Multiple Primary Intracranial and Spinal Juvenile Xanthogranuloma: A Case Report

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Almanea AK ◽  
◽  
Alqazlan MS ◽  
Bardisi MM ◽  
Alotaibi F ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Treatment Options ◽  
Neck Region ◽  
Braf V600e ◽  
Molecular Characteristics ◽  
Juvenile Xanthogranuloma ◽  
Cutaneous Lesions ◽  
Activating Mutation ◽  
The Central Nervous System

Juvenile Xanthogranuloma (JXG) is a rare histiocytic disorder that belongs to the non-Langerhans cell histiocytosis family. It commonly occurs in the skin of young children, particularly the head and neck region. Occasional cases with extracutaneous involvement have been described. However, involvement of the central nervous system without cutaneous lesions is extremely rare. We present a case of an 11-year-old male child with multiple intracranial and spinal JXGs. At 30 months follow up, after administration of chemotherapy, the patient had passed away. The broad clinical spectrum of JXG and the morphological resemblance to other histiocytic lesions prompt a cautious approach for the diagnosis. Immunohistochemically, those lesions were positive for CD68 and negative for S100 and CD1a. A revised classification for histiocytosis was recently proposed, based on the underlying molecular characteristics. The diagnosis of extracutaneous or disseminated JXG with MAPK-activating mutation or ALK translocations was considered as Erdheim-Chester disease. However, our study did not fit into the proposed classification due to the absence of BRAF-V600E gene mutation and ALK gene rearrangement. Chemotherapy with or without radiotherapy has been suggested as treatment options for unresectable central nervous system lesions.

scholarly journals A Complete Constellation of Nervous System Lesions of NF2: Imaging Evaluation

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Kiran Gangadhar ◽  
Sandeep Kumar ◽  
Lovekesh Bhatia ◽  
Arjit Agarwal
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hearing Loss ◽  
Neurofibromatosis Type ◽  
Radiological Findings ◽  
Case Patient ◽  
Cutaneous Lesions ◽  
Imaging Evaluation ◽  
The Central Nervous System

The radiological findings fulfilling the criteria of neurofibromatosis type 2 (NF2) were reviewed. NF2 is a rare disease with few cutaneous but frequent, typical radiological findings in the central nervous system. The presenting symptom is most commonly hearing loss due to acoustic schwannomas, although symptoms emanating from other intracranial or tumors are not uncommon. The discovery of multiple spinal neurofibromas or multiple meningiomas without cutaneous lesions should initiate a search for acoustic schwannomas even when the patient has normal hearing as in our case patient who actually presented for weakness of all four limbs.

scholarly journals BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease

2019 ◽  
Vol 7 (1) ◽  
Author(s):  
J. Picarsic ◽  
T. Pysher ◽  
H. Zhou ◽  
M. Fluchel ◽  
T. Pettit ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Diagnostic Algorithm ◽  
Braf V600e ◽  
Juvenile Xanthogranuloma ◽  
Female Ratio ◽  
Integrated Diagnosis ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

Abstract The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the “L” (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Chester disease (ECD). Although the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH, only three reported JXG neoplasms, all in male pediatric patients with localized central nervous system (CNS) involvement, are known to harbor the BRAF mutation. This retrospective case series seeks to redefine the clinicopathologic spectrum of pediatric CNS-JXG family neoplasms in the post-BRAF era, with a revised diagnostic algorithm to include pediatric ECD. Twenty-two CNS-JXG family lesions were retrieved from consult files with 64% (n = 14) having informative BRAF V600E mutational testing (molecular and/or VE1 immunohistochemistry). Of these, 71% (n = 10) were pediatric cases (≤18 years) and half (n = 5) harbored the BRAF V600E mutation. As compared to the BRAF wild-type cohort (WT), the BRAF V600E cohort had a similar mean age at diagnosis [BRAF V600E: 7 years (3–12 y), vs. WT: 7.6 years (1–18 y)] but demonstrated a stronger male/female ratio (BRAF V600E: 4 vs WT: 0.67), and had both more multifocal CNS disease ( BRAFV600E: 80% vs WT: 20%) and systemic disease (BRAF V600E: 40% vs WT: none). Radiographic features of CNS-JXG varied but typically included enhancing CNS mass lesion(s) with associated white matter changes in a subset of BRAF V600E neoplasms. After clinical-radiographic correlation, pediatric ECD was diagnosed in the BRAF V600E cohort. Treatment options varied, including surgical resection, chemotherapy, and targeted therapy with BRAF-inhibitor dabrafenib in one mutated case. BRAF V600E CNS-JXG neoplasms appear associated with male gender and aggressive disease presentation including pediatric ECD. We propose a revised diagnostic algorithm for CNS-JXG that includes an initial morphologic diagnosis with a final integrated diagnosis after clinical-radiographic and molecular correlation, in order to identify cases of pediatric ECD. Future studies with long-term follow-up are required to determine if pediatric BRAF V600E positive CNS-JXG neoplasms are a distinct entity in the L-group histiocytosis category or represent an expanded pediatric spectrum of ECD.

