CASE OF THE MONTH SHRAWAN

1
CASE OF THE MONTHSHRAWAN

• DR MERINA SHRESTHA
• RESIDENT 3RD YEAR
• IOM

2
PATIENTS PROFILE

• NAME SHARMILA MAJHI
• AGE 6 YEARS/F
• ADDRESS MAKAWANPUR
• DATE OF ADMISSION 062/4/12
• DATE OF DISCHARGE 062/4/32
• ADMITTING DX ACUTE STROKE
  SYNDROME
• FINAL DX MOYA MOYA DISEASE

3
HISTORY OF PRESENT ILLNESS

• Sudden onset of weakness of left side of the body
  and deviation of face towards right for 1 day.
• Mild headache for 4 days.
• The weakness was non-progressive.
• No H/O drooling or difficulty in swallowing or
  speech difficulty
• No H/O fever, vomiting,ear discharge,
  sore-throat.
• No H/O altered sensorium, visual disturbance,
  loss of consciousness or abnormal movements of
  the body.

4
HISTORY OF PRESENT ILLNESScontd

• No H/O SOB, palpitation.
• No H/O bleeding from any site, rash, bone or
  joint pain or swelling in any part of the body
• No H/O high colored and decreased urine output.
• No H/O trauma or any pencil injury.
• No H/O intake of any medicine.

5
HISTORY OF PAST ILLNESS

• Similar episode of sudden onset of weakness 5
  months back _ Right side of the body.
• Was admitted at KCH for 2 days and discharged and
  was referred to Nutritional rehabilitation
  center.
• Resolved spontaneously in period of a month and
  was doing well since then.

6
FAMILY HISTORY

• Father 25years/ painlter
• Mother 23years/ House-wife
• Siblings Elder 10 years/F
• Younger 3years/F
• No H/ O similar illness/ TB in the family or in
  close contacts.
• No H/O consanguinity of marriage.

7

• BIRTH HISTORYFT/S/F/NVD at Home
  ante-natal/intra-partum or postpartum period
  Uneventful
• IMMUNIZATION HISTORY Completed according to EPI
  schedule.
• DEVELOPMEENTAL HISTORYNormal for her age
• NUTRITIONAL HISTORY Taking less than required
  calorie (70kc/kg/d).

8
ON EXAMINATION

• Child looks comfortable and Alert.
• Vitals Pulse 90/min
• R/R 24/min
• B.P 90/40 mm Hg
• Temp 98.60C
• No pallor, icterus, rash, lymphadenopathy,edema,
• Phakomas or any joint swelling or bony
  tenderness
• ENT Examn Normal
• Anthropometry
• HT 101cms (93)
• WT 13kgs (72) GRADE
  II PEM
• WT/HT 86

9
CNS EXAMINATION

• Conscious, cooperative and alert
• Oriented to time , place and person.
• Memory Intact.
• Speech Normal
• No signs of meningeal irritation
• CRANIAL NERVES
• Pupils B/L equal and reacting to light
• FundusNormal
• Left sided facial palsy ( UMN Type)

10
MOTOR SYSTEM EXAM

upper limbs upper limbs lower limbs lower limbs
Right Left Right Left
BULK N N N N
TONE N Less N Less
POWER 5/5 2/5 5/5 3/5
DTJ N slight Increased N slight Increased
Plantar RT Withdrawl RT Withdrawl Lf Withdrawl Lf Withdrawl

11

• SUPERFICIAL REFLEX Normal
• SENSOTY SYSTEM Normal
• COORDINATION Intact
• GAIT Dragging of
  left foot

12

• CARDIOVASCULAR SYSTEM
• S1, S2 Normal No added sounds
• RESPIRATORY SYSTEM
• B/L equal air entry with VBS
• P/A
• soft, no visceromegaly, BS- N

13
PROV. DX ACUTE STROKE SYNDROME

• INVESTIGATIONS
• CBC
• Hb 12 gm
• Platelet 120,000/cmm
• TC 5000/cmm P- 58, L-
  40
• ESR 20 mm/ 1st hour
• PBF Normocytic Normochromic
• Mantoux test Negative

