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

• 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

• 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

• 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

• 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 • infectious Wegener granulomatosis etc 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

• 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, (Neuro ophthalmology) • National library of Medicine and National Institutes of Health, USA