Diseases

Question 1

Wilson’s Disease

Answer 1

• Copper accumulation in tissue
• Autosomal recessive mutation
• Liver disease, Brain disease (parkinsonism, cognitive deterioration), Copper rings in cornea

Question 2

Tauopathy

Answer 2

Alzheimer’s Disease

Question 3

Synucleinopathy

Answer 3

Parkinson’s Disease

Question 4

Klinefelter’s syndrome

Answer 4

XXY
Mild retardation
Tall male with gynecomastia, small testes, infertility

Question 5

Fragile X syndrome

Answer 5

1. Mild mental retardation
2. Long face, prominent jaw, large ears, cleft palate
3. Macroorchidism
4. Mitral valve prolapse
5. Short height, double jointed

Question 6

47 XXY

Question 7

Waterhouse-Friderichsen syndrome

Answer 7

N. Meningitidis sepsis with DIC & hemorrhagic destruction of Adrenal Glands

Question 8

Friedreich ataxia

Answer 8

Autosomal recessive
Degeneration of dorsal colums, spinocerebellar tracts, Dorsal root ganglia sensory cells
Symptoms: 1. Ataxia, 2. Hypertrophic cardiomyopathy, 3. Kyphoscoliosis and pes cavus, 4. Diabetes (10%)

Question 9

Tay-Sachs

Answer 9

Ganglioside accumulation due to Hexosaminidase deficiency

• Progressive neurodegeneration
• Cherry red spot in macula

Question 10

Von Hippel-Lindau disease

Answer 10

VHL (tumor suppressor) deletion (chromosome 3p)

• Clear cell renal carcinoma
• Cerebellar hemangioblastomas
• Pheochromocytomas

Question 11

Von Hippel-Lindau disease

Answer 11

VHL (tumor suppressor) deletion (chromosome 3p)

• Clear cell renal carcinoma
• Cerebellar hemangioblastomas
• Pheochromocytomas

Question 12

Treacher Collins syndrome

Answer 12

1st pharyngeal arch neural crest fails to migrate

-Mandibular hypoplasia

Question 13

MEN 2A syndrome

Answer 13

RET mutation (neural crest cells)

• Pheochromocytoma
• Parathyroid tumor
• Parafollicular (c cell) Medullary thyroid cancer