Items tagged “phakomatoses”

12 results found
Article

Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a multisystem neurocutaneous disorder, the most common phakomatosis, and a RASopathy. Additionally, it is also one of the most common inherited CNS disorders, autosomal dominant disorders and inherited tumour syndromes....
Article

Neurofibromatosis type 2

Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder (phakomatosis) manifesting as a development of multiple CNS tumours. Unlike neurofibromatosis type 1 (NF1), it is not associated with neurofibromas.  Instead, patients with this disease have: intracranial schwan...
Case

SGCA in tuberous sclerosis

Foramen of Monroe...
 Diagnosis almost certain
Dr Paresh K Desai
Published 26 Mar 2009
65% complete
CT
Case

SGCA in tuberous sclerosis

 Diagnosis almost certain
Dr Paresh K Desai
Published 25 Jul 2009
65% complete
CT
Case

Tuberous sclerosis (Bourneville's disease)

calcified periven...
 Diagnosis certain
Dr Hani Salam
Published 30 Sep 2015
68% complete
CT
Case

Neurofibromatosis type 1

 Diagnosis almost certain
A.Prof Frank Gaillard
Published 20 Mar 2010
83% complete
MRI
Case

Renal angiomyolipoma

 Diagnosis certain
Dr Andrew Ryan
Published 13 Dec 2011
91% complete
Pathology
Case

Tuberous sclerosis

 Diagnosis certain
Dr Alexandra Stanislavsky
Published 25 Feb 2012
98% complete
CTMRIUltrasound
Case

Retinal astrocytic hamartoma on background tuberous sclerosis

Non-contrast enha...
 Diagnosis probable
Dr Naushad Ali Basheer Ahamed
Published 23 Feb 2013
68% complete
CT
Case

Neurofibromatosis type I

Dr Ahmed Abdrabou
Published 14 Apr 2013
62% complete
MRI
Article

Neurofibromatosis type 1 (cutaneous manifestations)

Cutaneous manifestations of neurofibromatosis type 1 (NF1), or von Recklinghausen disease, are the heralding features of this multisystem neurocutaneous disorder, which is the most common phakomatosis. Nowadays genetic testing permits the laboratory diagnosis of NF1 in as many as 95%, although ...
Case

Tuberous sclerosis

 Diagnosis certain
Dr Ahmed Fathi Ali
Published 31 Mar 2016
98% complete
MRI

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