Alexander's disease: Cranial MRI and ultrasound findings

Abstract

Cranial ultrasound (US) findings and magnetic resonance imaging (MRI) are presented in an infant with Alexander's disease. Both methods may help the clinician with the early diagnosis of this rare disease.

Defining and Categorizing Leukoencephalopathies of Unknown Origin: MR Imaging Approach

“…In two-thirds of the cases, the abnormal white matter had a slightly swollen appearance. The distribution and appearance of white matter abnormalities were compatible with the diagnosis of Alexander disease (22)(23)(24)(25)(26). Generally, the demonstration of Rosenthal fibers in brain tissue is considered a prerequisite to a definitive diagnosis.…”

“…In addition to the white matter changes, all patients had basal nuclei abnormalities, which were either changes in signal intensity and some swelling (Fig 4) or marked atrophy (Fig 5). To our knowledge, the involvement of the basal nuclei in Alexander disease is not described in the MR imaging literature (22)(23)(24)(25)(26), but from histopathologic analysis, it is known that the basal nuclei contain a relatively high volume of Rosenthal fibers (27)(28)(29). It is also known that in Alexander disease, the course of the white matter abnormalities is characterized by an increase in volume followed by cystic degeneration and a loss of volume (29,30).…”

“…A striking observation in the patients was the high frequency of abnormalities involving the medulla oblongata. Prominent involvement of the brainstem, particularly the medulla oblongata, is known from histopathologic analysis (27,29,30), but it is not described with Alexander disease in the imaging literature (22)(23)(24)(25)(26).…”

Alexander's disease in a neurologically normal child: a case report

“…Four of five criteria must be met for MRIbased diagnosis [9]. Valk et al suggested that MRI criteria for AD include spread of disease from frontal lobes in a rostrocaudal direction, preserved occipital lobes and genu of corpus callosum, involvement of arcuate fibers, and lack of involvement of the cerebellum and brain stem [10,11]. The predominant involvement of the frontal white matter on MRI and the macrocephaly are findings that have been noted in all infants and children diagnosed with AD [6,8,9,10,11,12].…”

Novel Mutations in Exon 6 of the GFAP Gene Affect a Highly Conserved IF Motif in the Rod Domain 2B and are Associated with Early Onset Infantile Alexander Disease

“…Since it was fi rst described in 1949 [1] , the diagnosis has been based on histopathological fi ndings in autopsy or brain biopsy, especially the demonstration of Rosenthal fi bres [9] . Typical fi ndings in cerebral imaging include leukencephalopathy with frontal predominance and degenerative changes of the basal ganglia [2,11,22,26] . Magnetic resonance criteria for the diagnosis of Alexander disease have been established [25] .…”