A 27 year old male presents with headaches and vomiting. Phsical exam reveals nystagmus, bilateral papilledema, and ataxic gait Laboratory studies reveal a hemoglobin of 19gm/l and hematocrit of 57%. An MRI is obtained of the head revealing a low density cystic midline cerebellar mass. A biopsy is obtained from the cerebellar mass, revealing the following:
1-The gene responsible for this disease is located on the following chromosome:
A-17p11.2
B-3p25-26
C-9q22
D-11p22
E-None of the above
ANSWER: B
2-The vascular lesions are typically located in :
A-Cerebellar lobes
B-Retina
C-Lung
D-A and B are true
E-A and C are true
ANSWER: D
3-These patients have a strong propensity for developing tumors of these organs:
A-Retina
B-Kidney
C-Cerebellum
D-Pancreas
E-All of the above
ANSWER: E
4-This syndrome is associated with:
A-Renal cell carcinoma
B-Cysts of liver, pancreas and kidney
C-Increased levels of erytropoietin
D-Hemangioblastomas
E-All of the above
ANSWER: E
5-The pattern of inheritance of this disease is:
A-X-linked
B-Autosomal recessive
C-Autosomal dominant
D-None of the above
ANSWER: C
6. Based on this presentation, the most likely diagnosis of this patient is:
ANSWER: C