Systemic and Neurosarcoidosis With Rare Involvement of the Extremities' Peripheral Nerves.

ABSTRACT: We present a case of sarcoidosis with a rare presentation of involvement of peripheral nerves of the lower limbs and subcutaneous nodules detected on 18 F-FDG PET/CT. The patient also had involvement of the spinal nerves and dura, histologically proven to be sarcoidosis. There were other manifestations of systemic sarcoidosis like metabolically active cervical and mediastinal lymphadenopathy. This case highlights the role of 18 F-FDG PET/CT in evaluating the uncommon sites of sarcoid involvement. Although many cases of sarcoid involvement of central nervous system have been reported, peripheral nerves involvement in the extremities was not found on a literature search.

[A case of neurosarcoidosis initially diagnosed as cervical spondylotic myelopathy, leading to diagnosis by gadolinium contrast-enhanced MRI].

A 70-year-old female presented with bilateral numbness in her upper limbs. She was diagnosed with cervical spondylotic myelopathy and underwent cervical laminoplasty. However, there was no significant improvement in sensory disturbance, and at 6 months after surgery, she developed subacute motor and gait disturbance in four extremities. Spinal MRI revealed a long lesion of the spinal cord with edema, and a part of the lesion showed gadolinium contrast enhancement. Bronchoscopy revealed an elevated CD4/8 ratio, and gallium scintigraphy demonstrated an accumulation in the hilar lymph nodes, leading to a diagnosis of neurosarcoidosis. In case of rapid deterioration during the course of cervical spondylotic myelopathy, neurosarcoidosis should be considered as a differential diagnosis, which can be assessed by contrast-enhanced MRI.

Clinicoradiological features of probable chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) syndrome.

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a recently described chronic inflammatory central nervous system disease. This case report describes a young female patient presenting with weakness in bilateral upper and lower limbs and tinnitus for 2 months. A neurological examination revealed signs of brainstem and cerebellar involvement. MRI brain showed characteristic features of CLIPPERS, with punctate and nodular enhancement in the pons and cerebellum. Differential diagnoses were systematically considered and excluded. The patient showed significant clinical and radiological improvement with steroid therapy. No clinical or radiological red flags occurred during the follow-up. This case underscores the critical role of integrating clinical and radiological findings to effectively diagnose and manage CLIPPERS. It emphasises the importance of ruling out alternative diagnoses through a thorough evaluation.

Adalimumab as treatment for neurosarcoidosis: A case series.

Sarcoidosis is a disease characterized by non-caseating granulomas that can involve the central nervous system as neurosarcoidosis. This challenging disease is currently managed with high dose steroids, and sometimes the addition of infliximab. Other TNA-alpha inhibitors have not been studied as rigorously. We discovered ten neurosarcoidosis patients who were on an alternative TNA-alpha inhibitor, adalimumab. Eight patients had a positive response clinically and radiographically to adalimumab.

Corticospinal tract hyperintensity in patients with LGI1-antibody encephalitis and other central nervous system disorders with neuroglial antibodies.

The frequency of corticospinal tract (CST) T2/FLAIR hyperintensity in disorders with neuroglial antibodies is unclear. Herein, we retrospectively reviewed brain MRIs of 101 LGI1-antibody encephalitis patients, and observed CST hyperintensity in 30/101 (30%). It was mostly bilateral (93%), not associated with upper motor neuron signs/symptoms (7%), and frequently decreased over time (39%). In a systematic review including patients with other neuroglial antibodies, CST hyperintensity was reported in 110 with neuromyelitis optica (94%), myelin oligodendrocyte glycoprotein-associated disease (2%), Ma2-antibody (3%) and GAD65-antibody paraneoplastic neurological syndrome (1%). CST hyperintensity is not an infrequent finding in LGI1-Ab encephalitis and other disorders with neuroglial antibodies.

Translating ultrasound-mediated drug delivery technologies for CNS applications.

