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Flashcards in Diseases Deck (13):
1

Wilson's Disease

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

2

Tauopathy

Alzheimer's Disease

3

Synucleinopathy

Parkinson's Disease

4

Klinefelter's syndrome

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

5

Fragile X syndrome

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

6

47 XXY

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7

Waterhouse-Friderichsen syndrome

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

8

Friedreich ataxia

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%)

9

Tay-Sachs

Ganglioside accumulation due to Hexosaminidase deficiency
-Progressive neurodegeneration
-Cherry red spot in macula

10

Von Hippel-Lindau disease

VHL (tumor suppressor) deletion (chromosome 3p)
-Clear cell renal carcinoma
-Cerebellar hemangioblastomas
-Pheochromocytomas

11

Von Hippel-Lindau disease

VHL (tumor suppressor) deletion (chromosome 3p)
-Clear cell renal carcinoma
-Cerebellar hemangioblastomas
-Pheochromocytomas

12

Treacher Collins syndrome

1st pharyngeal arch neural crest fails to migrate
-Mandibular hypoplasia

13

MEN 2A syndrome

RET mutation (neural crest cells)
-Pheochromocytoma
-Parathyroid tumor
-Parafollicular (c cell) Medullary thyroid cancer