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CASE REPORT |
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| Ahead of print
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| Neurosarcoidosis: frozen section rescue for a big mimicker – a case report |
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Farhan A Siddiqui1, Jawad Al-Khalaf1, Yusef Al-Marzooq1, Jaffer Al-Obaid2, Abdulhakim Y M. Almarzooq3
1 Department of Laboratory and Blood Bank, King Fahad Hospital, Hofuf, Kingdom of Saudi Arabia
2 Department of Radiodiagnosis, King Fahad Hospital, Hofuf, Kingdom of Saudi Arabia
3 College of Medicine, King Faisal University, Al-Ahsa, Kingdom of Saudi Arabia
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| Date of Submission | 01-Aug-2022 |
| Date of Decision | 28-Aug-2022 |
| Date of Acceptance | 31-Aug-2022 |
| Date of Web Publication | 03-Mar-2023 |
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 Abstract | | |
Neurosarcoidosis is an uncommon but potentially serious manifestation of sarcoidosis. Diagnosis may be particularly challenging especially when neurosarcoidosis occurs in isolation or is the initial presentation of the systemic disease. The authors take this opportunity to report a case of neurosarcoidosis, presenting as the first manifestation of the disease, diagnosed on frozen section, occurring in a 43-year-old male patient with no past history or manifestation of sarcoidosis.
Keywords: Frozen section, neurosarcoidosis, sarcoidosis
How to cite this URL:
Siddiqui FA, Al-Khalaf J, Al-Marzooq Y, Al-Obaid J, M. Almarzooq AY. Neurosarcoidosis: frozen section rescue for a big mimicker – a case report. Indian J Pathol Microbiol [Epub ahead of print] [cited 2023 Mar 27]. Available from: https://www.ijpmonline.org/preprintarticle.asp?id=371231 |
| Introduction | |  |
Sarcoidosis is an idiopathic inflammatory disease affecting any organ and has varied presentations. Neurosarcoidosis refers to involvement of the central nervous system by sarcoidosis, this may occur in known patients of sarcoidosis or maybe the initial manifestation of the disease. In the latter, it can be a source of considerable confusion, owing to the non-specific imaging findings.
A 43-year-old male patient presented to the emergency department of our hospital after an accident. According to the patient's wife, who was with him, the patient had an attack of convulsion while driving, resulting in accident. This was his first episode of convulsion, and there was no associated vomiting or any evidence of head trauma. Past history was not contributory except that he was a chronic smoker. On general examination, the patient was fully oriented with no memory of the accident. His general and systemic examinations were normal.
NECT scan brain showed hyperdense lesion in right parieto-temporal subinsular region, with significant surrounding vasogenic edema compressing ipsilateral lateral ventricle, effacement of sylvian fissure and cortical sulci, and midline shift to left. MRI brain (T2) revealed ill-defined hypointense mass in right subinsular white matter and temporal lobe, cystic lesion in anterior pole of right temporal lobe, significant vasogenic edema with mass effect, and midline shift to left side. MRI brain (T1) revealed enhancement of masses, ring-enhancing lesion in anterior temporal lobe. Thick meningeal enhancement in right sylvian fissure [Figure 1]. A radiological diagnosis suggestive of high-grade multifocal gliomas, less likely to be metastasis, was rendered. | Figure 1: (a and b) Axial T2-weighted images show hypointense mass in right subinsular white matter and temporal lobe, cystic lesion also in anterior pole of right temporal lobe. Significant vasogenic edema with mass effect and midline shift to left side, (c) axial T1-weighted images show isointense lesions to brain parenchyma (white matter), (d) axial T1 C + FS scans show enhancement of masses, ring-enhancing lesion in anterior temporal lobe. Thick meningeal enhancement in right sylvian fissure
