Is it really rheumatological ?

S GuptaRheumatology Study Day

10th 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  inkeeping  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  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.

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 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 • 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