Date post: | 08-Jul-2015 |
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Case study (1)
pitfalls in MS diagnosis
Gavin Giovannoni
Institute of Cell and Molecular Science
Barts and The London School of Medicine and Dentistry
Misdiagnoses • PPMS – spinal cord meningioma (MRI)
• SPMS – thoracic disc
• PPMS – HTLV1 myelopathy (Serology)
• RRMS / PMS – Paraneoplastic (PET, biopsy)
• RRMS / MADEM – CNS B cell lymphoma (Biopsy)
• RRMS – migraine / hypertensive small vessel disease
• RRMS – neurovascular syphilis (LP & serology)
• RRMS – MUS / somatisation disorder
• RRMS – NMO
• RRMS – swayback disease
• CIS – CRION
• RRMS - ADEM
• MS – Friedrich’s ataxia
• MS – chronic fatigue syndrome
• Neurosarcoidosis – RRMS (uveitis)
• SLE / Primary APLS - RRM
• Vasculitis - RRMS
• ADEM / MADEM – RRMS
• NMO - RRMS
34-yr old right handed male
• December ‘99 tingling tips of great toes
• April 2000 found to anaemic as a screen during blood donation
• Mild anaemia Hb 11 g/dL, normachromic normocytic anaemia
• VB12 and folate low normal
• Sensory symptoms gradually progressed to involve feet
• Referred to neurosurgeon
• Abnormal MRI
• Referred him to a neurologist
Diagnosis
• Subacute combined degeneration of spinal cord • vB12 supplementation
• No improvement
• Referred to haematologists • Bone marrow showed dysplastic marrow (non-specific)
• VEP’s • Bilaterally delayed (P100 ~ 125msecs)
? Multiple sclerosis
Jan 2002
• Myelopathy – sensory ataxia mild pyramidal signs.
• Optic neuropathy – VA 6/9 & 6/12, abnormal colour vision and pale discs
• Neuropathy – glove and stocking sensory loss with depressed ankle jerks
• FH (adopted)
• Non-smoker, Alcohol 14-21u/week
• Banker working in the city, married, two children
• MRI – C spine signal change had become more extensive
Jan 2002 • Bloods – Hb 8.9 g/dl (microcytic), neutrophils 1.2, platelets 95 • TFTs, U&E, LFTs, ESR, CRP, ANF, vB12, folate, HTLV-1&2, vE, lactate,
pyruvate normal or negative. • Transcobalamin 1, homocysteine and urinary malonic acids normal. • Plasma and urine organic acid profile were normal. • White cell enzymes normal • Iron 3.6 (low), TIBC 90 (45-70), Fe-binding sat. 4% (45-70), ferritin 151
(normal) – important result. • CSF – normal • VEP’s delayed • SEPs abnormal • NCS – absent SNAPs normal motor conduction studies – severe
sensory neuronopathy
Clinical phenotype
• Optic neuropathy – demyelinating
• Myelopathy – motor & sensory
• Sensory Neuronopathy
• Bone marrow dysplasia
• Fe block – unable to mobilise Fe from peripheral stores.
Diagnostic results
• Serum copper = 0.7 umol/L)
• Caeruloplasmin <0.02
• Serum zinc 32.4 umol/L (11-18umol/L)
• Penicillamine challenge – normnal urinary copper excretion
• Zinc toxicity with secondary copper deficiency
Case study (2)
MS mimics or not
Gavin Giovannoni
Institute of Cell and Molecular Science
Barts and The London School of Medicine and Dentistry
• 34-yr old afro Caribbean female presented
with episode of acute myelitis with
quadraparesis
• 3 months later episode of typical left acute
optic neuritis with with 6/60 vision
• MRI brain 2 non-specific white matter lesions
? Multiple Sclerosis
• 34-yr old afro Caribbean female presented with episode of acute myelitis with quadraparesis
• Longitudinally extensive spinal lesion (>3 vertebral segments)
• active CSF with 75 lymphocytes
• -ve OCBs
• MRI brain 2 non-specific white matter lesions
• Poor recovery of next 3 months
• 3 month later episode of typical left acute optic neuritis with with 6/60 vision
• Poor recovery 6/24 after 12 months
• 24 months later Coomb’s positive haemolytic anaemia
• Positive ANF titre of 1:320
• Positive anti-dsDNA