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Weekday Morning Report

Weekday Morning Report. Subspecialty: Neurology February 26, 2010 Ankur Kalra, MD. HISTORY & PHYSICAL. CASE PRESENTATION. History & Physical. 48 year old African American female Left-sided headache; left-sided weakness History of chronic daily headaches Current headache:

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Weekday Morning Report

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  1. Weekday Morning Report Subspecialty: Neurology February 26, 2010 Ankur Kalra, MD

  2. HISTORY & PHYSICAL CASE PRESENTATION

  3. History & Physical • 48 year old African American female • Left-sided headache; left-sided weakness • History of chronic daily headaches • Current headache: • Insidious in onset • Different in character from headaches in past • Associated with double vision; left sided weakness of the face, arm, and leg • No history of fever, neck stiffness

  4. History & Physical • History of residual weakness from previous cerebrovascular accidents • Current weakness worse than one at baseline • Associated with decreased sensations on left side • No history of bladder or bowel incontinence • No history of seizures • No history of loss of consciousness

  5. History & Physical • Past medical history • Gastroesophageal reflux • Essential hypertension • Migraine headache • Recurrent cerebrovascular accidents in the past (first at age 35 years) • Medication history • Antiplatelet: Aspirin; Dipyridamole • Antihypertensives: Lisinopril; Hydrochlorothiazide; Carvedilol; Amlodipine; Clonidine • Lipid lowering: Simvastatin • Analgesia: Acetaminophen-butalbital-caffeine

  6. History & Physical • Social history • No tobacco, alcohol, or recreational drug use • Family history • Stroke (father, aunts, grandfather) (40s – 50s)

  7. History & Physical • Physical examination • T 97 F • HR 80 beats/min • BP 167/95 – 237/109 – 173/77 mm Hg • RR 18 breaths/min • SaO2 100 per cent on room air • CV: normal first & second heart sounds; no murmurs, rubs, or gallops • RS: normal vesicular breathing; no added sounds • GI: soft; non tender; non distended; bowel sounds present

  8. History & Physical • Neurologic examination • Awake, alert, and oriented to time, place, and person • No dysarthria • Bilateral cranial nerve VI palsy; other cranial nerves intact • Motor strength 4/5 in left upper, and lower extremities • 5/5 in right upper, and lower extremities • Needle prick sensation decreased on the left side • No pronator drift • No dysmetria • Normal affect

  9. INVESTIGATIONS CASE PRESENTATION

  10. Investigations • Hb 11.5 WBC 6.6 Platelet 264 • Na 139 K 3.3 Cl 100 HCO3 27 BUN 14 Cr 0.6 • Glucose 141 • Calcium 9.2 • PT/INR 11.6/1.0 • aPTT 25.8 • Cardiac enzymes negative

  11. Investigations • Chest X Ray No acute cardiopulmonary disease • EKG Normal sinus rhythm • CT Head without contrast • No acute bleed • Mild white matter changes: nonspecific • Largest area of abnormal signal intensity in subcortical matter of right frontal lobe • Recommend diffusion weighted MRI

  12. Investigations • MRI Brain without/with contrast • No acute ischemic event • Mild nonspecific white matter changes • MRA Head & Neck unremarkable • 2 D Echo: moderate concentric LVH; EF 60 – 65% • CT Angiography Head without/with contrast • Minimal irregularity and thickening of proximal basilar artery • MRV Head normal

  13. DIFFERENTIAL CASE PRESENTATION

  14. Differential Diagnosis • Prothrombotic states • Protein C deficiency • Protein S deficiency • Antithrombin III deficiency • Resistance to activated protein C • Prothrombin gene 2021A mutation • Antiphospholipid syndrome • Elevated homocysteine levels

  15. Differential Diagnosis • Inflammatory conditions • Primary vasculitides • Takayasu arteritis • Giant cell arteritis • Polyarteritis nodosa • Primary angiitis • Secondary vasculitides • Collagen vascular disease • Bacterial meningitis • HIV • Syphilis • Tuberculosis • Fungal infection

  16. INVESTIGATIONS CASE PRESENTATION

  17. Investigations • HbA1c 6.3 • TSH 3.54 • ESR 32 mm/hour (high) • CRP 2.20 mg/dL (high) • Immunology • ANA negative • ENA to SSA/SSB negative • ANCA negative

  18. Investigations • Coagulation • Protein C 104 % (normal) • Protein S 102 % (normal) • Activated protein C resistance 3.8 (normal) • Lupus anticoagulant screen • Dilute Russel Viper Venom Time negative • Hexagonal Phase Phospholipid Neutralization negative • Β2 glycoprotein I negative • Prothrombin gene 20210A mutation negative • Factor II mutation negative

