Transcript Is it rheumatological condition?

Is it really rheumatological ?
S Gupta
Rheumatology Study Day
10th May 2011
Background
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16 years old female.
In the UK for the last 4 years
Originally from the Congo.
1 of 8 siblings
Currently living with 2 older sisters.
Both parents deceased.
Presentation
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To the Ophthalmologists
2 /52 h/o reduced vision in right eye.
Non specific findings
But bloods done inc ACE levels and ESR
Seen 2/52 later in Eye clinic again
Vision further reduced to only 1/60.
Other eye normal
Other features
• Under dermatologist for 2 years for skin
rash
• Skin biopsy- s/o inflammatory cells- 1 yr
ago.
• Massive cervical and axillary
lymphadenopathy
• Low grade pyrexia last 2 weeks
Rheumatology
• Referral to us with ?sarcoidosis ( ACE 127)
Further History
• H/o SOB during exercise elicited and low grade
fever
• No joint symptoms
• No mouth ulcers
• No H/o photosensitivity
• H/o Headaches for last 3 weeks
• No H/o night sweats
Sarcoidosis
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Multisystem inflammatory disease
Lungs + intrathoracic LNs
Non caseating granulomas.
Incidence and prevalence much higher for
African Americans
• Ocular ass with uveitis
• 60% ass with high ACE at diagnosis
Differential Diagnosis
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Sarcoidosis
Malignancy
HIV/ TB- though denied any H/o contacts
Sickle cell anaemia- unusual presentation
at 16
• Optic Neuritis
Investigations
• ACE Level- 127
• ESR- 25
• Hb- 8.7, Hypochromic microcytic anaemia
s/o- iron deficiency
• MRI brain- suggestive of orbital apex syndrome
• HRCT of the chest as a screening for raised
ACE levels
• Lymph node biopsy
MRI report
• Ptosis of the right eye with slight signal change and
enhancement in the right optic nerve. The
extra-ocular
muscles close to the orbital apex also show
enhancement but
the anterior portions show relatively normal
appearance.
There is no mass lesion. The appearance would be
most in
keeping with an inflammatory condition. Multiple
enlarged lymph nodes are seen in the neck.
Further tests
• Immunology tests- all negative except ACE
levels
• Ferritin and TIBC
• Quantiferon
• Mantoux
• Blood film and sickle cell screen
• Lumbar Puncture- negative ( by neurologist)
• Virology screen- negative.
HRCT of chest
HRCT Report
• Bilateral hilar and subcarinal lymphadenopathy with
calcifications. There are multiple scattered nodules
in both
lungs and also pleural based nodules and nodule
within the
oblique fissure. In the left lower lobe there is
bronchiectasis with focal pleural thickening and
linear scarring which appears longstanding.
Overall appearance is consistent with granulomatous
disease.
Progress
• Reviewed repeatedly by Ophthal
• Worsening vision, down to only PL
• Though Diagnosis not confirmed• Decision to start iv MethylPred over 3 days
In view of HRCT
• Discussion with Resp Consultant
• Plan to start Anti TB treatment as on iv
Methylpred
• Rapid improvement in vision within 36
hours
Positive Mantoux
Diagnosis
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Mantoux 30 mm, large blister
Positive Quantiferon. HIV negative
Lymph node- caseating granuloma
Rapid improvement following AKT
An orbital apex syndrome (OAS)
has been described as
• a syndrome involving damage to the
oculomotor nerve (III), trochlear nerve (IV),
abducens nerve (VI),
• ophthalmic branch of the trigeminal nerve
(V1) in
• association with optic nerve dysfunction
• Visual loss and ophthalmoplegia are often
the initial manifestations
Orbital apex syndromes may be
caused by
• Inflammatory- Sarcoidosis
lupus
Churg–Strauss syndrome
Wegener granulomatosis etc
• infectious- Fungi: Aspergillosis, Mucormycosis
Bacteria: Streptococcus spp.,
Staphylococcus spp.,
Actinomycesspp., Gram-negative bacilli,
anaerobes, Mycobacterium
tuberculosis, Spirochetes:
Treponema pallidum
Viruses: Herpes zoster
• neoplastic
• iatrogenic/traumatic
• Vascular processes- sickle cell anaemia
Increased ACE levels may be a sign of sarcoidosis but
also seen in several other disorders
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Active histoplasmosis
Amyloidosis
Asbestosis
Berylliosis
Diabetes
Emphysema
Gaucher's disease
Hepatitis
Hodgkin’s disease
Hyperthyroidism
• Idiopathic pulmonary
fibrosis
• Leprosy
• Lung cancer
• Nephrotic syndrome
• Primary Biliary cirrhosis
• Pulmonary embolism
• Scleroderma
• Silicosis
• Tuberculosis
References
• Orbital apex syndrome, Steven Yeh and Rod Foroozan, (Neuroophthalmology)
• National library of Medicine and National Institutes of Health, USA