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Case report

Case report. מרכז רפואי סורסקי מחלקה נוירולוגית. CASE REPORT. בן 28, רווק, ללא ילדים ימני מוצא- אשכנזי עובד בסופר פארם. מחלות רקע.

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Case report

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  1. Case report מרכז רפואי סורסקי מחלקה נוירולוגית

  2. CASE REPORT • בן 28, רווק, ללא ילדים • ימני • מוצא- אשכנזי • עובד בסופר פארם

  3. מחלות רקע • גיל 7 : קשיים מוטוריים, רעד בתנועות מכוונות, הפרעה בהליכה+ סימנים צרבלריים בבדיקה ( דיסמטריה במבחן אצבע- אף ועקב- ברך יותר משמאל , GAIT ATAXIA, דיסארטריה+ אטרופיה צרבלרית בבדיקת MRI מח. • אבחנה: CEREBELLAR DYSGENESIS • לפני 12 שנים - מאורע פתאומי של כאבי ראש, מצב בלבולי וחולשה בגפה עליונה ( לא זוכר צד)

  4. תלונות בקבלתו • בחילות, הקאות • כאבי ראש • מצב בלבולי • הפרעות בדיבור • רדימות וחולשה ביד הימנית

  5. מחלה נוכחית • מצבו השתפר כעבור שעה- חולשה ורדימות ביד הימנית חלפו, • חום- 38.3 במיון, במחלקה- 36.7 • מצב בלבולי חלף כעבור כשעתיים מתחילת המאורע • כאבי ראש נמשכו יותר מ 30 שעות

  6. בדיקה גופנית ונוירולוגית • בדיקה גופנית -תקינה • בדיקה נוירולוגית ( בקבלתו) : מצב בלבולי, דיסארטריה, דיספזיה, דיסמטריה בביצוע מבחן אצבע- אף ועקב- ברך יותר משמאל, GAIT ATAXIA שאר הבדיקה – תקין

  7. בדיקות עזר • בדיקות מעבדה- ספירת דם, אלקטרוליטים- תקינים. • שתן תקין, TOXICOLOGIC SCREENING- שלילי • א.ק.ג- ב.מ.פ • צילום חזה- ב.מ.פ • EEG ( למחרת): איטיות טמפורו- אוקציפיטלית קלה לא קבועה מימין

  8. בדיקות עזר • CT מוח ללא חומר ניגוד: ללא דמם טרי,ללא ממצא מוחי מוקדי • ניקור מותני: נוזל צלול, שקוף, לחץ פתיחה 150, סוכר 61, חלבון 45, WBC 0, RBC 28( טריים) נשלח CSF FOR PCR HSV

  9. מה אבחנה מבדלת ? SUBARACHNOIDHEMORRHAGE HSV PCR - NEGATIVE TIA ? MENINGOENCEPHALITIS ? הוחל טיפול ב ASPIRIN SEIZURES? לא נצפו התקפים , ללא עליית CPK MIGRAINE?

  10. Hemiplegic migraine • Sporadic • Familial :with cerebellar signs and without cerebellar signs

  11. Familial hemiplegic migraine • Familial hemiplegic migraine (FHM) - autosomal dominantly inherited subtype of migraine with aura, where attacks are associated with some degree of motor weakness (Headache Classification Committee of the International Headache Society, 1988).

  12. FHM • The hemiparesis during the aura- was never isolated • it was always associated with sensory, language, or visual disturbances: The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal CalciumChannel, NEJM

  13. FHM • linkage to chromosome 19p13 (Joutel et al., 1993) • identification of several causative missense mutations in the CACNA1A gene on this chromosome (Ophoff et al., 1996), that account for 50% of FHM families (Ducros et al., 2001).

  14. FHM • The mean age among affected was 37 years • The mean age at onset was 11.7± 8.1 years • 87% no longer had attacks after the age of 50 years. • In FHM, motor aura symptoms are obligatory A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria ,Brain,2002

  15. FHM • sensory aura (98%) • visual aura (89%) • aphasia (72%) • 69% had co-occurrence of BM • A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria ,Brain,2002

  16. FHM • A mild degree of confusion or somnolence –21% • 35%- attacks with bilateral signs • dysphasia - irrespective of the side of hemiparesis • The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal CalciumChannel, NEJM

  17. MOTOR AURA • 59%-HEMIPARETIC DISTRIBUTION • 41%- NON-HEMIPARETIC • 98%-MOTOR + SENSORY( SAME PARTS OF BODY) • Mean gradual progression time of the motor aura symptoms - 27 min • The mean duration of the motor aura symptoms - 5 h 36 min • A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria ,Brain,2002

  18. Motor aura • Hand-98% • Arm-93% • Foot-59% • Leg-59% • A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria ,Brain,2002

