Neurodegeneration in the course of Langerhans cell histiocytosis

Abstract

Cerebral involvement in the course of Langerhans cell histiocytosis has been described especially in children. It is mainly characterized by hypothalamic-pituitary functional deficit, due to granuloma growth. Here we describe a rare case of adult-onset histiocytosis developing a neurodegenerative disease resembling multiple system atrophy. The patient we describe here started suffering from subtle personality changes which progressed to a severe neurological syndrome 2 years after the diagnosis of histiocytosis. Twenty years before she developed a diabetes insipidus, without any apparent cause. Brain MRI scans at the time of neurodegeneration revealed slight signal alterations at the cerebellum, especially involving the dentate nuclei and the white matter. Despite being rare, histiocytosis should be considered in adult patients with cerebellar abnormalities and/or with unexplained diabetes insipidus to rapidly discern and treat histiocytosis before the onset of its neurodegenerative, untreatable phase.

Direct visualization of cerebellar nuclei in patients with focal cerebellar lesions and its application for lesion-symptom mapping

“…SWI is already widely used in the clinic to identify vascular abnormalities and microbleeds. Another clinical application is to show abnormalities of iron-rich brain areas such as the basal ganglia and the cerebellar nuclei [for example, signal alterations in histiocytosis (Spagnolo et al, 2011), neurodegeneration with brain iron accumulation (NBIA; Clement et al, 2007), multiple sclerosis (Tjoa et al, 2005), and cerebrotendinous xanthomatosis (De Stefano et al, 2001)]. Susceptibility effects increase with increasing field strength, which also allows for better spatial resolution (Marques et al, 2010a;Theysohn et al, 2011).…”

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.…”

Histiocitose De Células De Langherhans. Relato De Caso

“…O envolvimento cerebral na hisitocitose X é descrito principalmente em crianças. Caracteriza-se, mais comumente, por déficit funcional hipotalâmico-hipofisário, secundário ao crescimento de granulomas 8 . O diabetes insipidus central pode ser a primeira manifestação da doença 9 e é radiologicamente demonstrado pelo espessamento do halo hipofisário 10 .…”