A 4 year old boy presents with a 2 year history of idiopathic seizures treated with anti-convulsants. The current clinical examination shows a mentally retarded kid with multiple white spots on the skin and warty nodules on the nose and forehead. The ophthalmoscopic examination reveals nodular prominences in the retina.

An MRI shows intracranial calcifications and warty swellings which distort the temporal gyri. The images below are from other patients with the same diagnosis.

1-Mutations on the following chromosomes have been identified in this process:

A-9q34

B-16p13.3

C-17q11.2

D-A and C are correct

E-A and B are correct

 

2-Patients with this entity may develop a unique tumor called:

A-Glioblastoma multiforme

B-Subependymal giant cell astrocytoma

C-Hemangioblastoma

D-Neurofibroma

E-All of the above

 

3-The classical location of the above tumor is:

A-Frontal lobe

B-Cerebellar lobe

C-Beneath the ventricular surface

D-Skin

E-None of the above

 

4-The term tubers refers to:

A-Thickened gyri

B-Multiple intraparenchymal cysts

C-Firm masses attached to the meninges

D-Patches of discoloration of the white matter

E-None of the above

 

5-This disease is:

A-X-linked

B-Autosomal recesive

C-Autosomal dominant

D-None of the above

 

6-This syndrome is characterized by:

A-Hamartomas and malignant tumors

B-Hamartomas and benign tumors

C-Only hamartomas

D-Hamartomas and either benign or malignant tumors

E-None of the above

 

7-This disease is associated with:

A-Angiomyolipoma

B-Cardiac myoma

C-Retinal hamartomas

D-Angiofibromas

E-All of the above