Teaching Neuro Images : Honeycomb appearance of the brain in a patient with Canavan disease

Abstract

A 1-year-old girl presented with global developmental delay and generalized tonic seizures for 5 months. She was born of a nonconsanguineous marriage at full term but required resuscitation for 15 minutes during the postdelivery period. Her head circumference was 47 cm (90th percentile). The ocular fundi were normal. She was spastic bilaterally with hyperreflexia and extensor plantar responses. The white matter changes on brain MRI 1 (figure 1) and high N-acetylaspartate (NAA) peak on brain magnetic resonance spectroscopy (figure 2) and urine NMR 2 suggested Canavan disease, an autosomal recessive dysmyelinating disease due to deficiency of the enzyme aspartoacylase that catalyzes breakdown of NAA. Its deficiency results in high NAA levels in serum and urine. The honeycomb appearance of the white matter may be due to leukodystrophy or, possibly, to an additional postnatal ischemic event. Multiple round or oval cystic changes within the white matter give a honeycomb appearance. The radial arrangement of these cystic spaces suggests dilatation of Virchow-Robin spaces due to spongiform degeneration of the white matter.

Canavan disease, a rare early-onset human spongiform leukodystrophy: Insights into its genesis and possible clinical interventions

“…The presence of such a high concentration of NAA in large fluidfilled vacuoles in a case of CD has recently been measured for the first time using proton MRS [49]. In this case study, the lack of cells in these NAA-containing vacuoles is noted by the presence of only trace amounts of other substances that are normally present in high concentrations in cells.…”

“…d No ASPA activity due to absence of its substrate NAA [57]. e Evidence of high concentrations of NAA in ECF in CD [49]. f NA, Not available.…”

A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists?

“…Other studies analyse the prevalent theories of what causes the demyelinisation in Canavan Disease patients through such efforts as enhanced imaging techniques (Caliebe et al . 2010; Pradhan and Goyal 2011) or theoretical biochemical means (e.g. Baslow & Guilfoyle 2009).…”

“…Specifically, studies of aspartoacylase and its role in Canavan Disease emphasise the structure (Bitto et al 2007;Hershfeld et al 2007;Moffet et al 2007;Mersmann et al 2011), character (Le Coq et al 2006Le Coq et al 2008;Traka et al 2008;Kumar et al 2009;Surendran 2009;Moffett et al 2011;Surendran & Bhatnagar 2011), and mutations (Kumar et al 2006) of aspartoacylase, as well as its presence in other organs besides the brain (Hershfield et al 2006). Other studies analyse the prevalent theories of what causes the demyelinisation in Canavan Disease patients through such efforts as enhanced imaging techniques (Caliebe et al 2010;Pradhan and Goyal 2011) or theoretical biochemical means (e.g. Baslow & Guilfoyle 2009).…”

Gene Therapy for the Treatment of Neurological Disorders: Metabolic Disorders

“…On the ultrastructural level, swollen astrocytic mitochondria are present as well as disruption of the myelin sheath order [119]. On MRI (magnet resonance imaging) T2 sequences, hyperintensity of mainly the white matter is characteristic, not only for leukodystrophy in general, but for Canavan disease as well [122, 123]. This hyperintensity is due to water accumulation within the subcortical areas.…”