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Frozen sections were performed, which revealed non-caseating granulomatous inflammation in a background of reactive gliosis [Figure 2]. A tentative diagnosis of neurosarcoidosis was suggested and permanent sections also showed similar picture [Figure 3]. Special stains (ZN stain and GMS) performed on the permanent sections were negative. | Figure 2: (a) Microphotograph from frozen section showing non-caseating granulomatous inflammation (↑) in a background of reactive gliosis (*) (H and E, 40×), (b) microphotograph from frozen section showing non-caseating granulomatous inflammation (↑) in a background of reactive gliosis and gemistocytes (*) (H and E, 100×), (c) microphotograph from frozen section showing non-caseating granulomatous inflammation (↑) in a background of reactive gliosis and gemistocytes (*) (H and E, 200×)
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 | Figure 3: (a) Microphotograph from permanent section showing multiple areas of non-caseating granulomatous inflammation (↑) in a background of reactive gliosis (*) (H and E, 40×), (b) microphotograph from permanent section showing non-caseating granulomatous inflammation (↑) in a background of reactive gliosis and gemistocytes (*) (H and E, 100×), (c) microphotograph from permanent section showing non-caseating granulomatous inflammation (↑) in a background of reactive gliosis and gemistocytes (*) (H and E, 200×)
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Chest X-ray showed enlarged both hilar regions. CT chest showed symmetrical bilateral hilar as well as mediastinal lymphadenopathy involving right paratracheal and subcarinal mediastinal groups, and showing central area of breaking down [Figure 4]. | Figure 4: (a and b) CECT of chest showed enlarged lymph nodes in the pretracheal, prevascular space, and aortopulmonary window. Hilar lymph nodes are also enlarged
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The patient was started on systemic corticosteroids and has responded well with the treatment.
| Discussion | | |
Sarcoidosis is an idiopathic systemic disease which is histologically characterized by the formation of non-caseating granulomas. Although it may occur in any part of the body, lungs and lymph nodes are the most common sites of involvement. It may affect any race but is more commonly reported in African-Americans and North European whites, with slight female predilection. The disease commonly affects adults in 20–40-year age group, but no age group is immune.[1]
The exact cause of sarcoidosis is unknown; however, certain genetic predisposition and environmental factors have been attributed to its etiology. Genetic factors include major histocompatibility complex and complement receptor gene, while environmental factors maybe infectious (like Mycobacterium tuberculosis, Propionibacterium acnes, Propionibacterium granulosum) or non-infectious (such as pesticides, insecticides, metal dusts, silica, talc, pine pollen, and man-made mineral fibers).[2],[3]
CNS involvement (neurosarcoidosis) is seen in upto 25% of patients with systemic sarcoidosis. The patients with systemic sarcoidosis rarely present with any neurologic symptoms as their first manifestation, which was seen in our case.[4] In autopsy series, about one-fourth of the patients with systemic disease showed histologic evidence of CNS involvement, inferring that its prevalence is under reported.[1] Neurosarcoidosis is generally associated with involvement of other sites; however, isolated cases have also been reported. Sarcoidosis can involve any part of the nervous system but most commonly involves the leptomeninges (40%).[1] Spinal involvement in neurosarcoidosis was considered even rarer; however, the notion is changing with the widespread use of MRI.[4] Intramedullary involvement is now reported in up to 25% of patients with neurosarcoidosis, with the cervical and upper thoracic spine being the more commonly affected.[5]