Ultrasound enhances drug delivery into the central nervous system (CNS) by opening barriers between the blood and CNS and by triggering release of drugs from carriers. A key challenge in translating setups from in vitro to in vivo settings is achieving equivalent acoustic energy delivery. Multiple devices have now been demonstrated to focus ultrasound to the brain, with concepts emerging to also target the spinal cord. Clinical trials to date have used ultrasound to facilitate the opening of the blood-brain barrier. While most have focused on feasibility and safety considerations, therapeutic benefits are beginning to emerge. To advance translation of these technologies for CNS applications, researchers should standardise exposure protocol and fine-tune ultrasound parameters. Computational modelling should be increasingly used as a core component to develop both in vitro and in vivo setups for delivering accurate and reproducible ultrasound to the CNS. This field holds promise for transformative advancements in the management and pharmacological treatment of complex and challenging CNS disorders.

Neurosarcoidosis involving cervical nerve root with unusual MRI findings: a case report and systematic literature review.

BACKGROUND: Neurosarcoidosis is rare, and among its manifestations, nerve root involvement has been reported in only a few cases. Therefore, magnetic resonance imaging (MRI) findings of neurosarcoidosis, particularly those involving nerve roots, are scarce in the literature. METHODS: We presented the case of neurosarcoidosis involving cervical nerve roots and cranial nerves, alongside a systematic literature review. RESULTS: A 28-year-old female suddenly developed right facial numbness as well as left upper extremity and left hand pain. Initial brain and spine MRI showed a bulging mass of T2 iso-to-high signal intensity in the left Meckel's cave/trigeminal nerve, as well as diffuse enlargement of the right C6 and C7 nerve roots. Follow-up MRI at 2 months revealed a reduction in the size of the initial lesion and the appearance of new similar lesions on the contralateral side (right Meckel's cave, left C3-C8 nerve roots). In particular, the lesions involving the nerve roots demonstrated central enlargement along the nerve roots, without involvement of the adjacent spinal cord. All these lesions exhibited enhancement, leading to the differentiation between sarcoidosis and lymphoma. Sarcoidosis was subsequently confirmed through biopsy of a hilar lymph node. CONCLUSIONS: This report presents a distinctive MRI feature of neurosarcoidosis involving spinal nerve roots, representing the first of its kind, and describes the evolution of MRI findings throughout the clinical course.

Isolated neurosarcoidosis with a primary lesion in the cauda equina.

A man in his late 50s without notable medical background was admitted with subacute onset of bilateral lower extremity weakness. Blood and physiological examinations revealed no significant abnormalities. Cerebrospinal fluid (CSF) examination revealed elevated cell count and protein levels and an immunoglobulin G index of 2.01. T1-weighted MRI showed swelling and enhancement of the cauda equina. After admission, the patient developed bowel and bladder incontinence, deteriorated to manual muscle test 0 and developed right trochlear, trigeminal and facial nerve palsy. He underwent a cauda equina biopsy and was diagnosed with neurosarcoidosis. After methylprednisolone pulse therapy and corticosteroid treatment, cauda equina syndrome including lower extremity weakness and cerebral nerve palsy improved. The patient's daily activities improved to the baseline level over 2 months after discharge. Serum and CSF soluble interleukin-2 receptor levels were within the reference range and decreased with the improvement of neurological and imaging findings.

[Neurosarcoidosis: Onset with involvement of multiple neurological sites]. / Neurosarcoidosis: inicio con compromiso de múltiples sitios neurológicos.

