Extensive periventricular white matter abnormality with mediastinal adenopathy

Mark William Fegley; William W Woodruff; Santo Longo; Sudip Nanda

IMAGES IN ACADEMIC MEDICINE

Year : 2015 | Volume : 1 | Issue : 1 | Page : 41-44

Extensive periventricular white matter abnormality with mediastinal adenopathy

Mark William Fegley¹, William W Woodruff², Santo Longo³, Sudip Nanda⁴
¹ Department of Family Medicine, St. Luke's University Hospital Network, Bethlehem, Pennsylvania - 18015, USA
² Department of Neuroradiology, St. Luke's University Hospital Network, Bethlehem, Pennsylvania - 18015, USA
³ Department of Pathology, St. Luke's University Hospital Network, Bethlehem, Pennsylvania - 18015, USA
⁴ Department of Internal Medicine, St. Luke's University Hospital Network, Bethlehem, Pennsylvania - 18015, USA

Date of Web Publication

29-Dec-2015

Correspondence Address:
Sudip Nanda
Department of Internal Medicine, St. Luke's University Hospital Network, 801, Ostrum Street, Bethlehem, Pennsylvania - 18015
USA

Source of Support: None, Conflict of Interest: None

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Abstract

We report a 45-year-old African-American female who presented with 20/400 acuity in the right eye and no light perception in the left eye. Based upon a magnetic resonance imaging displaying periventricular white matter enhancement and a lymph node biopsy revealing noncaseating granulomas, we made the diagnosis of neurosarcoidosis which is the only diagnosis that can explain both. Neurosarcoidosis is difficult to diagnose, has high rates of treatment failure, significant morbidity, and 5–10% mortality. We review the differential diagnosis for periventricular white matter and granulomas, presentation of neurosarcoidosis, ocular involvement of neurosarcoidosis, treatment, and patient outcomes.
The following core competencies are addressed in this article: Patient care and medical knowledge.

Keywords: Mediastinal adenopathy, neurosarcoidosis, noncaseating granuloma, ocular neurosarcoidosis, periventricular white matter, sarcoidosis

How to cite this article:
Fegley MW, Woodruff WW, Longo S, Nanda S. Extensive periventricular white matter abnormality with mediastinal adenopathy. Int J Acad Med 2015;1:41-4

How to cite this URL:
Fegley MW, Woodruff WW, Longo S, Nanda S. Extensive periventricular white matter abnormality with mediastinal adenopathy. Int J Acad Med [serial online] 2015 [cited 2022 Jul 3];1:41-4. Available from: https://www.ijam-web.org/text.asp?2015/1/1/41/172700

Introduction

We report a case of neurosarcoidosis with significant ocular involvement in a 43-year-old female patient. There are few reports on ocular neurosarcoidosis in literature. Treatment response for ocular neurosarcoidosis has been reported as poor. Our patient was successfully treated with high dose glucocorticoids 1 mg/kg and tapered over 2 years. She displayed improvement of vision deficits and achieved stability of her eye sight. Furthermore, neurosarcoidosis is difficult to diagnose, has a variety of presentations, and has a high rate of mortality (5–10%) despite treatment.

Case Report

A 45-year-old African-American female presented with progressively worsening vision over 18 months, photophobia, visual acuity of 20/400 in the right eye, no light perception in left eye, and multiple cutaneous nodules. Blood chemistry studies revealed normal blood counts, serum chemistries, and thyroid function. Imaging studies revealed extensive periventricular white matter changes on T2-weighted magnetic resonance imaging (MRI) and fluid-attenuated inversion recovery images [Figure 1], mediastinal and bilateral hilar lymphadenopathy on a contrast-enhanced computed tomography scan of the chest [Figure 2]. Lymph node biopsy revealed noncaseating granuloma without acid-fast bacilli, fungus, or malignant cells [Figure 3].

Figure 1: Magnetic resonance imaging brain. [A] and [P] denote anterior and posterior positions. Extensive, diffuse, bilaterally symmetric white matter changes in axial fluid attenuated inversion recovery extending out from the periventricular region (A)

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Figure 2: Computed tomography chest (contrast enhanced) of enlarged mediastinal lymph nodes (B, C, D and E). There is a lymph node compressing the esophagus (C) and lymph nodes adjacent to blood vessels that look radiodense with contrast (B and E)

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Figure 3: Histopathology (H and E, ×200). Mediastinal lymph node biopsy revealing characteristic sarcoid granuloma (F) with Langhan's giant cell (G)

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Discussion

Differentials for periventricular white matter changes include multiple sclerosis, neurosarcoidosis, HIV-encephalitis, Binswanger disease, radiation injury, and leukodystrophies; for a comprehensive list [Table 1].^[1],[2] A thorough history and negative workup excluded multiple sclerosis, leukodystrophies, Binswanger disease, and HIV. Our working diagnosis was neurosarcoidosis due to the gradual onset of visual disturbance, along with noncaseating granuloma in mediastinal lymph node biopsy.

