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Pediatrics > DDx > Flashcards

DDx Flashcards

1
Q

Kinky Hair

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

Retinitis Pigmentosa

A
  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
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3
Q

Cherry Red Spot

A
  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
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4
Q

Corneal Clouding

A
  1. MPS except Type 2
  2. Mucolipidosis
  3. GM1
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5
Q

Optic Atrophy

A

PICKLE

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

Cataract

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

Hepatosplenomegaly

A
  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
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8
Q

Eczema

A

Biotinidase and PKU

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9
Q

Excessive Fat Pads

A
  1. CDG
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10
Q

Photosensitivity

A
  1. Cockayne syndrome
  2. Hereditary tyrosinemia
  3. porphyria
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11
Q

Blonde hair

A

PKU

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12
Q

Fever related worsening

A
  • mitochondrial disorders
  • aminoacidopathies
  • GA type 1
  • Biotinidase/multiple carboxylase deficiency
  • Dravet Syndrome
  • GLUT1
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13
Q

Fever as part of disease

A
  • Krabbe
  • Aicardi Syndrome
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14
Q

Temporal Lobe Cysts

A
  • MLC
  • AGS
  • CMV
  • Sulfite oxidase
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15
Q

Non-accidental Injury like presentation

A
  • GA-type 1
  • Menkes
  • Cobalamin
  • Homocystinuria
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16
Q

Peripheral Neuropathy

A
  1. MLD
  2. Krabbe
  3. Mitochondrial
  4. INAD
17
Q

Dysostosis Multiplex

A

MPS

18
Q

Epiphysial Stippling

A

Peroxisomal disorders

19
Q

Ocular manifestations of lysosomal Storage Disorders

A
  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
20
Q

Metabolic causes of progressive ataxia (large list)

A
  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
21
Q

Skin Abnormalities

  • cafe au lait (4)
  • depigmented nevi (1)
  • eczema (1)
  • Mlar flush (1)
  • photosensitivity (2)
  • Rask (2)
  • Synophrys (2)
A
22
Q

Hearing Abnormalities

A
23
Q

X-linked IEM

A
  • 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

Pediatrics (2 decks)

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