Title: Neurosarcoidosis
presenting with lupus pernio and painless vision loss.

 “Right in front of
your face…”

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Authors (mailing
address and emails):

 

Margaret L. Pfeiffer, MD,1,2 Eric. L. Crowell,
MD,1,2 Ore-ofe O. Adesina, MD1,2

 

1 Ruiz Department of Ophthalmology and Visual
Science, McGovern Medical School at The University of Texas Health Science
Center at Houston; 2 Robert Cizik Eye Clinic;

3 Department of Neurology, McGovern Medical
School at The University of Texas Health Science Center at Houston

 

 

Abstract: (will
finish when the paper content in finalized)

 

Keywords: Neurosarcoidosis,
lupus pernio, painless vision loss, noncaseating granuloma, orbital apex mass

 

Introduction: We
present a case of neurosarcoidosis presenting concurrently with cutaneous lupus
pernio (Some case reports don’t include an introduction but rather just an
abstract)

 

Case Report: A
54-year-old African American woman with a history of diabetes and hypertension
presented with a 2-week history of painless left-sided vision loss and a
6-month history of a slow growing cutaneous lesion between the right medial
canthus and nasal bridge (figure 1). Best-corrected visual acuity was 20/25 on
the right and counting fingers on the left with a left relative afferent
pupillary defect. Humphrey visual field automated perimetry (Stim V OD, Stim
III OS; Carl Zeiss Meditec, Dublin, CA) showed peripheral constriction in the
right eye and temporal and superonasal defects in the left eye (figure 2). Anterior
segment and dilated fundus examinations were unremarkable. MRI with contrast
showed irregular, nodular enhancement of both optic nerve sheaths with a 4 x 4 x
2 mm nodular enhancing mass abutting the medial aspect of the left optic nerve
just posterior to the orbital apex (figure 3). There were an additional 3
extra-axial enhancing lesions along the superior margin of the left tentorium,
the medial aspect of the right middle cranial fossa, and the vertex (figure 4).

Workup revealed normal CBC, ANA, ACE level, and lysozyme. CSF analysis showed a
mild lymphocytic pleocytosis with normal glucose and negative cytology (table
1). Punch biopsy of the cutaneous lesion on the nasal bridge revealed noncaseating
granulomas consistent with sarcoidosis (figure 5). CT of the chest showed hilar
adenopathy. A diagnosis of neurosarcoidosis was made. Treatment with 60 mg of
oral prednisone led to rapid improvement of visual acuity to 20/30 in the left
eye, reduction in the size of all of the intracranial masses, including
complete resolution of the orbital apex mass compressing the left optic nerve
(figure 6-8). She was slowly tapered off of steroids over several weeks and has
remained stable on azathioprine as monotherapy.

 

Laboratory Evaluation (Table 1)

CBC: WNL (WBC 8.1, H/H: 13.4/41.9, Plt: 268)

ACE: 25 U/L

Lysozyme: 8.5 ug/mL

ANA: negative

Lumbar puncture:

WBC: 8 (H) Diff: 4 N, 89 L, 7 M)

Glucose: 51

Cytology: negative

 

Discussion: Sarcoidosis
is an idiopathic, multisystem, inflammatory disorder characterized by
granulomatous inflammation predominantly involving the lungs, skin, eye, and
orbit. Globally the highest incidence of sarcoidosis is in northern European
countries (PIETINALHO, SWIGRIS). However, in the United States African
Americans are three times greater than Caucasians to have the disease (35.3 vs
10.9 cases per 100,000) and women are more commonly affected than men (RYBICKI).