  19. SENSORY AURA • The mean gradual progression time of the sensory aura symptoms - 32 min • the mean duration - 3 h 43 min • HAND( 99%)> ARM( 98%)> FACE( 85%)> TONGUE ( 83%)> FOOT( 68%)> LEG ( 67%)> BODY( 35%) • A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria,Brain,2002

  20. VISUAL AURA • The mean gradual progression time - 16 min • Flickering light -89 % • Scotoma -79 % • Zig–zag lines (fortification )-50 % • Starts in periphery of the visual field -49 % • The mean duration - 1 h 40 min • A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria ,Brain,2002

  21. Characteristics of headache in HM • Unilateral -46% ( males), 56%( females) • Pulsating -81%, Pressing/tightening - 19 % • Moderate/severe -96 % • Duration - 241–1440 min (65 %) • Accompanying symptoms –Nausea, Vomiting, Photophobia, Phonophobia A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria ,Brain,2002

  22. APHASIC SYMPTOMSAND OTHERS SPEECH DISTURBANCES • Problems in the production of language- 96 % • Problems in understanding what other people say -10 % • Problems finding the right words -66 % • Problems articulating speech -92 % • The mean duration - 3 h 7 mi • A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria ,Brain,2002

  23. Basilar migraine and FHM • Basilar-type symptoms experienced by 101 of 147 patients with familial hemiplegic migraine • Definite brainstem symptoms : Diplopia- 51 % , Decreased hearing-48% ,Crossed symptoms-1% • A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria ,Brain,2002

  24. BM AND FHM • Bi-cortical and/or brainstem symptoms:  Dysarthria-73%,  Loss of balance-72%,  Vertigo-72%,Bilateral visual symptoms-53% , Switching from one side to the other-34%,  Decreased level of consciousness-31% , Tinnitus-29%, Drop attacks-22% Bilateral paresis and/or paresthesia-11% The BM symptoms during FHM attacks were typically (88%) reported during the end of the aura A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria ,Brain,2002

  25. FHM WITH CEREBELLAR SIGNS two sub forms of FHM families exist: • pure FHM in 80% • FHM families with cerebellar symptoms in 20%. The latter all have a mutation in the CACNA1A gene on chromosome 19p13.

  26. FHM WITH CEREBELLAR SIGNS • The most frequent sign - nystagmus( 20%) • Gait ataxia - the second most frequent sign • Other autosomal dominant neurologic disorders have been associated with distinct types of mutations in CACNA1A:Episodic ataxia type 2, spinocerebellar ataxia type 6

  27. FHM • No subject had permanent motor, sensory, language, or visual symptoms • The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal CalciumChannel, NEJM

  28. Genetics of FHM • CACNA1A - is located on chromosome 19 and encodes the 1A subunit of voltage-gated P/Q-type calcium channels in neurons • familial hemiplegic migraine with cerebellar signs has been linked to mutations in CACNA1A in all families studied • Pure hemiplegic migraine has been associated with mutations in CACNA1A –50%, 20%-a locus has been mapped on chromosome 1

  29. Mutations in CACNA1A Causing Hemiplegic Migraine.

  30. Familial hemiplegic migraine type 2: ATP1A2 • ATP1A2, encoding the α2 subunit of sodium-potassium pumps • Two novel missense mutations in the ATP1A2 gene confirmed these results: one mutation was identified in a small family with pure FHM, the second one in a large FHM family with benign familial infantile convulsions (BFIC)

  31. Predicted transmembrane model of the Na+,K+-ATPase α2 subunit

  32. Sporadic hemiplegic migraine • Some of them might be the first 'FHM patient' in the family because of a new mutation • the greater part seem to have no mutation in any of the known FHM genes, defining sporadic hemiplegic migraine (SHM) as an heterogeneous disease

  33. DIFFERENTIAL DIAGNOSIS transient ischaemic attack (TIA) • by the gradual development and progression of aura symptoms in contrast to the instant onset of symptoms in TIA (Fisher, 1980). • Progression from one aura symptom to another strongly supports a migraine diagnosis. • the sensory and sometimes the motor symptoms disappeared in the same order as they appeared (i.e. the aura symptom that appeared first also disappeared first). Theoretically, this would be the opposite in TIA and stroke

  34. DIFFERENTIAL DIAGNOSIS Epilepsy may mimic FHM when there is a Jacksonian march and post-ictal paresis and headache. • duration of the gradual progression of the aura symptoms is 60 min on average, which is never seen in epilepsy • visual symptoms almost always accompany the paresis, which almost never happens in epilepsy.

  35. SPORADIC HEMIPLEGIC MIGRAINE WITH CEREBELLAR SIGNS

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