We present the case of a healthy young woman who consulted for left peripheral facial palsy associated with fever, dry cough, dyspnea, and asthenia of two weeks' evolution. Physical examination revealed hypoesthesia in left T6 to T12 dermatomes and bilateral galactorrhea. In the laboratory, she presented negative viral serology, elevated erythrocyte sedimentation rate, antinuclear antibody titers, prolactin and thyroid-stimulating hormone, with positive antiperoxidase antibodies. Computed tomography showed multiple bilateral cervical, mediastinal, and hilar adenopathies, without involvement of lung parenchyma. Cerebrospinal fluid culture was negative for common germs, mycobacteria, and Xpert MTB/RIF, and cytology did not show atypia. Contrast-enhanced magnetic resonance was performed on the brain without pathological findings and on the spine with alteration of the centromedullary signal from T6 to T9 of almost the entire thickness of the cord, with posterior enhancement with gadolinium. During hospitalization, she recovered sensitivity in the left trunk and did not repeat febrile or cough episodes. She was referred to another center for mediastinoscopy with lymph node biopsy revealing the presence of numerous non-caseating granulomas compatible with sarcoidosis. It was classified as probable neurosarcoidosis and started treatment with corticosteroids with improvement of the remaining neurological symptoms. A magnetic resonance was performed three months later where the signal alteration was limited from T7 to T8. Our objective is to highlight the florid neurological presentation that made it necessary to rule out other more frequent entities and the favorable evolution even before starting a first-line scheme of treatment.

Presentamos el caso de una mujer joven sana, que consultó por parálisis facial periférica izquierda asociada a fiebre, tos seca, disnea y astenia de dos semanas de evolución. Al examen físico se evidenció hipoestesia en dermatomas D6 a D12 izquierdos y galactorrea bilateral. En el laboratorio presentaba serologías virales negativas, eritrosedimentación, títulos de anticuerpos antinucleares, prolactina y hormona tiroestimulante elevados, con anticuerpos antiperoxidasa positivos. La tomografía computarizada mostró múltiples adenopatías cervicales, mediastinales e hiliares bilaterales, sin compromiso del parénquima pulmonar. El cultivo de líquido cefalorraquídeo fue negativo para gérmenes comunes, micobacterias (Xpert MTB/RIF), y la citología no mostró atipia. Se realizó una resonancia magnética con contraste endovenoso de cerebro sin hallazgos patológicos y de columna con alteración de la señal centromedular de D6 a D9 de casi la totalidad del espesor del cordón, con refuerzo con contraste endovenoso. Durante la internación recuperó la sensibilidad en tronco izquierdo y no repitió episodios febriles o tusígenos. Se realizó mediastinoscopía con biopsia ganglionar con anatomía patológica con presencia de numerosos granulomas no caseificantes compatibles con sarcoidosis. Se clasificó como neurosarcoidosis probable e inició tratamiento con corticoides con mejoría de los síntomas neurológicos restantes, realizándose una resonancia magnética a los tres meses, donde la alteración de la señal se limitaba desde D7 a D8. Nuestro objetivo es destacar la presentación neurológica en múltiples sitios que obligó a descartar otras entidades más frecuentes, así como la evolución favorable incluso previo al inicio de un esquema de tratamiento de primera línea.

Successful anesthesia management with inhalation anesthesia in Rosai-Dorfman disease: a case report.

Rosai-Dorfman disease (RDD) is a rare, benign, non-Langerhans cell histiocytic proliferative disease. RDD with central nervous system involvement is extremely rare. Surgical excision is generally regarded as the appropriate treatment of choice for this disease, especially when the lesion causes neurological compression. RDD can be accompanied by systemic symptoms, such as malaise, fever, weight change, leukocytosis, anemia, and hormonal disturbance, which may be challenging during general management. Little is known regarding peri-anesthesia management of this rare disease. We report a case of a patient in his 20s who had recurrent RDD and had general anesthesia with perioperative management. He was obese and hepatic insufficiency. This case report adds to the literature regarding the perioperative anesthetic management of RDD with central nervous system involvement.

Neurosarcoidosis causing hydrocephalus: A case series.

Sarcoidosis is a granulomatous inflammatory disease that rarely affects the central nervous system as neurosarcoidosis. Neurosarcoidosis can affect any part of the nervous system causing a wide variety of clinical presentations ranging from seizures to optic neuritis. Here, we highlight rare cases of obstructive hydrocephalus in patients with neurosarcoidosis to make clinicians aware of this potential disease complication.

