Rare Diseases

Question 1

tuberous sclerosis.

Answer 1

• autosomal dominant condition characterized by cortical tubers and subependymal hamartomas in the brain, with consequent seizures and cognitive disability.
• Cardiac rhabdomyomas, facial angiofibromas, and leaf-shaped patches of skin lacking pigment (ash-leaf patches) can also occur.
• Renal angiomyolipoma is a benign tumor composed of blood vessels (angio), smooth muscle (myo), and fat (lipoma) - diagnosed with an abdominal CT scan as the radiodensity of fat is less than that of water.
• In patients with bilateral renal angiomyolipomas, the incidence of tuberous sclerosis is 80%-90%.

Question 2

Neurofibromatosis type 2

Answer 2

• autosomal dominant disorder marked by bilateral acoustic neuromas
• These patients may also develop multiple meningiomas, gliomas, and ependymomas of the spinal cord.

Question 3

Sturge-Weber syndrome

Answer 3

rare congenital vascular disorder characterized by a facial port-wine stain and leptomeningeal capillary-venous malformation.

Question 4

von Hippel-Lindau disease,

Answer 4

• Cerebellar hemangioblastomas, retinal hemangiomas, and liver cysts
• autosomal dominant condition
• ## high risk for bilateral renal cell carcinomas.

Question 5

Neurofibromatosis type 1

Answer 5

autosomal dominant disorder
characterized by:
1. neurofibromas (plexiform and solitary)
2. optic gliomas
3. pigmented nodules of the iris (Lisch nodules)
4. cutaneous hyperpigmented macules (café-au-lait spots).-

Question 6

Osler-Weber-Rendu syndrome)

Answer 6

• hereditary hemorrhagic telangiectasia
• develop multiple telangiectasias of the skin and mucosa.
• typical presentation is recurrent epistaxis or gastrointestinal bleeding (melena).

Question 7

α1-antitrypsin deficiency

Answer 7

• progressive dyspnea over the past several years.
• Physical examination shows a prolonged expiratory phase without wheezes or rhonchi. CT scan of the chest demonstrates bilateral lower lobe-predominant emphysema. Further testing reveals that the patient has a protease inhibitor deficiency, which has led to increased elastin fiber breakdown
• Neutrophil-secreted elastase is an endogenous proteolytic enzyme that hydrolyzes elastin within alveolar walls.
• The liver synthesizes α1-antitrypsin, a protein that inhibits neutrophil elastase and prevents alveolar wall degradation, particularly in the lower airways
• develop excessive alveolar elastin degradation which clinically manifests with early onset lower lobe predominant emphysema