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. 2014 Jun 21;17(3):215-7.
doi: 10.1007/s40477-014-0108-3. eCollection 2014 Sep.

Brain ultrasound in Canavan disease

B Drera  1 , C Poggiani  2
Affiliations

Brain ultrasound in Canavan disease

B Drera et al. J Ultrasound. .

Abstract
in English, German

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.

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.

Keywords: Aspartoacylase deficiency; Brain ultrasound; Canavan syndrome; Cranial ultrasound; Leukodystrophy; Neonatal hypotonia.

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Figures

Fig. 1
Fig. 1
Sonographic findings of the patient at birth. Sector transducer. Coronal (a) and lateral (b, c) view. Note increased echogenicity of the white matter, thalamus and caudate
Fig. 2
Fig. 2
Sonographic findings of the patient at 4 months of age. Sector transducer. Note a white matter hyperechogenicity characterized by a homogenous fine texture and an intense signal of pial demarcation as a marginal line. Mild ventricular dilatation and enlargement of sinocortical space were also present
See this image and copyright information in PMC

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