scholarly journals Proceedings of the Sleep and Epilepsy Workgroup: Section 2 Comorbidities: Sleep Related Comorbidities of Epilepsy

2021 ◽  
pp. 153575972110045
Author(s):  
Milena K. Pavlova ◽  
Marcus Ng ◽  
Rebecca M. Allen ◽  
Melanie Boly ◽  
Sanjeev Kothare ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Chronic Disease ◽  
Circadian Rhythms ◽  
Sleep Disorders ◽  
Treatment Options ◽  
Interdisciplinary Approach ◽  
Sleep Medicine ◽  
The Central Nervous System ◽  
Treatment Priorities

Epilepsy is a chronic disease with multiple, complex comorbidities. Bidirectional relationships exist among seizures, sleep, circadian rhythms, and diseases within and outside of the central nervous system. Seizures fragment sleep and can contribute to development of sleep disorders, which in turn leads to worse overall health and more seizures. Moreover, treatment options are often limited by interactions with anti-seizure medications. Advances in the fields of epilepsy and in sleep medicine have been made separately, and therefore treating patients with these comorbidities necessitates interdisciplinary approach. The focus of this section of the Sleep and Epilepsy Workgroup was to identify methods of collaboration and outline investigational, educational, and treatment priorities to mutually advance what we consider a combined field.

scholarly journals DIAGNOSIS OF PLEOMORPHIC XANTHOASTROCYTOMA

2021 ◽  
Vol 11 (9) ◽  
pp. 457-461
Author(s):  
Eryk Mikos ◽  
Joanna Dmochowska ◽  
Karol Kanon ◽  
Sara Moqbil ◽  
Wanesa Góralczyk
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Histopathological Examination ◽  
Tumor Resection ◽  
Final Diagnosis ◽  
Pleomorphic Xanthoastrocytoma ◽  
Braf V600e ◽  
Cell Nuclei ◽  
The Central Nervous System ◽  
Magnetic Resonance Imaging Mri

Introduction. Pleomorphic xanthoastrocytoma (PXA) is a rare astrocytic cancer of the central nervous system that is classified as grade II according to the WHO score. It accounts for 1% of primary brain tumors. It is mainly located in the temporal lobe and belongs to a group of tumors called long-term epilepsy associated tumors. Surgical tumor resection is the treatment of choice. Brief description of the state of knowledge. The non-invasive method of PXA diagnostics is neuroimaging, which is based on computer tomography (CT) and magnetic resonance imaging (MRI). In the image, PXA presents as a solid tumor undergoing contrast enhancement, located supratentorial, with frequent peripheral cystic components. The characteristic histologic picture for PXA is the presence of highly pleomorphic, fusiform or round, large astrocytes with single or multiple cell nuclei. Lymphoplasmic infiltrates are visible within the tumor. The most common mutations associated with the occurrence of this cancer are mutations in the BRAF V600E gene. Conclusions. PXA is a very rare tumor of the central nervous system (CNS) that can recur and spread throughout the CNS. Imaging tests, i.e. CT and MRI, allow for precise imaging of the lesion, however, it is necessary to perform a histopathological examination to make a final diagnosis. The rarity of this cancer assimilates diagnostic problems. Therefore, further molecular research is needed to develop more efficient diagnostics.

scholarly journals What pulmonologists need to know about extrapulmonary tuberculosis

Breathe ◽  
2020 ◽  
Vol 16 (4) ◽  
pp. 200216
Author(s):  
Delphine Natali ◽  
Georges Cloatre ◽  
Christian Brosset ◽  
Pierre Verdalle ◽  
Alain Fauvy ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Clinical Features ◽  
Diagnostic Tests ◽  
Treatment Options ◽  
Extrapulmonary Tuberculosis ◽  
Medical Emergency ◽  
Treatment Regimens ◽  
The Central Nervous System

Extrapulmonary tuberculosis (EPT) can affect all organs. Its diagnosis is often challenging, especially when the lung is not involved. Some EPT locations, such as when the central nervous system is involved, are a medical emergency, and some have implications for treatment options and length. This review describes clinical features of EPT, diagnostic tests and treatment regimens.

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