Muhamad Na'im B Ab Razak (jacknaim) is a fresh graduate Muslim Doctor from Universiti Sains Malaysia and waiting for the enrollment into the housemanship program. Ambitious in pursuing master program in emergency and traumatology medicine and loves to spent his free time joining humanitarian missions, writing and speaks as an amateur public speaker in motivation and comparative religion. [HOME]

46 years old man with bilateral limb weakness and skin manifestation

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