Brain ultrasound in Canavan disease

Abstract

Canavan disease (MIM 271900) is a rare autosomal recessive leukodystrophy due to mutations in the ASPA gene (MIM 608034) and characterized by a clinical onset at 3-5 months of life, macrocephaly and poor head control, weak cry and suck, development regression and hypotonia. Here, we report cranial ultrasound findings at birth and at 4 months of age in a patient affected with Canavan disease. The comparison of our sonographic data with few other cases in literature allows us to suggest a characteristic pattern in Canavan disease.Keywords Cranial ultrasound Á Brain ultrasound Á Canavan syndrome Á Aspartoacylase deficiency Á Neonatal hypotonia Á Leukodystrophy Riassunto La malattia di Canavan (MIM 271900), dovuta a mutazioni nel gene ASPA (MIM 608034), è una rara leucodistrofia a trasmissione autosomica recessiva. E' caratterizzata dalla presenza di macrocefalia e scarso controllo del capo, pianto flebile, suzione poco valida, ipotonia e regressione neuromotoria. In questo lavoro riportiamo la descrizione dell'ecografia cerebrale in un paziente affetto dalla malattia di Canavan eseguita alla nascita e all'età di 4 mesi di vita. Dal raffronto con i dati precedentemente riportanti in letteratura possiamo suggerire la presenza di un quadro ecografico a livello cerebrale caratteristico nella malattia di Canavan.

Canavan’s spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature

“…Nevertheless, US will be applied as first line imaging method in macrocephaly. US features of leukodystrophies are described in few articles about Aicardi-Goutières syndrome (leukodystrophy with calcifications) [23] or even Canavan [10][11][12][13] and Alexander's disease (fibrinoid leukodystrophy) [24], both leukodystrophies with megalencephaly. The hall mark of in US imaging findings in leucodystrophies is white matter hyperechogenicity.…”

“…Diagnostic criteria are diffuse leukodystrophy and diffusion restriction in neuroimaging studies [8], elevated acetylaspartic acid in the CSF and urine [2] as well as a NAA peak in MR spectroscopy [9] Concerning ultrasound (US) diagnosis of CD there are only few case reports in the literature from 1986 to 2014 which report white matter hyperechogenicity [10][11][12][13] as well as changes of cerebral surface [11].…”

“…Concerning ultrasound (US) diagnosis of CD there are only few case reports in the literature from 1986 to 2014 which report white matter hyperechogenicity [ 10 – 13 ] as well as changes of cerebral surface [ 11 ].…”