Cyclophosphamide for severe acute forms of central nervous system inflammatory disorders.

Cyclophosphamide (CYC) may be an effective treatment in patients who fail first line therapy for severe central nervous system (CNS) inflammatory disorders including CNS vasculitis, neuromyelitis optica, autoimmune encephalitis, tumefactive and aggressive multiple sclerosis (MS). We performed a retrospective analysis of 46 patients treated with CYC after failing first line therapy for severe CNS inflammatory conditions. Primary outcomes included modified Rankin Scale (mRS) for patients classified into a non-MS group, Expanded Disability Status Score (EDSS) for MS patients, and Targeted Neurological Deficit score (TND) for all patients. Secondary outcome included neuroimaging studies following CYC treatment. By the second follow up period (average of 7 months) mRS in the non-MS group improved from 3.7 to 2.2 and EDSS in the MS group improved from 5.6 to 3.8. Average TND score at 7 months was 2.8 (mild-marked improvement). At first follow up (average 5.6 months), 76.2% (32/42) patients had either stable or improving imaging, and 83.3% (30/36) patients had stable or improving imaging at second follow up (average 13.6 months). Adverse events were reported by 31.9% of patients with most common being nausea and vomiting, headache, alopecia, and hyponatremia. Treatment with CYC can result in disease stabilization of severe CNS inflammatory diseases and is generally well tolerated.

Tumefactive brain parenchymal neurosarcoidosis.

BACKGROUND: Enhancing brain parenchymal disease, and especially tumefactive lesions, are an uncommon manifestation of neurosarcoidosis. Little is known about the clinical features of tumefactive lesions and their impact on management and outcomes, which this study aims to characterize. METHODS: Patients with pathologically-confirmed sarcoidosis were retrospectively reviewed and included if brain lesions were: (1) intraparenchymal, (2) larger than 1 cm in diameter, and (3) associated with edema and/or mass effect. RESULTS: Nine patients (9/214, 4.2%) were included. Median onset age was 37 years. Diagnosis was confirmed by brain parenchymal biopsies in 5 (55.6%). Median modified Rankin scale (mRS) score was 2 (range 1-4) at initial presentation. Common manifestations included headache (77.8%), cognitive dysfunction (66.7%), and seizures (44.4%). Sixteen lesions were present in 9 patients. The frontal lobe (31.3%) was most affected, followed by the subinsular region (12.5%), basal ganglia (12.5%%), cerebellum (12.5%), and pons (12.5%). MRI characteristics of the dominant lesions included spherical morphology (77.8%), perilesional edema (100.0%), mass effect (55.6%), well-demarcated borders (66.7%), and contrast enhancement (100.0%; 55.6% heterogeneous). Leptomeningitis was frequently present (77.8%). All required corticosteroid-sparing treatments, and most (55.6%) needed at least a third line of treatment (infliximab used in 44.4%). All patients relapsed (median 3 relapses, range 1-9). Median last mRS was 1.0 after median follow-up of 86 months, with significant residual deficits in 55.6%. CONCLUSION: Tumefactive brain parenchymal lesions are uncommon, usually affect the supratentorial brain along with leptomeningitis, and are refractory to initial treatments with a high risk of relapse. Significant sequelae were encountered despite a favorable median last mRS.

Neuro-Sjögren: A clinical-radiological paradox affecting the central nervous system.

Neurological manifestations can occur in up to 67% of patients with primary Sjögren's Syndrome, also known as Neuro-Sjogren's syndrome (NSS), and a 5% can present central nervous system involvement, with severe and possibly lethal consequences. We present the radiological follow-up of a patient with NSS who consulted for limb weakness and visual loss, and fourteen years later developed sicca symptoms. She was diagnosed with a saliva gland biopsy, and started treatment with steroids, cyclophosphamide, and then rituximab, achieving a favourable clinical response and stabilization of lesions. We discuss key aspects regarding the clinical presentation, diagnosis, imaging, and treatment of this elusive disease.