Dr.Kiri Hardikkumar Kherajbhai, K20322
BACKGROUND
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with autosomal dominant inheritance. Multiple benign tumors can occur in any organ- skin, brain, kidneys or eyes; sometimes with significant morbidity.
METHODS
A 17 year old girl presented with severe anemia (Hb-5.8g/dl). Systemic examination showed facial angiofibromas. CT scan & USG indicated Renal angiomyolipoma with central hemorrhagic area. S. Ferritin- 687.5ng/ml, S. LDH- 1624U/L, PBF-normocytic to microcytic cells & leucopenia. Retinal hamartoma was observed in R/E.
RESULT
The case is unique as it presented with Anemia and, on examination was diagnosed as TSC with 3 Major features- facial angiofibroma, retinal hamartoma and renal angiomyolipoma.
CONCLUSION
TSC with Anemia is a rare disease. The appropriate diagnosis is made by proper history taking and systemic examination. Fundus examination in non-symptomatic patient can act as a valuable tool for final diagnosis.
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