"Same, Same, but different"

Question 1

(in-process list)
Common neurologic diseases associated with Ashkanazi Jewish persons (at least for boards)

(5)

Answer 1

1. Neiman-Pick A
2. torsion dystonia (DYT-1)
3. Gauchers
4. Canavan
5. Usher syndrome
6. Familial dysautonomia (Riley-Day syndrome)

Question 2

(in process list)
diseases associated with pigmentary retinopathy

(11)

Answer 2

“MR ACH BUNK”

• (M)ucopolysaccharidoses
• (R)ett
• (A)betalipoproteinemia
• (C)ockayne Syndrome
• (H)allervorden Spats / panthothenic Acid Kinase Deficiency
• (B)ardet-Beidl syndrome
• (U)sher syndrome
• (N)ARP
• (K)earns-Sayer syndrome

Question 3

(in process list)
Inherited Diseases with Cherry-Red Macula
(7)

Answer 3

Inherited

1. Sialidosis
2. Tay-sachs (hexoseaminidase A)
3. Sandhoff disease (Hexoseaminidase A and B)
4. Neimann-Pick disease
5. GM1 gangliosidosis type 1
6. Metachromatic leukodystrophy
7. Galactosialidosis
8. Mucopolysarrharidosis
9. Farber’s
10. Gauchers

1.

Question 4

(in-process list)
causes of acquired cherry red macula (6)

Answer 4

1. Central retinal artery occlusion
2. Toxic
   
   1. Quinine
   2. Carbon monoxide
   3. Dapsone poisioning
   4. Methanol
   5. Intravitreal gentamicin

Question 5

(ongoing list)
Disease which can cause cataracts

Answer 5

Galactosemia

Hurler’s

Lowes

Sialidosis (type 2)

Wilson’s (“sunflower cataracts”)

Incontinentia Pigmenti

Myotonic Dystrophy (type 1 and 2)

Cockayne syndrome

Question 6

X-linked Dominant Disorders

Answer 6

“I need some CAFfeine, get me a DRIP coffee”

• CMT-1X
• AICARDI syndrome
• Fragile X
• DCX (double cortin / subcortical band heterotopia)
• Rett
• Incontinentia Pigmenti
• Pyruvate Dehydrogenase deficiency