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Answer to Case of the Week: Feb 18-Feb 25, 2010

18 month old finding and underlying diagnosis please?


 




Fusiform enlargement of the left optic nerve low signal on T1 and high signal on T2 with contrast enhancement.

Diagnosis: Optic Nerve Glioma In NF 1

 

Optic nerve gliomas represent approximately 4 % of all orbital tumors, 2 % of all intracranial tumors and 4 % of all gliomas.

 

Optic nerve gliomas outnumber Meningiomas 3 or 4  to 1.

 

The peak incidence is from 2 to 8 years of age with 75% manifesting in the first decade and 90% in the first two decade of life.

 

Spontaneous regression of an optic nerve glioma in patients with Neurofirbromatosis has been reported.

There is high association of up to 50% with Neurofibromatosis -1.

 

Calcifications are rare but may occur following radiation therapy, rarely tumors may extend into sphenoid sinus.

 

Enlargement of the optic canal is seen in more than 50% of cases.

 

Optic pathway gliomas are generally low-grade astrocytic tumors(pilocytic or fibrillary) that can involve the visual pathways spanning anywhere from the optic nerve to the visual cortex.

 

The NIH divide neurofibromatosis into :

Type 1 Von Recklinghausen syndrome, peripheral neurofibromatosis-Chromosome 17.

Autosomal dominant

Type 2- Acoustic neurofibromatosis or central neurofibromatosis. Chromosome 22 

Loss of tumor suppresor function of neurofibromin leads to proliferation of neural tumors.

 

  Neurofibromatosis 1
Diagnostic Criteria
 

 Six or more café au lait spots

 2 pigmented iris hamartomas ( Lish nodules) 

Axillary, inguinal freckling 

2 neurofibromas ( or 1 plexiform NF)

 Optic nerve glioma 1st degree relative with NF1

Characteristic bone lesion (dysplastic greater   sphenoid wing, pseudoarthrosis, cortical thinning in long bones or other distinctive osseous lesion)

 

Neurofibromatosis Type 2:

MISSME

M-Multiple

I-Intracranial,Inherited

S-Schwannomas

M-Meningiomas

E_Ependymomas

 

 Diagnostic Criteria for Type 2:

Bilateral vestibular schwannomas

First degree relative with NF2 and 1 vestibular schwannoma

First degree relative with NF2 and 2 of the following:

        Neurofibroma

        Meningioma

        Glioma

        Schwannoma

          Posterior subcapsular lenticular    

          Opacity

 

Take Home Message:

 Etiology for Hypertension in NF

Renal artery stenosis at its origin

Pheochromocytoma

Mid Aortic syndrome


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    Disclaimer: This information is intended solely for resident review of presented cases which may or may not be pathologically proven. Information is derived from a number of published sources of varying reliability and does not represent original research from the institution. It is not intended to be comprehensive and should therefore not substitute for careful review of the literature.