Type 1 (NF1): Although less likely, NF1 can cause hemihypertrophy and other growth abnormalities. Missing this diagnosis could lead to delayed detection of associated serious conditions like optic gliomas.
- Malignancy (e.g., soft tissue sarcoma): Although rare in this age group, any significant and unexplained asymmetry or growth abnormality warrants consideration of malignancy to ensure prompt diagnosis and treatment.
- Rare Diagnoses
- Proteus syndrome: A rare condition characterized by an overgrowth of the skin, bones, and organs, which could potentially explain the findings, though it's much less common.
- Congenital vascular malformations: These could cause localized overgrowth or swelling, such as in the case of a arteriovenous malformation, but would be less likely to cause the specific combination of findings described.