TWISTED RIBBON’S RIB

Q.Twisted ribbon’s rib is found in

a.neurofibromatosis

b.fibrous dysplasia

c.Paget’s disease

d.eosinophilic granuloma

ANS===a------ neurofibromatosis

FACTS ABOUT NEUROFIBROMATOSIS

The most common neurocutaneous syndrome (1 in 3000–4000 births)
One of the most common inherited central nervous system (CNS) disorders,
The most common autosomal dominant condition,
Due to a mutation on chromosome 17 which encodes for the tumour suppressor gene product neurofibromin
The most common inherited tumour syndrome.
Half are new mutations.

DIAGNOSTIC CRITERIA FOR NEURO-FIBROMATOSIS TYPE 1

The diagnosis is made on the basis of at least two major criteria. Minor criteria are supportive of the diagnosis.

Major criteria	Minor criteria
Café-au-lait spots	Small stature
Freckling in the inguinal or axillary areas	Macrocephaly
One plexiform neurofibroma or two neurofibromas of any type	Scoliosis
Visual pathway glioma	Pectus excavatus
Two or more lisch nodules of iris	‘Hamartomatous lesions' of NF1
Distinctive osseous lesion, e.g. sphenoid dysplasia or thinning of cortex	Neuropsychological abnormalities
First-degree relative with neurofibromatosis type 1 (NF1)

RADIOGRAPHIC FEATURES OF NEUROFIBRO-MATOSIS

Soft tissues	Focal gigantism (soft tissue overgrowth or plexiform neurofibroma)
	Neurofibrosarcomas
Skull	Macrocrania
	Aplasia/hypoplasia of the sphenoid wings (empty orbit)
	Hypoplasia of posterosuperior orbital wall (pulsatile exophthalmos)
	Mesodermal dysplasia (calvarial defects)
	Neuromas and/or fibromas (with enlarged cranial foramina
Spine	Angular kyphoscoliosis
	Posterior scalloping of the vertebral bodies (dural ectasia)
	Dumb-bell neurofibromas/lateral meningocoeles
Ribs	‘Ribbon’ nibs (mesodermal dysplasia)
	Rib notching
Tubular bones	Pseudoarthroses of the tibia, fibula, or clavicle
	Anteromedial bowing of tibia
	Fibrous cortical defects (multiple and large)
	Intraosseous cysts

REF

Adam: Grainger & Allison's Diagnostic Radiology, 5th ed.