A patient of neurosarcoidosis presents with clinical features depending on the site of involvement and may include headaches, seizures, weakness, paresis, paresthesia, diplopia, dysarthria, facial nerve paralysis, vision loss, thirst, polyuria, hydrocephalus, lower extremity weakness, and myelopathy.[1],[4],[5] Our case presented with an episode of seizures. Bell's palsy is the most common neurological manifestation of sarcoidosis, with the optic nerve being the next cranial nerve to be affected after the seventh nerve.[3]
Histopathological examination plays a major role in establishing the diagnosis of neurosarcoidosis in view of the paucity of reliable laboratory tests. Tissue biopsy shows non-caseating granulomas composed of epithelioid cells, helper T cells, and Langhans' giant cells with the absence of any organism or other provoking agents.[1],[5] Sometimes when the biopsy from the CNS lesion is not advisable/possible, then a presumptive diagnosis of neurosarcoidosis can be supported based on the clinical or radiological evidence of CNS lesions, a positive Kveim test, abnormal chest radiograph, Gallium scan findings, or elevated serum angiotensin converting enzyme (ACE) levels.[1] Kveim test is now rarely used for its safety concerns.[1],[3],[5] Whole-body Gallium scan has poor specificity.[1] ACE serum levels have low sensitivity and specificity, elevated in many other disorders including diabetes, silicosis, and cirrhosis.[4] Final diagnosis often requires biopsy.[6]
The first-line therapy for neurosarcoidosis is systemic corticosteroids. Steroid-sparing immuno-suppressants are used for the resistant cases or as an adjuvant for long-term steroids use.[5] Surgical intervention is rarely required, in view of favorable response with corticosteroids. However, ventriculoperitoneal shunting may be performed in patients with hydrocephalus, secondary to neurosarcoidosis. Imaging follow-up is recommended because of high rate of progression and recurrence following treatment.[1] Prognosis of chronic NS is poor.[7],[8]
Neurosarcoidosis can mimic common neurosurgical entities. This becomes a major challenge, as practically every neurological symptom and radiological feature can be seen in neurosarcoidosis, mimicking a wide spectrum of neurological diseases. Besides, the disease is rare and most physicians have little experience with it. It is important to keep neurosarcoidosis in the differential diagnosis for any non-vascularized space-occupying lesions in the central nervous system. A preoperative suspicion of neurosarcoidosis, clinically or radiologically, may alert the pathologist to look carefully for granulomas because neurosarcoidosis can mimic a neoplasm. A stereotactic biopsy or even frozen section, as in our case, may expedite diagnosis and reduce morbidity.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Lury KM, Smith JK, Matheus MG, Castillo M. Neurosarcoidosis: Review of imaging findings. Semin Roentgenol 2004;39:495–504.  |
| 2. | Iannuzzi MC, Maliarik M, Rybicki BA. Nomination of a candidate susceptibility gene in sarcoidosis. The complement receptor 1 gene. Am J Respir Cell Mol Biol 2002;27:3–7. |
| 3. | Hoitsma E, Faber CG, Drent M, Sharma OP. Neurosarcoidosis: A clinical dilemma. Lancet Meurol 2004;3:397–407. |
| 4. | Adams S, Varallo-Nunez A. Neurosarcoidosis: A case review. Pathol J RCPA 2015;47:S79. doi: 10.1097/01.PAT.0000461545.45309.ad. |
| 5. | Bathla G, Singh AK, Policeni B, Agarwal A, Case B. Imaging of neurosarcoidosis: common, uncommon and rare. Clin Radiol 2016;71:96–106. |
| 6. | Walid MS, Ajjan M, Grigorian AA. Neurosarcoidosis – The great mimicker. J Natl Med Assoc 2008;100:859–61. |
| 7. | Woitalla D, Henker H, Felebr S, Weber W, Jänisch W, Kühne D. Clinical manifestations and diagnostic imaging in neurosarcoidosis. Radiology 2000;40:1064–-76. |
| 8. | Moore FGA, Andermann F, Richardson J. The role of MRI and nerve root biopsy in the diagnosis of neurosarcoidosis. Can J Neurol Sci 2001;28:349–53. |
Correspondence Address:
Farhan A Siddiqui,
Department of Laboratory and Blood Bank, King Fahad Hospital Hofuf
Kingdom of Saudi Arabia
 Source of Support: None, Conflict of Interest: None DOI: 10.4103/ijpm.ijpm_638_22
[Figure 1], [Figure 2], [Figure 3], [Figure 4] |
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