Table 1: Differential diagnosis for periventricular white matter enhancements on MRI

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The differential diagnosis for noncaseating granuloma includes sarcoidosis, and reaction to drugs, infection, foreign bodies, and tumor antigens; for a comprehensive list [Table 2].^[3],[4] It occurs in 4% of regional lymph nodes with carcinoma, 14% of patients with Hodgkin's disease, 7% of patients with non-Hodgkin's lymphoma, 7% of patients with primary seminoma, and dysgerminoma. Tumor-related granulomas are so similar to sarcoid granulomas and are referred as tumor-related sarcoid reactions.^[3]

Table 2: Differential diagnosis of noncaseating granulomas

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Sarcoidosis is the only condition that can involve periventricular white matter and have noncaseating granulomas. Five percentage of patients with sarcoidosis are classified as neurosarcoidosis which can have involvement of brain parenchyma, hypothalamus, pituitary, cranial nerves (2^nd, 7^th, and 8^th), spinal cord, meninges, or peripheral nerves.^[5] The most common presenting symptoms is cranial neuropathy, particularly facial nerve palsy. Other presentations of neurosarcoidosis include encephalopathy, peripheral neuropathy, meningitis, seizure, spinal cord dysfunction, myopathy, and ocular defects.^[1] Neurosarcoidosis is challenging to diagnose, can cause high morbidity, with cases being refractory to treatment, and associated with high mortality rate of 5–10%.^[6]

Our patient had a rare presentation of ocular neurosarcoidosis which included bilateral optic neuropathy in the right eye and left eye. Manifestation of ocular neurosarcoidosis have been previously reported. In a chart review conducted by Koczman et al., at the University of Iowa, 20 patients were found to have ocular manifestations of neurosarcoidosis.^[7] Average age at onset was 43.1 years and the presentations included optic neuropathy-14, cranial neuropathy-4, Horner's syndrome-1, tonic pupil-1, and optic tract involvement-1. Of the 14 patients presenting with optic neuropathy, symptoms included optic disc edema-8, optic disc pallor-5, and optic disc granuloma-1. In another review by Menezo et al., at the Royal Brompton and Moorfields Eye Hospital, 27 patients were investigated via retrospective review. The most common reported intraocular pathology was uveitis-4 and oculomotor nerve palsies causing diplopia-3.^[8]

The therapy of choice is aggressive high-dose glucocorticoids with a very gradual taper. Ocular involvement has a high incidence of treatment failure. In the study by Koczman et al., only 7 of 20 patients had a stable or improved course, whereas eight had a relapsing and remitting course and five cases were chronic.^[7] Alternative therapies include azathioprine, mycophenolate, cyclophosphamide, methotrexate, cyclosporine, chlorambucil, cladribine, and infliximab among others.^[9],[10] Our patient was treated with high-dose prednisone 1 mg/kg body weight with a gradual taper over 2 years. Visual acuity in her right eye has improved to 20/100 and in her left eye to hand movement. She has remained stable since tapering off corticosteroids.

Conclusion

Neurosarcoidosis is difficult to diagnose, has high rates of treatment failure, significant morbidity, and 5–10% mortality. Our patient presented with ocular neurosarcoidosis, the diagnosis was recognized with the combination of periventricular white matter on MRI and noncaseating granulomas. She had successful treatment with steroids and her vision improved and has remained stable since tapering.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1.	Ginat DT, Dhillon G, Almast J. Magnetic resonance imaging of neurosarcoidosis. J Clin Imaging Sci 2011;1:15.
2.	Eisenberg RL. Skull patterns: Periventricular white matter abnormalities on magnetic resonance imaging. In: Clinical Imaging: An Atlas of Differential Diagnosis. 4^th ed. Philadelphia, PA : Lippincott Williams and Wilkins; 2002. p. 1114-7.
3.	Nanda S, Bhatt SP, Steinberg D, Volk SA. Unusual cause of generalized osteolytic vertebral lesions: a case report. J Med Case Rep 2007;1:33.
4.	James DG. A clinicopathological classification of granulomatous disorders. Postgrad Med J 2000;76:457-65.
5.	Stern BJ, Krumholz A, Johns C, Scott P, Nissim J. Sarcoidosis and its neurological manifestations. Arch Neurol 1985;42:909-17.
6.	Krumholz A, Stern BJ. Neurologic manifestations of sarcoidosis. Handb Clin Neurol 2014;119:305-33.
7.	Koczman JJ, Rouleau J, Gaunt M, Kardon RH, Wall M, Lee AG. Neuro-ophthalmic sarcoidosis: the University of Iowa experience. Semin Ophthalmol 2008;23:157-68.
8.	Menezo V, Lobo A, Yeo TK, du Bois RM, Lightman S. Ocular features in neurosarcoidosis. Ocul Immunol Inflamm 2009;17:170-8.
9.	Agnihotri SP, Singhal T, Stern BJ, Cho TA. Neurosarcoidosis. Semin Neurol 2014;34:386-94.
10.	Lorentzen AO, Sveberg L, Midtvedt Ø, Kerty E, Heuser K. Overnight response to infliximab in neurosarcoidosis: a case report and review of infliximab treatment practice. Clin Neuropharmacol 2014;37:142-8.