Paeds neuro

Question 1

1. Normal Head Size
   - SYMM WM dx #metabolic
   - Parieto-occipital Predominance
   - Extends across the Splenium
   — Restrict + rim of CE

Sex-linked recessive ({{c1::peroxisomal}} enzyme deficiency)
- Male Predominant

Answer 1

1. Adreno Leukodystrophy (ALD)
   “X-Linked”

Question 2

2. Central + Peripheral demyelination = ataxia + dementia

Normal Head Size
- Frontal Predominance
- PeriVENTRICular + Deep WM Tigroid Pattern
(stripes of milder disease).

• Most common Leukodystrophy
• U-fibers = relatively spared

MR SPECT study reveals a normal NAA peak

Answer 2

2. Metachromatic

Question 3

3. Normal sized hed
   - Typically diffuse “total lack of normal myelination”
   - with extension to the subcortical U fibers.

Patchy variant = described as “tigroid”
- although that term is more classic for?

NOOO enhancement. NOOO restricted diffusion.

Answer 3

3. Pelizaeus-Merzbacher

Patchy variant = described as “tigroid”
- although that term is more classic for Metachromatic

Question 4

Weird Big Head
- Frontal Predominance + cerebellum + MIDDLE cerebellar peduncles
- Can CE

Answer 4

Alexander dx

Question 5

Weird Big Head
- Diffuse Bilateral subcortical U fibers
- Subcortical Predominance

Spectroscopy = high NAA

Answer 5

Canavan disease

Question 6

Peripheral neuropathy,
Developmental delay
Optic atrophy,
Globoid cells

Small Head
- Centrum semiovale + periventricular WM
- parieto-occipital predominance

High density foci on CT (thalamus, caudate, deep WM)

Early SPARING of subcortical U fibers

Answer 6

Krabbe dx