  19. Investigations • Infectious Disease • Lyme antibody negative • HIV negative • RPR negative

  20. Investigations • CSF normal protein; no hypoglycorrhachia; no white cells; 58 red blood cells • IgG/albumin ratio High • Lyme antibody nonreactive • Myelin basic protein normal range • Oligoclonal bands absent • VDRL nonreactive • CSF culture No growth

  21. IS THIS A ZEBRA? CASE PRESENTATION

  22. Differential Diagnosis • Metabolic disorders • CADASIL • MELAS • Fabry disease • Menke’s disease

  23. CADASIL Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy REVIEW

  24. CADASIL • Reported worldwide • Prevalence of mutation carriers 1 in 50,000 to 1 in 121,000 • One or more of the following four manifestations: • Ischemic episodes • Cognitive deficits • Migraine with aura • Psychiatric disturbances

  25. CLINICAL FEATURES CADASIL

  26. CADASIL • Clinical features • Ischemic stroke and TIA • Most frequent presentation • 85 per cent of symptomatic individuals • Age at onset 19 to 67 years • Median age 51 years (men); 53 years (women) • Classic lacunar syndromes (pure motor, pure sensory, sensorimotor, dysarthria-clumsy hand) • Ischemic events are recurrent and disabling

  27. CADASIL • Clinical features • Cognitive deficits • Second most common feature • 60 per cent of symptomatic individuals • 75 per cent of mutation carriers develop dementia • Lacunar lesion volume, global brain atrophy, and age independent predictors • Loss of executive function; verbal fluency

  28. CADASIL • Clinical features • Migraine with aura • 30 per cent of CADASIL cases • Early sign • Usually the first symptom with age of onset before 40 • Develop hemiplegic, or basilar migraine; isolated aura • Severity of migraine decreases following first stroke • Difficult to differentiate hemiplegic migraine from an ischemic event

  29. CADASIL • Clinical features • Psychiatric disturbances • 25-30 per cent of patients • Adjustment disorder, depression, panic attacks, hallucinatory syndromes • Key feature: apathy – primary loss of motivation with diminished speech, motor activity, and emotional expression

  30. CADASIL • Clinical features • CADASIL and pregnancy • 40 per cent with neurologic deficits • Initial presentation in pregnancy • Complications include TIA, migraine, and preeclampsia-like symptom complex

  31. NEUROIMAGING CADASIL

  32. CADASIL • Neuroimaging • Magnetic Resonance Imaging (MRI) • Small circumscribed regions isointense to CSF on T1, and T2-weighted images • Less well demarcated T2-hyperintensities of variable size: variable degree of hypointensity on T1-weighted images clearly distinct from CSF • Subcortical white matter, brainstem, subcortical gray matter

  33. CADASIL • Neuroimaging • Magnetic Resonance Imaging (MRI) • Temporal lobe and external capsule hyperintensities • Subcortical lacunar lesions • Cerebral microbleeds • 31 to 69 per cent of patients • Not specific for CADASIL • 2 mm – 5 mm multifocal areas of hemosiderin deposition • Brain atrophy

  34. DIAGNOSIS CADASIL

  35. CADASIL • Diagnosis • Positive family history of stroke and dementia • Typical clinical features • Typical brain MRI • Plus one or both: • Documentation of NOTCH 3 mutation by genetic analysis • Documentation of characteristic ultrastructural deposits within small blood vessels by skin biopsy

  36. CADASIL • Diagnosis • Genetic screening • 80 different mutations • Notch3 transmembrane receptor of (epidermal growth factor) EGF-like repeat domain • 95 per cent missense mutations • Highly stereotyped; involve cysteine residues • 85 per cent exons 2 – 6 • Skin biopsy if genetic screening negative

  37. CADASIL • Diagnosis • Skin biopsy • EM: Granular osmiophilic material (GOM) within vascular basal lamina of arteries, arterioles, and precapillaries • Extracellular domain of Notch3 transmembrane receptor in vascular media

  38. MANAGEMENT CADASIL

  39. CADASIL • Management • General issues • General principles of stroke medicine • Low dose aspirin • Adequate blood pressure control (increased systolic pressure associated with brain atrophy and cerebral microbleeds) • Adequate glycemic control with HbA1c < 7.0 • No role of anticoagulation

  40. CADASIL • Management • Symptomatic therapy • Emotional lability with pathologic crying or laughing – selective serotonin reuptake inhibitors (SSRI) • Migraine headache – nonpharmacologic therapy; NSAID; triptans contraindicated

  41. NOTCH 3 GENE MUTATION GENETIC ANALYSIS RESULTS NEXT WEEK

  42. THANK YOU NEXT PRESENTATION: MARCH 16, 2010

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