The noncaseating granulomas of sarcoidosis are composed of histiocytes, often
coalescing to form multinucleated giant cells, and are surrounded by
lymphocytes (primarily CD4+ T cells), plasma cells and mast cells (SEGAL). Ocular
involvement has been reported in 25-50% of cases (HUNTER) and nervous system
involvement in 5-12% (ROTHOVA, NEWMAN, HEBEL). Neurosarcoidosis can affect any
part of the central nervous system and may present before, after, or with any
other systemic form of sarcoidosis. As with our patient, optic neuropathy may
occur in sarcoidosis from compressive lesions, however, signs and symptoms can
be similar to those found in multiple sclerosis-associated optic neuritis,
orbital inflammatory pseudotumor or optic perineuritis. Patients often present
with rapid decrease in vision in one eye (HUNTER). The presence of isolated
neurosarcoidosis is rare and accounts for only 1% of neurosarcoidosis cases.

When neurosarcoidosis is diagnosed, 88-94% have pulmonary involvement, 37-55% have
ocular involvement, and 30% have cutaneous involvement. (HEBEL). While symptomatic
neurosarcoidosis is present in 5-10% of cases of sarcoidosis, it can be found
in up to 25% of cases of sarcoidosis via postmortem biopsy (HEBEL).

 

Cutaneous lesions associated with sarcoidosis are divided
into specific and nonspecific manifestations of the disease. Lesions specific
to the disease reveal noncaseating granulomas upon histology. While
noncaseating granulomas are specific to the disease, sarcoidosis is a diagnosis
of exclusion and other causes of noncaseating granulomas, such as foreign body
reactions and fungal infections must be ruled out (Mehta). Nonspecific lesions may
present as a panniculitis, most commonly erythema nodosum. These lesions raise
the suspicion of sarcoidosis, and in the case of noncaseating granulomas or
erythema nodosum, are contributory to its diagnosis (MANA, GIUFFRIDA). Lupus
pernio is sarcoid-specific cutaneous manifestation of sarcoidosis. It is
characterized by violaceous, indurated, infiltrative plaques on the central
face, alar rim, nasal tip, or cheeks. 
Lupus pernio and plaques are associated with more severe systemic
involvement and more chronic course, while erythema nodosum is the hallmark of
acute and benign disease, and is associated with a higher rate of spontaneously
resolving disease (MANA). In the case of our patient, lupus pernio was the
first presenting sign and allowed for rapid diagnosis and treatment followed by
resolution of her symptoms. As with our patient, lupus pernio, along with other
cutaneous manifestations of sarcoidosis (excluding erythema nodosum)
disproportionately affects African American women (RYBICKI, BAUGHMAN). Women
are more likely than men to have ocular and neurologic involvement and to
be over the age of 40. (BAUGHMAN, IANNUZZI).

 

Due to the low prevalence and heterogeneity of
neurosarcoidosis, treatment strategies are based on observational case studies
and expert opinion. Corticosteroids are first line treatment (SEGAL, O’CONNEL,
STEPANOVIC) and suppress inflammatory genes, including interferon-gamma (IFN-?)
and tumor necrosis factor (TNF)-alpha, which play important roles in sarcoid
granuloma formation (BEEGLE). Long-term use of oral corticosteroids has many
cautions and relative contraindications, and in the case of our patient could
potentially exacerbate her diabetes mellitus and hypertension (STERN,
WHITWORTH).  Global immune suppressants
can be used as adjunctive therapy to oral steroids to enhance outcomes and
reduce the duration of the steroid taper while minimizing relapse rates.

Azathioprine, methotrexate, hydroxychloroquine, and cyclosporine A have all
been used for this purpose (SEGAL, VARGAS). With proper immunosuppressive treatment,
vision loss related to optic nerve involvement is often reversible.

 

Conclusion: Neurosarcoidosis
can cause vision loss via direct optic nerve sheath involvement and it is
important to consider this entity in the differential diagnosis of enhancing central
nervous system lesions or vision loss in the setting of erythema nodosum or
sarcoidosis specific skin lesions. Prompt identification of systemic
manifestations and biopsy of a skin nodule characteristic of cutaneous
sarcoidosis aided in this patient’s prompt diagnosis and successful treatment.