DDx

Question 1

Kinky Hair

Answer 1

1. Menke’s Disease
2. Giant Cell Axonopathy
3. Arrginosuccinate lyas deficiency (Urea cycle)

Question 2

Retinitis Pigmentosa

Answer 2

1. Peroxisomal
   
   1. refsum’s
   2. Zellweger’s
   3. ALD
2. Mitochondrial
   
   1. NARP
   2. KSS
3. PKAN
4. Cokayne
5. FA
6. Abetalipoproteinemia
7. Aicardi
8. NCL
9. MPS
10. Tay Sachs

Question 3

Cherry Red Spot

Answer 3

1. Storage disorders
   
   1. Tay Sachs
   2. Neimann-Pick
   3. Sandhoff
   4. GM1 gangliocidosis
   5. Sandifers
   6. Farber
   7. Hurler’s
   8. NCL
2. MLD, Krabbe
3. Sialidosis
4. Vascular
   
   1. CRAO
5. Drugs
   
   1. Dapsone
   2. Quinine
   3. CO
   4. Methanol

Question 4

Corneal Clouding

Answer 4

1. MPS except Type 2
2. Mucolipidosis
3. GM1

Question 5

Optic Atrophy

Answer 5

PICKLE

1. Papilledema
2. Infantile neuroaxonal dystrophy
3. Cokayne syndrome
4. Krabbe, MLD, GM2, MPS
5. Lebers ON
6. NCL
   7.

Question 6

Cataract

Answer 6

1. Galactosemia
2. Rubella
3. Down Syndrome
4. Mitochondrial disorders
5. NF2
6. Wilson’s
7. MD
8. Fabry’s
9. Peroxisomal
10. CTX

Question 7

Hepatosplenomegaly

Answer 7

1. MPS
2. Mucolipidosis
3. GM1 and 2
4. Neimann Pick
5. Gaucher
6. Zellweger
7. Pompei
8. Congenital disorders of glycosylation
9. Wilson Disease

Question 8

Eczema

Answer 8

Biotinidase and PKU

Question 9

Excessive Fat Pads

Answer 9

1. CDG

Question 10

Photosensitivity

Answer 10

1. Cockayne syndrome
2. Hereditary tyrosinemia
3. porphyria

Question 11

Blonde hair

Answer 11

PKU

Question 12

Fever related worsening

Answer 12

• mitochondrial disorders
• aminoacidopathies
• GA type 1
• Biotinidase/multiple carboxylase deficiency
• Dravet Syndrome
• GLUT1

Question 13

Fever as part of disease

Answer 13

• Krabbe
• Aicardi Syndrome

Question 14

Temporal Lobe Cysts

Answer 14

• MLC
• AGS
• CMV
• Sulfite oxidase

Question 15

Non-accidental Injury like presentation

Answer 15

• GA-type 1
• Menkes
• Cobalamin
• Homocystinuria

Question 16

Peripheral Neuropathy

Answer 16

1. MLD
2. Krabbe
3. Mitochondrial
4. INAD

Question 17

Dysostosis Multiplex

Answer 17

MPS

Question 18

Epiphysial Stippling

Answer 18

Peroxisomal disorders

Question 19

Ocular manifestations of lysosomal Storage Disorders

Answer 19

1. Cherry red spot
2. corneal clouding
3. corneal whorling or opacities
4. cystine crystal deposit
5. lens opacities
6. Retinitis pogmentosis/retinal dystrophy
7. Strabismus

Question 20

Metabolic causes of progressive ataxia (large list)

Answer 20

1. Juvenile GM2 gangliosidosis - Tay Sachs and Sandhoff
2. Refsum
3. Wilsons
4. Ataxia with vit E deficiency (AR) - mutations in alpha tocopherol transfer protein gene
5. Abetalipproteinemia
   
   1. AR inherited
   2. mutation in Microsomal Triglyceride transfer protein (MTTP)
   3. Malabsorption syndrome clinically and hepatic cirrhosis is rare
   4. pigmentary retinopathy
   5. acanthocytosis
   6. ATAXIA
   7. CHOREA
   8. OPHTHALMOPLEGIA
   9. spasticity if long-term
   10. cholesterol is low and Triglycerides are not detectable (absent LDL, VLD)
6. CTX
   
   1. AR
   2. progressive ataxia
   3. block in Bile Acid Synthesis
   4. 1st sign is diarrhea in infancy

Question 21

Skin Abnormalities

• cafe au lait (4)
• depigmented nevi (1)
• eczema (1)
• Mlar flush (1)
• photosensitivity (2)
• Rask (2)
• Synophrys (2)

Answer 21

Question 22

Hearing Abnormalities

Answer 22

Question 23

X-linked IEM

Answer 23

• Plezius-Merzbacher Diseases (PLP1)
• X-ALD (ABCD1)
• Fabry’s disease (alpha-galactosidase)
• Hunter (MPS-2)
• PDH
• OTC
• Creatine transport defect ( SLC6A8)
• Duchenne MD
• Aicardi
• IP
• RET
• Fragile X
• DCX
• FLNA