14
CT SACN HEAD

• MULTIPLE INFARCTS IN B/L CEREBRAL HEMISPHERE
• S/O MOYA MOYA DISEASE

15
CEREBRAL ANGIOGRAPHYPoorly opacified
intracranial internal carotid artery and its
branches
16

• Stroke is defined as the abrupt or ictal onset of
  focal or global neurologic symptoms caused by
  ischemia or hemorrhage within or around the brain
  resulting from diseases of the cerebral blood
  vessels.
• Annual incidence of cerebral infarction in
  children, all over the world, varies between 1.2
  per 100,000 to 2.7 per 100,000.
• less than 1 of all pediatric admissions and
  5-10 of all stroke in young (lt40 years)
• The two primary pathophysiologic features of
  cerebrovascular disease are interruption of blood
  flow to part of the brain or rupture of blood
  vessels with bleeding into the cerebral
  parenchyma.

17
Occlusive vascular disease is slightly more
common (55) than intracranial hemorrhage
(45)Ischemic causes

• Infective Vasculitis
• Pyogenic
• Tuberculous
• Fungal
• AIDS
• Non Infective Vasculitis
• SLE
• Polyarteritis nodosa Takayasu arteritis
• Non specific
• Moya Moya Syndrome
• Trauma
• Blunt cervical arterial trauma

• Heart Diseases
• Congential heart disease
• Rheumatic heart disease Infective
  endocarditis
• Complication of surgery
• Hematologic Disorders
• Thrombocytosis
• Polycythemia
• Leukemia
• Antithrombin 3, Protein C and Protein S
  deficiency

18
Ischemic causes contd.

• Oral foreign bodies injuring the carotid artery
• Hereditary Metabolic
• Homocystinuria
• Mitochondrial myopathy, encephalopathy,
  lactic acidosis and stroke like episodes (MELAS)
• Toxic
• Phencyclidine
• Methamhateminne
• Phenylpropanolamine
• Cocaine

19
Hemorrhagic Stroke

• Vascular Malformations
• Arteriovenous malformation
• Aneurysm
• Angiomas
• Hematological
• Leukemia
• Thrombocytopenia
• Hemophilia
• Disseminated intravascular coagulation
• Trauma
• Shaken baby syndrome
• Prematurity
• Subependymal hemorrhage
•  

20
STANDARD EVALUATIONS

• Complete blood count , platelet and coagulation
  profile
• LFT
• Electrolytes, BUN, and creatinine, Glucose 
• Total protein, Uric acid 
• Calcium, phosphate 
• Cholesterol, triglycerides 
• Electrocardiogram 
• Carotid duplex studies

21
Optional tests

• Lumbar puncture
• Imaging studies
• Magnetic resonance angiography
• CT angiography
• Tc-99m HMPO SPECT
• Collagen vascular screen Rheumatoid factor
• Antinuclear antibody Lupus anticoagulant

• Protein C and protein S
• Antithrombin 3
• Other
• VDRL/HIV
• Blood cultures
• Urinalysis
• Lactate/pyruvate levels

22
MOYA MOYA DISEASE

• First described in Japan in the 1960s by
  Takeuchi. The term refers to something hazy,
  just like a puff of cigarette smoke drifting in
  the air.
• The disease has since been found in the United
  States, Europe, Australia, and Africa .
• Sex The female-to-male ratio is 1.81.
• Age 6 months to 67 years, with the highest
  peak in the first decade.

23
Definition

• It is a rare, progressive cerebrovascular
  disorder characterized by the narrowing or
  occlusion of major blood vessels leading into the
  brain, and the formation of abnormal blood
  vessels called moyamoya vessels.
• (ie "puff of smoke") characterizes the
  appearance on angiography of abnormal vascular
  collateral networks that develop adjacent to the
  stenotic vessels. The steno-occlusive areas are
  usually bilateral, but unilateral involvement
  does not exclude the diagnosis.

24
PATHOLOGY

• Intimal thickening in the walls of the terminal
  portions of the internal carotid vessels
  bilaterally which contain lipid deposits.
• The anterior, middle, and posterior cerebral
  arteries that emerge from the circle of Willis
  may show varying degrees of stenosis or occlusion
  with fibrocellular thickening of the intima,
  waving of the internal elastic lamina, and
  thinning of the media.
• Numerous small vascular channels can be seen
  around the circle of Willis. These are
  perforators and anastomotic branches. The pia
  mater also may have reticular conglomerates of
  small vessels.

