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Table 1 Canavan disease patients reported with cytotoxic edema

From: Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature

Reference

Gender

Age (months)

Seizures

Delay

Hypotonia

Spasticity

Macrocephaly

Affected brain structures

Abnormal DWI brain structures

a

m

17

na

na

na

na

na

sc

sc

b

m

15

+

+

–

+

+

bs, cer, p, t, gp

bs, cer, p, t, gp

c

m

72

na

na

na

na

na

sc, cc

sc, cc

c

m

12

na

na

na

na

na

sc, ppv

sc

d

m

11

+

+

–

–

+

sc, bs

sc, bs

e

m

10

–

+

+

–

+

sc, gp, t

sc, gp, t

f

na

17

+

+

–

+

–

sc, gp, t, cer

sc, gp, t, cer

f

na

171

–

+

–

+

microcephaly

sc

sc

g

m

0.8

na

na

na

na

+

sc, bs, t, cer, bg

sc, bs, t, bg

h

m

7

na

na

na

na

na

sc

sc

i

f

84

–

+

–

–

–

bg, sc

bg, sc

j

m

4

+

–

–

–

–

bg, sc

bg, sc

k

m

2

–

–

–

–

–

bs, sc, intcap

bs, sc, intcap

  1. References: a, Engelbrecht V, Scherer A, Rassek M et al. Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with white matter diseases. Radiology. 2002;222(2):410–8; b, [6]; c, Patay Z. Diffusion-weighted MR imaging in leukodystrophies. Eur Radiol. 2005;15(11):2284–303; d, Srikanth SG, Chandrashekar HS, Nagarajan K et al. Restricted diffusion in Canavan disease. Childs Nerv Syst. 2007;23(4):465–8.; e, Unalp A, Altiok E, Uran N et al. Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease. J Trop Pediatr. 2008;54(3):208–10.; f, Cakmakci H, Pekcevik Y, Yis U et al. Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature. Eur J Radiol. 2010;74(3):e161-71; g, Rodrigues K, Grant PE. Diffusion-weighted imaging in neonates. Neuroimaging Clin N Am. 2011;21(1):127–51, viii; h, Perlman SJ, Mar S. Leukodystrophies. Adv Exp Med Biol. 2012;724:154–71; i, Nguyen HV, Ishak GE. Canavan disease – unusual imaging features in a child with mild clinical presentation. Pediatr Radiol. 2014;45:457–60.; j, [9]; k, this report
  2. Abbreviations: m male, f female, na not available, intcap internal capsule, bs brain stem, cc corpus callosum, bg basal ganglia, cer cerebellum, p pons, t thalamus, gp globus pallidus, ppv parietal periventricular, sc subcortical white matter