Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis

Table 1 Clinical features of "Twin 1" and "Twin 2".

Age at diagnosis	FEATURE	TWIN 1	TWIN 2
At birth	CLS	+	+
	Macrocephaly	+	+
	Pectus carinatum	+	-
	Scoliosis	+	-
	Tibial pseudoarthrosis	+	-
Childhood	Mild psychomotor delay	+	+
	Developmental dysphasia	+	+
	Hyperkinesia/attention disorder	+	+
	Hypotonia	-	+
	Strabismus	-	+
	Dental development delay	+	-
	Right valgus foot	+	+
	Bilateral flat feet	+	+
	Normal cranial CT	+	+
	Normal ophthalmologic examination	+	+
14 Y/O	Radial intraneural neurofibroma	+	-
20 Y/O	Plexiform neurofibroma of the left sciatic nerve	+	+ (bilateral)
	Multiple neurofibromas surrounding femoropopliteous vessels	+	-
22 - 24 Y/O	MPNST of the left sciatic nerve	+ (22 Y/O)	+ (24 Y/O)
24-27 Y/O	MPNST recurrences	+	-
	Osteoporosis	-	+
	Thymus hyperplasia	-	+
	Bilateral gynecomastia	-	+
	Left lung focal pleural thickening	+	+
	Pleural neurofibroma	+ (multiple)	+ (one)
	Hepatic hypodense lesion	+	+
	Paraspinal plexiform neurofibroma	-	+
	Psoas plexiform neurofibroma	+	-
	Multiple retroperitoneal neurofibromas	+	+
27 Y/O	Pulmonary MPNST metastasis	+ (right lung)	+ (left lung)

ISSN: 1471-2407