Adult-onset Neurological Langerhans Cell histiocytosis and Response to Treatment

Case Report

Austin J Clin Neurol 2021; 8(1): 1146.

Adult-onset Neurological Langerhans Cell histiocytosis and Response to Treatment

Al-Hader R1, Suneja A1, Mukherje A2 and Memon AB1,3*

¹Department of Neurology, Henry Ford Hospital, USA

²Department of Pathology, Henry Ford Hospital, USA

³Wayne State University, School of Medicine, USA

*Corresponding author: Anza Bilal Memon, Department of Neurology, Henry Ford Hospital, 2799 W. Grand Blvd., Detroit, Michigan 48202, USA

Received: April 12, 2021; Accepted: April 28, 2021; Published: May 05, 2021


Introduction: Langerhans Cell Histiocytosis (LCH) is a rare form of cancer that mostly affects children and rarely adults. LCH involves an abnormal clonal proliferation of Langerhans cells in the bone marrow. These cells are capable of migrating from the skin to lymph nodes. Therefore, it is characterized as a multisystem disease. Neurological manifestations are not common, and often patients’ present with endocrine dysfunction with neuroimaging findings of hypothalamic and pituitary masses can mimic pituitary adenoma. Here, we discuss two instances of unusual adult-onset, primary neurological LCH in patients with a positive response to therapy-these two patients presented with mass lesion and neurodegenerative form of LCH, respectively. LCH can manifest features of mass lesions or neurodegeneration on brain Magnetic Resonance Imaging (MRI). Since it is rare in adults, it is crucial to identify this condition as timely treatment can have a better prognosis.

Keywords: LCH; Pituitary tumor; Neurodegeneration; Central diabetes insipidus


Langerhans Cell Histiocytosis (LCH) is a neoplasm of myeloid origin characterized by clonal proliferation and dissemination of cells that express the CD1a and CD207 cell surface proteins. Up to 75% of LCH patients have sequence variations in the BRAF and MAP2K1 genes, contributing to the constitutive activation of the ERK signaling pathways which is a feature of LCH [1]. LCH typically is a multiorgan disease that affects children younger than 15 years; however, adult-onset LCH can appear after the fourth decade of life, often leading to delayed diagnosis.

LCH with CNS involvement can manifest in a variety of forms [2]. It can present with Diabetes Insipidus (DI), neurodegenerative changes, and mass lesions [3-7]. The most common manifestation of LCH is the DI, followed by the neurodegenerative changes [3-7]. Mass lesions are the least common CNS manifestation of LCH [3,4]. These lesions can arise from meninges (dura matter), hypothalamus, pineal gland and choroid plexus. The neurodegenerative changes are typically seen in the posterior fossa and can involve the cerebellum, brainstem and basal ganglia [3-7].

Hypothalamic pituitary involvement, and DI is seen in about 25% of the patients with LCH and as many as 50% of patient with multisystem disease [8]. LCH is generally characterized by a wide range of symptoms that vary depending on the organ involved, with the most common symptoms being bone pain and skin rash. Nevertheless, idiopathic central diabetes insipidus, large pituitary tumors, and anterior pituitary dysfunction in otherwise healthy adults indicate LCH with CNS involvement. In this case series, we describe two patients who presented with adult-onset CNS manifestations of LCH with a mass lesion that involved the pituitary-hypothalamic axis and neurodegenerative form the disease. Both patients had a good response to treatment.

Case Presentati

Case 1: A 43-year-old woman presented with recurrent syncopal episodes, daily headaches, difficulty with word choice, visual field deficits, and short-term memory problems. Upon examination, she was noted to have bitemporal hemianopsia. Magnetic Resonance Imaging (MRI) of the brain revealed a 23.4 x 21.6 x 15.3 mm suprasellar mass with mild inferior displacement of the optic chiasm associated with vasogenic edema. Fluid-Attenuated Inversion Recovery (FLAIR) images showed a potential mass effect associated with gadolinium enhancement without diffusion restriction (Figure 1, A-C). The patient underwent bifrontal craniotomy and suprasellar mass debulking. Histological test results revealed a proliferation of histiocytes admixed with lymphocytes, plasma cells, and some eosinophils. Histiocytes had a moderate amount of foamy cytoplasm, which is indicative of LCH (Figure 1, G-I). Post-operatively, the patient presented with panhypopituitarism and central diabetes insipidus. Positron Emission Tomography (PET) showed hypermetabolic left cervical lymph nodes; however, the lymph nodes’ fine-needle aspiration did not reveal typical LCH pathology. The patient started radiation therapy. The patient remained clinically stable, and an MRI of the brain one year later showed a suprasellar mass that was slightly smaller relative to initial imaging (Figure 1, D-F). The patient is being followed in the outpatient neurology, endocrinology, ophthalmology, and oncology clinic for close observation.

Citation: Al-Hader R, Suneja A, Mukherje A and Memon AB. Adult-onset Neurological Langerhans Cell histiocytosis and Response to Treatment. Austin J Clin Neurol 2021; 8(1): 1146.