Answer
1) Findings in this picture
- Neurofibroma
- Cafe-au-lait spot
2) Neurofibromatosis type 1, TRO intraspinal involvement?
3) CAFÉ SPOT (Chew Nee Kong & Lim Kheng Seang, 2006)
- Cafe-au-lait spot (more than 6, 5mm in prepuberty & 15 mm in adult)
- Axillary freckling (Crowe’s sign)
- Fibroma
- Eye (Lisch nodules @ Iris hamartoma)
- Skletal (bowing of bone, dysplasia)
- Pedigree (Family history
- Optic Tumor
4) Autosomal dominant syndromes (chromosome 17q11.2)
5) Associated abnormalities
a) Lung cyst
b) Retinal hamartomas
c) Skeletal lesions
d) Learning disabilities
e) Aqueductal Stenosis
f) Epilepsy
g) Saromatous changes