25
Causes of MOYA MOYA D/S

• Primary
• strong hereditary predisposition among
  Japanese pop.
• gene is mapped on short arm of Ch 3.
• Secondary(Moya Moya Syndromea)
• Infections Tuberculosis
• Leptospirosis
• Hematologic disorders
• Aplastic anemia,
• Fanconi anemia,
  
• sickle cell anemia,

26

• Congenital syndromes
• Apert syndrome
• Down syndrome
• Marfan syndrome,
• tuberous sclerosis,
• Turner syndrome,
• von Recklinghausen disease,
• Hirschsprung disease
• In a case series of patients at Hospital of Sick
  Children, Toronto , the most common association
  was seen with Neurofibromatosis accounting for
  54.

27
Moya Moya has been reported with Down,s syndrome
as well. Bhalala
Utpal S, Parekh Pankaj R
Moyamoya
syndrome in a child with down syndrome

Indian Journal of PediatricsYear 2005   
Volume 72 
  Issue 7    Page 635-637 

• Vascular dysplasia may lead to a structural
  defect which forms the basis for Moyamoya
  disease. It is believed that several proteins
  encoded on chromosome 21 are associated with an
  increased risk of vascular disease.
• Another mechanism increased prevalence of
  autoimmune disorders
• Upper cervical subluxation can also produce a
  cerebral circulatory insufficiency that
  predisposes to development of Moyamoya disease

28
CASE STUDY

• A 9-year-old girl, the first born of
  second-degree consanguineous parents, presented
  with a sudden onset of inability to move the left
  upper limb and a limp while walking. The onset
  was preceded by an episode of giddiness and
  blurring of vision, which lasted for 2-3 hours.
  The weakness evolved over a period of 12 hours
  and when she was brought to the hospital, she had
  dense left hemiplegia and left sided upper motor
  neuron facial palsy.

29

• Clinical course was marked by rapid improvement,
  and her muscle power improved to 4/5 (MRC
  grading) by the fourteenth day of hospital stay.
  Examination of the skin revealed large
  hypopigmented and hyperpigmented areas all over
  the body. Active skin lesions were suggestive of
  atopic eczema. The lesions did not follow any
  photosensitive pattern of distribution. Nail
  dystrophy was present, hair was sparse and
  seborrheic dermatitis of scalp was present.

30

• CBC, ESR , RFT and LFT and Coagulation profile
  were normal.
• ANA -negative.
• Screening tests for homocystinuria and por-phyria
  were negative.
• Serology for leptospira was negative.
• Chest x-ray was normal and Mantoux test was
  negative.

31

• Moya moya collateral in cerebral angiogram

32

• Magnetic resonance angiogram revealed partially
  filled up circle of Willis on the left side and
  occlusion of the circle of Willis on the right
  side with extensive collaterals

33
Four types have been described

• Hemorrhagic type with subarachnoid bleeding
• Epileptic type with repeated seizures
• Infarct type with permanent paresis
• Transient Ischemic attack characterized by
  recurrence. (most common)

34
Clinical features

• Children may have hemiparesis, monoparesis,
  sensory impairment, involuntary movements,
  headaches, dizziness, or seizures. Mental
  retardation or persistent neurologic deficits may
  be present.
• Chorea may be the only presenting feature.(Indian
  Pediatrics 200037 1005-1009

35
DIAGNOSIS

• CT / MRI head to be done as the early diagnostic
  modality.
• Cerebral angiography is the criterion standard
  for diagnosis. The following findings support the
  diagnosis
• -Stenosis or occlusion at the terminal
  portion of the internal carotid artery or the
  proximal portion of the anterior or middle
  cerebral arteries
• -Abnormal vascular networks in the vicinity
  of the occlusive or stenotic areas
• -Bilaterality of the described findings.

