is it really rheumatological ?
DESCRIPTION
Is it really rheumatological ?. S Gupta Rheumatology Study Day 10 th May 2011. Background. 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. - PowerPoint PPT PresentationTRANSCRIPT
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Is it really rheumatological ?
S GuptaRheumatology Study Day
10th May 2011
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Background
• 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.
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Presentation
• 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
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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
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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
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Sarcoidosis
• 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
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Differential Diagnosis
• Sarcoidosis• Malignancy• HIV/ TB- though denied any H/o contacts• Sickle cell anaemia- unusual presentation
at 16• Optic Neuritis
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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
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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 inkeeping with an inflammatory condition. Multiple
enlarged lymph nodes are seen in the neck.
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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.
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HRCT of chest
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HRCT Report• Bilateral hilar and subcarinal lymphadenopathy with
calcifications. There are multiple scattered nodules in bothlungs 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.
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Progress
• Reviewed repeatedly by Ophthal• Worsening vision, down to only PL• Though Diagnosis not confirmed-
• Decision to start iv MethylPred over 3 days
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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
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Positive Mantoux
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Diagnosis
• Mantoux 30 mm, large blister• Positive Quantiferon. HIV negative• Lymph node- caseating granuloma• Rapid improvement following AKT
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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
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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
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Increased ACE levels may be a sign of sarcoidosis but also
seen in several other disorders • 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
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References• Orbital apex syndrome, Steven Yeh and Rod Foroozan, (Neuro-
ophthalmology)
• National library of Medicine and National Institutes of Health, USA