1. Is it really rheumatological ? S Gupta Rheumatology Study Day 10 th May 2011

2. 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.

3. 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

4. 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

5. 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

6. 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

7. Differential Diagnosis Sarcoidosis Malignancy HIV/ TB- though denied any H/o contacts Sickle cell anaemia- unusual presentation at 16 Optic Neuritis

8. 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

10. 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.

11. 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.

12. HRCT of chest

14. 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.

15. Progress Reviewed repeatedly by Ophthal Worsening vision, down to only PL Though Diagnosis not confirmed- Decision to start iv MethylPred over 3 days

16. 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

17. Positive Mantoux

18. Diagnosis Mantoux 30 mm, large blister Positive Quantiferon. HIV negative Lymph node- caseating granuloma Rapid improvement following AKT

19. 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

20. 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

21. 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

22. References Orbital apex syndrome, Steven Yeh and Rod Foroozan, (Neuro- ophthalmology) National library of Medicine and National Institutes of Health, USA