Case presentation:
A 27-year-old woman presented to our Rheumatology department with the
complaint of periorbital swelling for the past five months. Prior to
coming to our clinic, she presented to the Neurology department of one
of our allied hospitals, Benazir Bhutto Hospital with a complaint of
drooping of eyelids for the last three months where she was presumed to
be a case of MG on the basis of positive anti-acetylcholine receptor
antibodies. She was given a therapeutic trial of pyridostigmine but she
failed to respond to the treatment and was referred to our rheumatology
clinic for an autoimmune workup.
The periorbital swelling was gradual, bilateral, and had progressed to
the degree that the patient could not lift open her eyelids and had to
open them with her fingers to be able to see. Figure 1 shows the extent
of her ptosis and eyelid swelling. It was not associated with any pain,
redness, discharge, loss of vision, or diplopia. Upon systemic inquiry,
she complained of undocumented weight loss, productive cough for the
past three months, dry gritty eyes, dry mouth, hair loss, and a
photosensitive facial rash. There was no significant family history of
disease other than her father who was treated for tuberculosis 10 years
back.
On clinical examination, our patient had periorbital puffiness with
closed palpebral fissures, there was no redness or discharge, and she
had normal extraocular eye movements. There was no assessable
lymphadenopathy and none of the salivary glands were palpable. On oral
examination, Schirmer test was positive with less than five mm tear
production in five minutes which is suggestive of dry eyes. On
respiratory examination, bilateral coarse crepitations were heard. Her
neurological examination was unremarkable and muscle strength and
endurance in all muscle groups was normal which was in contrast to the
symptoms of MG. We could not perform all the provocative maneuvers for
ocular MG (sustained upgazed, Herring’s sign, peek sign) because of
marked eyelid swelling that impaired lifted the eyelids. There was no
fatigable diplopia. The rest of the systemic examination was normal.
Peripheral blood test results were as follows: hemoglobin 14.0 g/dl,
total leucocyte count 14000/mm3, neutrophils 70.2%,
lymphocytes 25.1%, mixed 5.7%, red blood cells 4.21
million/mm3, platelets 223000/mm3,
hematocrit 38.9%, erythrocyte sedimentation rate 44mm/hour, C-reactive
protein 4.1 mg/L, Serum biochemical testing results were as follows:
serum urea 3.0 mmol/L, serum creatinine 55 umol/L, serum sodium 137
mmol/L, serum potassium 4.6 mmol/L, alanine aminotransferase 15 U/L,
alkaline phosphatase 86 U/L, total bilirubin 0.4 mg/dl. The
results of her autoimmune workup are displayed in Table 1 . Repetitive
nerve stimulation showed no significant decremental or incremental
response which helped rule out generalized myasthenia gravis but not
ocular myasthenia.
We proceeded with a High-Resolution Computed Tomography (HRCT) scan of
her chest which revealed bilateral cylindrical bronchiectasis involving
all lung lobes, consolidation in the right lower lobe, and mild pleural
effusion. PCR was negative for COVID-19, sputum for Gene Xpert, and
QuantiFERON TB gold test were also negative. Sputum culture revealed
heavy growth of Candida and Klebsiella Pneumoniae. Magnetic Resonance
Imaging MRI of the brain and orbits revealed bilateral symmetrical
homogenous enlargement of lacrimal glands with accompanied symmetrical
swelling and edematous changes in bilateral pre-septal and para-septal
soft tissues. Figure 2 shows these MRI images prior to commencing
therapy .
We considered primary Sjogren syndrome, systemic lupus erythematosus as
she gave a history of a photosensitive facial rash, ocular myasthenia
with idiopathic orbital inflammation as she gave a history of ptosis and
periorbital inflammation, sarcoidosis, ANCA associated vasculitis and
IgG4 related orbital pseudotumor as our differential diagnoses. We had
ruled out SLE, sarcoidosis, ANCA associated vasculitis on the basis of
autoimmune investigations all of which were negative for corresponding
antibodies. Myasthenia Gravis was ruled out on the basis of
electrodiagnostic studies. As she tested positive for Anti SSA
antibodies, we proceeded with a lip biopsy to confirm the diagnosis of
primary Sjogren’s syndrome and to rule out IgG4-related disease. The lip
biopsy indicated normal-looking mucinous acini with lymphocytic
infiltrate. There were four microscopic foci of lymphoid aggregates per
4 mm2, with no evidence of plasma cells and fibrosis
(hence ruling out IgG4-related disease), suggestive of primary Sjogren
syndrome (pSS). Figure 3 shows the histopathological images of her
lip biopsy .
Pulmonology consultation was sought and she was started on an
antibiotic cover to control infective pulmonary etiology prior to
beginning immunosuppressive treatment for pSS. The patient was advised
Acetylcysteine, Azithromycin 250mg for three months along with Influenza
and Pneumococcal vaccine. After her chest infection subsided, we started
her on Hydroxychloroquine 200 mg/day, Azathioprine 2.5 mg/kg/day, and
Prednisolone 0.5 mg/kg/day. Cyclophosphamide was deferred because we
believed it would worsen her bronchiectasis. The patient was referred
for an ophthalmology consultation for her persistent eyelid swelling and
the consensus was to control her primary disease process which would
ultimately resolve her swelling. As the persistent swelling was
hampering her ability to see, she underwent a sling procedure to open
her eyelids. Figure 4 shows an image of the patient after her
sling procedure . Though the swelling had considerably subsided on
therapy, her lacrimal gland were persistently inflamed, we shifted her
towards a biological agent Rituximab, 1g IV infusion. She has received
two doses and the next dose is scheduled for after 6 months.