1 / 45

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:

albert
Download Presentation

Weekday Morning Report

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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

More Related