MRI features of neurodegenerative Langerhans cell histiocytosis

Abstract

CNS complications of LCH include "space occupying" lesions corresponding to histiocytic granulomas and "neurodegenerative" presentation (ND-LCH) characterized by a progressive cerebellar ataxia. Studies analyzing specifically the MRI presentation of ND-LCH are scarce. We present here the MRIs of 13 patients registered as isolated ND-LCH. Posterior fossa was involved in 12 patients (92%), showing a symmetrical T2 hyperintensity of the cerebellar white matter areas in seven cases with a circumscribed T1 hyperintensity of the dentate nuclei in five cases, definite hyperintense T2 areas in the adjacent pontine tegmentum white matter in nine cases associated with a hyperintensity of the pontine pyramidal tracts in four cases. A cerebellar atrophy was noted in eight cases. The supratentorial region was involved in 11 patients, showing T2 hyperintense lesions in the cerebral white matter in eight cases and a discrete symmetrical T1 hyperintense signal in the globus pallidus in eight patients. A diffuse cortical atrophy was present in three cases and a marked focal atrophy of the corpus callosum in three cases. This series allows us to establish a not previously reported evocative semeiologic MR presentation to precisely orientate to the diagnosis of the pure neurodegenerative form of LCH.

Neurodegenerative central nervous system disease as late sequelae of Langerhans cell histiocytosis. Report from the Japan LCH Study Group

“…18 The usefulness of brain MRI, particularly T2W1 and FLAIR imaging, to detect the strong signals at the cerebellar dentate nuclei, as well as severe cerebellar atrophy, has been well established in the diagnosis of ND-CNS-LCH disease. [7][8][9][10][11][12] In this series, only 5 patients had a chance to be diagnosed early from characteristic brain MRI findings prior to the development of neurological symptoms (Group 1). Since the remaining 6 patients in Group 2 were not examined by MRI in their follow-up until when neurological symptoms were noted, any comparison between these two groups is problematic.…”

“…1 The disease also affects the central nervous system (CNS), where it frequently manifests as diabetes insipidus, and, rarely, as late sequelae involving cerebral, cerebellar/ spinocerebellar or pyramidal cells. These late sequelae CNS diseases, which include cerebellar ataxia and other neurological defects, have previously been observed in case reports or case studies, [2][3][4][5][6][7][8][9][10][11] and are now recognized as neurodegenerative CNS-LCH (ND-CNS-LCH) disease. [7][8][9][10][11] The diagnosis of ND-CNS-LCH disease is made by characteristic brain MRI findings and/or symptoms of cerebral or cerebellar neurologic dysfunction.…”

“…These late sequelae CNS diseases, which include cerebellar ataxia and other neurological defects, have previously been observed in case reports or case studies, [2][3][4][5][6][7][8][9][10][11] and are now recognized as neurodegenerative CNS-LCH (ND-CNS-LCH) disease. [7][8][9][10][11] The diagnosis of ND-CNS-LCH disease is made by characteristic brain MRI findings and/or symptoms of cerebral or cerebellar neurologic dysfunction. [7][8][9][10][11][12] The long-term outcome of ND-CNS-LCH disease is bleak.…”

“…[7][8][9][10][11] The diagnosis of ND-CNS-LCH disease is made by characteristic brain MRI findings and/or symptoms of cerebral or cerebellar neurologic dysfunction. [7][8][9][10][11][12] The long-term outcome of ND-CNS-LCH disease is bleak. However, longitudinal follow-up studies from the initial LCH episodes in such cases have rarely been reported.…”

An Unusual Intracranial Inflammatory Process of Unknown Origin

“…MRI can show bilateral signal changes and non-enhancing lesions in the dentate nucleus, often extending to the surrounding white matter involving the midbrain, pons, globus pallidus and cerebellar peduncle or presenting with cerebellar atrophy. [8][9][10][11][12] There are varying opinions on the indication for HPA biopsy in terms of the size of the lesion or severity of symptoms. 13 Studies by Jian et al 13 , Leger et al 14 and Adani et al 15 all propose different cut-offs for biopsy, such as presence of an endocrinopathy, radiological changes (e.g., when the stalk is >7 mm) and/or clinical deterioration.…”