36
TREATMENT

• Pharmacologic therapy for MMD is disappointing.
  Therapy is directed primarily at complications of
  the disease
• If intracerebral hemorrhage has occurred, then
  management of hypertension (if present)
• In cases of severe stroke, intensive care unit
  (ICU) monitoring is indicated until the patient's
  condition stabilizes.
•   If the patient has had an ischemic stroke,
  consider anticoagulation or antiplatelet
•  

37
TREATMENT contd..

• The rationale behind anticoagulation and
  antiplatelet agents is to prevent further
  strokes, especially in stenotic vessels where
  further infarction can occur if occlusion
  progresses.
•         These medications are not approved by
  the Food and Drug Administration (FDA)
  specifically for use in MMD, so the decision to
  treat with anticoagulants, ie, heparin (and in
  some cases, warfarin for long-term
  anticoagulation), or antiplatelet agents (eg,
  aspirin) rests on the following angiogram
  findings, severity of stroke, and risk/benefit
  analysis by physicians who are experienced in
  stroke treatment.

38
SURGICAL MANAGEMENT

• Patients who present for treatment while
  symptoms are evolving have a better prognosis
  than those who present with static symptoms
  (which probably indicate a completed stroke).
• Various surgical procedures have been used
• superficial temporal arterymiddle cerebral
  artery (STA-MCA) anastomosis,
• encephaloduroarteriosynangiosis (EDAS),
• encephaloduroarteriomyosynangiosis (EDAMS),
• omental transplantation.
• All of these operations have in common the
  concept of a blood and oxygen starved brain
  reaching out to grasp and develop new and more
  efficient means of bringing blood to the brain
  and bypassing the areas of blockage .

39
PROGNOSIS

• Kim S K et alMoyamoya disease among young
  patients its aggressive clinical course and the
  role of active surgical treatment .Neurosurgery.
  2004 Apr54(4)840-4 discussion 844-6.
• A total of 204 patients with MMD who underwent
  encephaloduroarteriosynangiosis, were categorized
  into three groups according to their ages at the
  time of surgery, i.e., Group A (n 23, lt3 yr of
  age), Group B (n 50, 3-6 yr of age), and Group
  C (n 131, gt6 yr of age). For each group,
  patterns of presentation and the occurrence of
  subsequent preoperative or surgery-related
  infarctions were assessed. Clinical outcomes and
  postoperative hemodynamic status were analyzed.

40

• RESULTS
• At initial presentation, infarctions were
  significantly more frequent in Group A (87) and
  Group B (58) than in Group C (46). Subsequent
  preoperative infarctions occurred significantly
  more frequently in Group A (39) than in Group B
  (6) or Group C (0.8). The median interval
  between the onset of symptoms and a subsequent
  preoperative infarction was 3 months (range, 1-14
  mo). No significant difference in the rates of
  surgery-related infarctions among the three
  groups was observed. The rate of favorable
  clinical outcomes was significantly lower in
  Group A (58) than in Group B (84) or Group C
  (86), although the rates of postoperative
  hemodynamic improvements were similar among the
  groups. The poor clinical outcomes for Group A
  were caused mainly by preoperative infarctions.

41

• CONCLUSION Young-age MMD demonstrates rapid
  disease progression and results in poor clinical
  outcomes. These findings indicate the necessity
  of early surgery for young patients with MMD
  however, the actual benefits should be verified
  with additional controlled studies, with
  long-term follow-up monitoring.

42

• Stroke. 1984 Sep-Oct15(5)873-7.
• Intelligence in children with moyamoya disease
  evaluation after surgical treatments with special
  reference to changes in cerebral blood flow.Ishii
  R et al.
• The effect of surgical treatment upon the
  intelligence of 20 children with moyamoya disease
  was evaluated and related to changes in cerebral
  blood flow (CBF). The patients were treated by
  various surgical revascularization procedures
• The degree of reduction in the intelligence
  quotient (IQ) correlated well with the age of the
  patients the older patients revealed a more
  marked reduction of IQ, and the patients with
  lower intelligence scores in general showed a
  tendency for more marked depression of mean CBF.
  Postoperatively, most of the patients showed
  increase in IQ, especially in performance IQ
  which improved significantly in 10 patients,
  remained unchanged in 3 and deteriorated in 2.
  Mean CBF increased by an average of 11.4, and
  postoperative changes in mean CBF correlated well
  with the changes in IQ in most patients. This may
  show that the postoperative increase in CBF is
  quite possibly responsible for the changes in
  IQ.

43
THANK YOU