patient of myotonic dystrophy presented with celebellar infarction

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  1. 1. Dr. Md Rashedul Islam FCPS, MRCP(UK) Registrar, Neurology, BIRDEM
  2. 2. A 52 years old gentleman, diabetic and hypertensive hailing from Fotullah, Narayanganj got admitted into BIRDEM General Hospital under department of Neurology, on 8th February 2014 with the complaints of : Vertigo for four days Weakness of lower limb for two years.
  3. 3. According to the statement of the patient, he was relatively well four days back. Suddenly he experienced vertigo and unsteadiness. Vertigo was unrelated to change of his position such as bending over or look up. It was associated with nausea and vomiting.
  4. 4. H/O PRESENT ILLNESSH/O PRESENT ILLNESS There was no history of blurring of vision, hearing impairment, tinnitus, aural fullness or aural discharge. On detailed query, he complained that he had been suffering from slowly progressive weakness of the both lower limb for last 2 years, which was more pronounced distally.
  5. 5. H/O PRESENT ILLNESS: Gradually his movement had become clumsy and he was also experiencing weakness in the upper limbs for last 1 year. On further query, patient told that he had difficulty in gripping & releasing any object.
  6. 6. H/O PRESENT ILLNESS
  7. 7. H/O PAST ILLNESS:H/O PAST ILLNESS: Nothing contributoryNothing contributory SOCIOECONOMIC HISTORY: He belongs to a middle class family PERSONAL HISTORY: He is non alcoholic, non smoker.
  8. 8. FAMILY HISTORY He had 2 brothers and 4 sisters. Among them one brother died of heart disease 2 years back at the age of 50 years. TREATMENT HISTORY: Metformin Amlodipin
  9. 9. GENERAL EXAMINATION: Appearance: Expressionless face Frontal baldness present Bilateral partial ptosis Built: average Decubitus: on choice Anaemia Jaundice Cyanosis Absent
  10. 10. GENERAL EXAMINATION: Oedema Dehydration Clubbing Absent Koilonychia Leukonychia Neck vein: not engorged Thyroid: not enlarged Lymphnode: not palpable
  11. 11. GENERAL EXAMINATION: Skin pigmentation & body hair distribution: normal Others: No thickened nerve Pulse: 86 b/min BP: 130/80 mmHg Temp:98 F RR: 16 breaths/min
  12. 12. Higher psychic function : Normal Speech: Hypophonic nasonated voice Cranial nerves : All cranial nerves including both fundi were intact. GCS: 15/15 NERVOUS SYSTEM EXAMINATION
  13. 13. Muscle Rt. UL Lt. UL Rt. LL Lt. LL Bulk reduce d reduced reduced reduced Tone reduced reduced reduced reduced MOTOR FUNCTION:MOTOR FUNCTION:
  14. 14. NERVOUS SYSTEM EXAMINATION After gripping action myotonia wasAfter gripping action myotonia was observed in both handsobserved in both hands Percussion myotonia was presentPercussion myotonia was present
  15. 15. MOTOR FUNCTION:MOTOR FUNCTION:
  16. 16. Refle x B T S K A Ab d Planta r Right N Flexor Left N Flexor
  17. 17. Sensory system: Pain Temp Touc h Vibratio n Positio n sense Right upper limb N N N N N Right lower limb N N N N N Left upper limb N N N N N Left lower limb N N N N N
  18. 18. Sign of Meningeal irritation - Absent Cerebellar sign : Dysdiadochokinesia Past Pointing On right side Nystagmus Intention tremor Heel shin test: not co-ordinated
  19. 19. CARDIOVASCULAR SYSTEM EXAMINATION: Inspection: normal Palpation: Apex beat: on left 5th intercostal space medial to the mid clavicular line. Left parasternal heave: absent P2: not palpable auscultation: S1 & S2 is audible on all four auscultatory area. Murmur: absent
  20. 20. ALIMENTARY SYSTEM: There was no significant abnormalities including gynaecomastia & testicular atrophy
  21. 21. SYSTEMIC EXAMINATIONS Respiratory system: no abnormality detected Genitourinary system:
  22. 22. A 52 years old gentleman, diabetic, hypertensive got admitted with the complaints of vertigo and lower limb weakness. Vertigo was associated with nausea and vomiting without any blurring of vision, hearing impairment, aural discharge. SALIENT FEATURE
  23. 23. SALIENT FEATURE Patient had slowly progressive distal limb weakness over last 2 years, without any H/O pain, tingling, numbness of the limb or alteration of bowel and bladder function. Patient had expressionless face with frontal baldness & bilateral partial ptosis.
  24. 24. SALIENT FEATURE He had hypophonic nasonated speech, reduced Muscle bulk more marked in distal limb and hypotonia. Power was 4/5. Deep tendon reflexes were reduced in all four limbs. Percussion myotonia and grip myotonia was present. Cerebellar sign on right side and ataxic gait was present. Vital signs and all other systemic examination revealed normal findings.
