Bührer C, Bassir C, von Moers A, Sperner J, Michael T, Scheffner D, Kaufmann H J
Kinderklinik KAVH, Universitätsklinikum Rudolf Virchow, Berlin Free University, Germany.
Pediatr Radiol. 1993;23(5):395-7. doi: 10.1007/BF02011970.
Canavan disease (CD) is a rare leukodystrophy which is lethal in infancy or early childhood. The underlying biochemical abnormality in CD is a hereditary deficiency of N-aspartoacylase transmitted in an autosomal recessive fashion. We report on the ultrasound (US), CT, and MRI findings of three unrelated boys with biochemically confirmed CD. At 6 and 9 months of age, two CD patients with rapid neurological deterioration showed markedly enhanced acoustic attenuation of the white matter with the exception of the corpus callosum, giving the appearance of a reversed pattern of echogenicity of cortical gray and subcortical white matter. While gyri and sulci had an almost normal US appearance, the periventricular gray matter featured prominently with increased echogenicity. In contrast another CD patient with a more protracted course had ventricular enlargement when examined by US at 5 and 9 months but no alteration in white matter echogenicity. MRI showed impaired myelinization in all three patients with Canavan disease.
卡纳万病（CD）是一种罕见的脑白质营养不良症，在婴儿期或幼儿期具有致死性。CD潜在的生化异常是N-天冬氨酸酰基转移酶的遗传性缺乏，以常染色体隐性方式遗传。我们报告了3例经生化确诊为CD的不相关男孩的超声（US）、CT和MRI检查结果。在6个月和9个月大时，2例神经功能迅速恶化的CD患者，除胼胝体外，白质的声学衰减明显增强，呈现出皮质灰质和皮质下白质回声性相反的模式。虽然脑回和脑沟的超声表现几乎正常，但脑室周围灰质回声增强明显。相比之下，另1例病程较长的CD患者在5个月和9个月接受超声检查时出现脑室扩大，但白质回声无改变。MRI显示，所有3例卡纳万病患者均存在髓鞘形成受损。
