Abstract:Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare neurodegenerative disorder characterized by cerebral white matter abnormalities, myelin loss, and axonal swellings. ALSP is caused by mutations in colony stimulating factor 1 receptor gene. We report an ASLP patient with asymptomatic intracranial calcifications distributed in white matter found incidentally in a health screening.
“…The subsequent noncontrast enhanced CT (NECT) study ( Fig. 3 ; with 1mm thick sagittal reconstructions) detected tiny specks of calcification in the corpus callosum, adjacent to the frontal horns of the lateral ventricles, confirming the radiological diagnosis of ALSP [9 , 10 , 14 , 16] . Fig.…”
Section: Case Reportmentioning
confidence: 76%
“…4 ) performed 19 months after the first presentation. It showed marked global involutional changes, confluent white matter hypodensity and appearance of coarse calcific specks in the left corona radiata, again a well-described imaging feature of ALSP [14 , 16] . Fig.…”
Section: Case Reportmentioning
confidence: 78%
“…These calcifications may occur in a symmetric “stepping stone” pattern in the pericallosal regions (adjacent to the frontal horns of the lateral ventricles) or scattered in the frontal and parietal white matter. ALSP does not show calcifications in the basal ganglia, thalamus or cerebellum which helps to differentiate it from other metabolic and genetic conditions [4 , 9 , 10 , 13 , 14 , 16] . MR spectroscopy studies have shown decreased N-acetylaspartate and increased choline and myoinositol in involved regions, however, these are nonspecific findings [4 , 7 , 17] .…”
Section: Discussionmentioning
confidence: 93%
“…We performed an extensive review of literature to highlight the characteristic imaging features of ALSP [1] , [2] , [3] , [4] , [5] , [6] , [7] , [8] , [9] , [10] , [12] , [13] , [14] , [15] , [16] , [17] . Bilateral T2/FLAIR hyperintensities in the periventricular and deep white matter of the frontal and parietal lobes are the hallmarks of ALSP on MRI.…”
Section: Discussionmentioning
confidence: 99%
“…Absence of anterior temporal and external capsule involvement ruled out cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [ 4 , 9 , 11 ]. The striking areas of restricted diffusion in the deep white matter, corpus callosum and right corticospinal tract raised suspicion for ALSP [3 , [6] , [7] , [8] , [9] , [10] , [12] , [13] , [14] , [15] , [16] , [17] . The subsequent noncontrast enhanced CT (NECT) study ( Fig.…”
Adult-onset diffuse leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare progressive degenerative white matter disease caused by mutations in the colony-stimulating factor-1 receptor gene. Patients commonly present in the 4th or 5th decade with variable clinical presentations including behavioral changes, dementia, parkinsonism, and motor dysfunctions, eventually leading to death within a few years. Although the disease is typically hereditary, sporadic cases are known to occur. The classic MRI features of ALSP include T2 hyperintensities in the frontal and parietal white matter, scattered foci of restricted diffusion in the white matter, age-advanced cerebral involutional changes, thinning and signal changes in the corpus callosum, absence of infratentorial involvement and lack of enhancement. CT commonly shows tiny calcifications in the corpus callosum and deep white matter.
We report a unique case of sporadic ALSP that initially presented as young stroke with acute onset of left-sided hemiparesis and no preceding history of cognitive decline. However, subsequent cognitive and behavioral changes lead to the consideration of an alternative diagnosis. Stroke-like symptoms is a very rare primary presentation of this disease entity. We have highlighted the classic MRI and CT features that helped to guide its diagnosis in our patient and prompted early corroborative genetic testing.
“…The subsequent noncontrast enhanced CT (NECT) study ( Fig. 3 ; with 1mm thick sagittal reconstructions) detected tiny specks of calcification in the corpus callosum, adjacent to the frontal horns of the lateral ventricles, confirming the radiological diagnosis of ALSP [9 , 10 , 14 , 16] . Fig.…”
Section: Case Reportmentioning
confidence: 76%
“…4 ) performed 19 months after the first presentation. It showed marked global involutional changes, confluent white matter hypodensity and appearance of coarse calcific specks in the left corona radiata, again a well-described imaging feature of ALSP [14 , 16] . Fig.…”
Section: Case Reportmentioning
confidence: 78%
“…These calcifications may occur in a symmetric “stepping stone” pattern in the pericallosal regions (adjacent to the frontal horns of the lateral ventricles) or scattered in the frontal and parietal white matter. ALSP does not show calcifications in the basal ganglia, thalamus or cerebellum which helps to differentiate it from other metabolic and genetic conditions [4 , 9 , 10 , 13 , 14 , 16] . MR spectroscopy studies have shown decreased N-acetylaspartate and increased choline and myoinositol in involved regions, however, these are nonspecific findings [4 , 7 , 17] .…”
Section: Discussionmentioning
confidence: 93%
“…We performed an extensive review of literature to highlight the characteristic imaging features of ALSP [1] , [2] , [3] , [4] , [5] , [6] , [7] , [8] , [9] , [10] , [12] , [13] , [14] , [15] , [16] , [17] . Bilateral T2/FLAIR hyperintensities in the periventricular and deep white matter of the frontal and parietal lobes are the hallmarks of ALSP on MRI.…”
Section: Discussionmentioning
confidence: 99%
“…Absence of anterior temporal and external capsule involvement ruled out cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [ 4 , 9 , 11 ]. The striking areas of restricted diffusion in the deep white matter, corpus callosum and right corticospinal tract raised suspicion for ALSP [3 , [6] , [7] , [8] , [9] , [10] , [12] , [13] , [14] , [15] , [16] , [17] . The subsequent noncontrast enhanced CT (NECT) study ( Fig.…”
Adult-onset diffuse leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare progressive degenerative white matter disease caused by mutations in the colony-stimulating factor-1 receptor gene. Patients commonly present in the 4th or 5th decade with variable clinical presentations including behavioral changes, dementia, parkinsonism, and motor dysfunctions, eventually leading to death within a few years. Although the disease is typically hereditary, sporadic cases are known to occur. The classic MRI features of ALSP include T2 hyperintensities in the frontal and parietal white matter, scattered foci of restricted diffusion in the white matter, age-advanced cerebral involutional changes, thinning and signal changes in the corpus callosum, absence of infratentorial involvement and lack of enhancement. CT commonly shows tiny calcifications in the corpus callosum and deep white matter.
We report a unique case of sporadic ALSP that initially presented as young stroke with acute onset of left-sided hemiparesis and no preceding history of cognitive decline. However, subsequent cognitive and behavioral changes lead to the consideration of an alternative diagnosis. Stroke-like symptoms is a very rare primary presentation of this disease entity. We have highlighted the classic MRI and CT features that helped to guide its diagnosis in our patient and prompted early corroborative genetic testing.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