  25. 25. PROVISIONAL DIAGNOSISPROVISIONAL DIAGNOSIS Acute Stroke Myotonic Dystrophy Diabetes Mellitus Type 2 Hypertension
  26. 26. DIFFERENTIAL DIAGNOSIS Paramyotonia Intracranial Space Occupying Lesion in Posterior Fossa
  27. 27. INVESTIGATIONS CBC: Hb % - 13.2 WBC -7000 cu/mm Neu-65 % Lymph- 17.8 % Mono -5.9 % Eosino- 1.1% Platelet- 195000
  28. 28. Lipid profile: TG: 136 mg/dl T. Chol : 122 mg/dl LDL: 55 mg/dl HDL: 40 mg/dl ALT: 28 IU/LALT: 28 IU/L AST: 32 IU/LAST: 32 IU/L CPK- 170 U/LCPK- 170 U/L TSH-1.5MU/LTSH-1.5MU/L S. TEST0STERONE-S. TEST0STERONE- 15NMOL/L15NMOL/L Liver Function test:Liver Function test:
  29. 29. SERUM ELECTROLYTES Na: 141 mmol/l K: 4.8 mmol/l Cl: 108 mmol/l HCO3: 23 mmol/l Ca- 8.9 mmol/l Mg- 0.8 mmol/l Phosphate-2.8 RENAL FUNCTIONRENAL FUNCTION TESTTEST S. Urea: 21 mg/dl S. Creatinine:0.9mg/dl HbA1C- 6.9%HbA1C- 6.9% FBS-6.1FBS-6.1 2ABF-7.32ABF-7.3 2AL-7.82AL-7.8 2AD-7.92AD-7.9
  30. 30. Sugar - Nil Albumin Nil Ketone- Nil Epi. cell: A few /HPF Pus cell: 1-2 /HPF RBC: Nil URINE R/M/E
  31. 31. CHEST X-RAY
  32. 32. ECG Antero-inferior ischemia Ectopic premature ventricular complex RBBB
  33. 33. MRI OF BRAIN
  34. 34. MRI OF BRAIN
  35. 35. MRI OF BRAIN
  36. 36. MRI OF BRAIN
  37. 37. EMG
  38. 38. EMG
  39. 39. EMG
  40. 40. ECHOCARDIOGRAPHY : No RWMA (EF- 60%) Good LV systolic function
  41. 41. DOPPLER STUDY OF NECK VESSELS Normal finding
  42. 42. FINAL DIAGNOSIS: Acute Stroke (Cerebellar) Myotonic dystrophyMyotonic dystrophy Diabetes mellitusDiabetes mellitus HypertensionHypertension Ischaemic Heart DiseaseIschaemic Heart Disease
  43. 43. TREATMENT: Lifestyle modification & Diabetic Diet Aspirin Atorvastatin Ramipril Metoprolol Phenytoin
  44. 44. TREATMENT Patient was counseled about, Course and prognosis of the disease Genetic counseling
  45. 45. FOLLOW UP Patient was advised for follow up in Neurology OPD for clinical evaluation. He was advised for 24 Hours Holter monitoring & possible Electrophysiological Study.
  46. 46. ACKNOWLEDGEMENT : Department of Cardiology Department of Physical Medicine Department of Endocrinology
  47. 47. MYOTONIC DYSTROPHY (REVIEW)
  48. 48. Also called Dystrophia Myotonica (DM) Two autosomal dominant forms have been identified: DM1 and DM2. Unlike other muscular dystrophies because it is a multi-system disorder that presents in a large variety of ways
  49. 49. GENETICS Non coding triplet repeat expansion disease Location- On chromosome 19q, sequence(CTG) in the DMPK gene
  50. 50. CLINICAL PRESENTATION
  51. 51. DIAGNOSIS: Mainly clinical diagnosis Supported by- Electromyography Muscle biopsy Genetic study Others: ECG CPK
  52. 52. WHAT ARE THE EMG FINDINGS? High frequency activity that varies repeatedly to cause a characteristic sound on loud speaker (waxing and waning of motor unit action potential called Dive Bomber Effect)
  53. 53. TREATMENT: There is no specific treatment for myotonic dystrophy. Following are useful for alleviating myotonia. Mexilletine Procainamide Phenytoin
  54. 54. GENETIC COUNSELLING IN MYOTONIC DYSTROPHY The smallest expansions of 50 to 60 repeats are found in older , unaffected, or mildly affected individuals, in topmost generations of the family repeat size rises in the mutation next generation.
  55. 55. MYOTONIC DYSTROPHY & VASCULAR RISKS: It is well known that myotonic dystrophy is associated with the white matter lesion in the brain. There are few case reports of myotonic dystrophy patients presented with ischemic stroke Reference: http://www.ncbi.nih.gov/pubmed/23803495
  56. 56. They are at high risk for arrhythmia and death. A severe abnormality on ECG and a clinical diagnosis of atrial tachyarrhythmia were associated with a 3.5 fold and five fold increase respectively in the risk of sudden death. Reference: http//www.medscape.com/viewarticle/79012
  57. 57. PROGNOSIS: There is no definite prognostic marker Variable penetrance from person to person Life expectancy may be reduced due to pulmonary, cardiac co-morbidity & anaesthetic hazards.

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