Moya moya disease

2. Case presentation
By
Dr Farooq Illahi
FCPS PG R2
CMC Children Hospital Larkana

3. case scenario
• 9 years old boy fazal u Rahman weighting 20kg, 2nd issue of
cosanguineous marriage, completely vaccinated and
developmentally up to date ,resident of miro khan admitted
in emergency department of peads unit-1 with the
• P C : Fever for 1 month
• Left side weakness for 15 days
• Fits for 10 Days

4. HOPC
• According to father his child was in usual state of heath one
month back then he developed Fever which was Gradual In
Onset ,Low Grade ,Intermittent in pattern, not documented , no
any special time of occurrence, not associated with ear
discharge , sore throat ,head ache, cough , burning micturition,
loose stools ,vomiting, constipation, pain in right flank ,rashes,
joint pain.
• my patient has also complain of left
sided weakness involving left lower limb first then upper limb,
gradual in onset , static in nature, associated with fits, first time
,tonic clonic in nature , 2 to 3 minutes duration ,4 to 5 times in a
day , associated with difficulty in speech but not associated
with unrolling of eyes ,urinary incontinence, unconsciousness,
,hearing, smelling , vision,swolling,difficulty in closing eyes,
protruding tongue, eating ,sitting and changing clothes .

5. • vomiting, loose stools ,polyuria ,polyphagia ,peri orbital
puffiness ,frothing of urine, jaundice or decrease in school
performance, rashes or marks on face or body, no hx of
trauma , early morning head ache, vomiting,hx of chicken
pox,cyanosis,chest pain during playing, repeated chest
infections, fever with joint pain,hx of repeated stroke
attacks, sever head ache,hx of pica ,swelling of fingers,
repeated transfusions, swelling of hands and legs , no
family history of DM ,HTN,Heart disease or increase
cholesterol ,n0 hx of death before 50 years of age with this
complain.

6. Continued……
After that they visited to a doctor he advsed brain
imaging in the form of CT scan brain and advised
medications in the form of syrups ,attendant don’t
know the names of syrups but each syrup 1tsf x bd
was advised by doctor ,the condition of patient was
static that’s why they move to tertiary care hospital.

7. Systemic Review
• Central nervous system :fits ,weakness , difficulty in
speech .
• GENRAL :Normal appetite, sleep is sound no weight
loss.
• Gastrointestinal system: no hx loose stools
,vomiting,constipation,abdominal pain .
• Genitourinary system : no hx burning micturition,pain in
flanks,poluria ,anuria .
• Chest system : no hx of cough ,chest pain, shortness of
breath .
• Cardiovascular system :no hx of chest pain ,cyanosis,
tachycardia,
• Locomotor system: no hx of jount pain, joint swelling

8. Past medical and surgical hx
• Non significant

9. birth history
• Term
• AGA
• Nvd
• No hx of birth asphyxia

10. Nutritional history
• The total caloric requirement of my patient is
1500kcal/day but due to illness he is eating
1200kcal/day .

11. Family history
• Ther are total 7 family members
• 2nd issue product of consengenious marriage
• He has 4 other siblings all are healthy,
• No such hx is found in family

12. Socioeconomic history
• Belongs to poor socioeconomic status.
• Father is farmer by occupation
• Monthly income is 20000 to 30000 rupess.
• Mother is house wife
• Live in kaccha house
• Drink bore water

13. Drug ans transfusion history
• non significant

14. Case summary
9 years old boy fazal u Rahman weighting 20kg, 2nd issue of
consanguineous marriage, completely vaccinated and
developmentally up to date came with complain of fever for 1
month left side weakness for 15 days and fits for 10 days,
fever is low grade ,gradual in onset, not associated with
chills and riggors,intermitant in pattern,not documented,no
any special time of occurance,15 days back pt also
developed left sided weakness ,involving lower limb first then
upper limb,gradual in onset, static in nature my pt also
developed fits, fits were tonic clonic in nature, 4 to 5
episodes In a day ,2 to 3 mintues duration, fits were observed
first time not associated with uprolling of eye ,urinary
incontinence,unconsciousness .

15. DIFFERENTIAL DIAGNOSIS?????

16. GERNAL PHYSICAL EXAMINATION
• A school going boy lying of a bed with no obvious signs of respiratory distress
or dysmorphic facies NG passed ,cannulated in left hand with following vitals
• VITALS
• Blood Pressure:121/66 mm of Hg(lies below 50th percentile)
• Heart Rate 128beats /mint
• Respiratary Rate 17breaths/mint
• Tempersture Afebrile

17. SUB VITALS
• Anemia -ve
• Jaundice -ve
• Clubbing -ve
• Cyanosis -ve
• Lymphadenopathy not palpable
• Edema -ve

18. Anthropometric measuremenrt
• Height 107cm(below 3rd percentile )
• Weight 20kg( lies at 3rd percentile)

19. ABDOMINAL EXAMINATION:
• Inspection: shape is normal moving with respiration
umbilicus is centrally placed no scar or visible
veins
• Palpation : soft non tender, no viseromeally, ,
bladder is not palpable , hernia orifices were intact.
• Percussion : percussion note was dull .
• Auscultation : Bowel sounds were audible .

20. RESPIRATORY EXAMINATION:
• Inspection: Shape of chest was normal ,type of breathing
abdomino-thorasic ,moving equally with respiration no any scar
mark visible veins .
• Palpation t ,no tenderness, crepitus,treachea was centrally
placed
Apex beat is located at 5th intercostal space medial to mid
clavicle line
• Percussion :upper border of liver was percussed at 6th intercostal
space, percussion note was resonant
• Auscultation : there was bronchial breathing and equal air entry
on both sides of chest, vocal resonance was normal,there was
no pleural rub.
.

21. CARDIOVASCULAR EXAMINATION:
• INSPECTION: Pericardium is normal shaped
without any scar visible pulsations seen
• PALPATION: Apex beat is located at 5th intercostal
space ½ Inch medial to mid clavicle line with
normal character
• AUSCULTATION: S1 S2 Audible with normal
intensity and no added sound or murmur heard

22. CNS EXAMINATION
GCS 12/15
SOMI - VE
CRANIAL NERVES: Intact
SPINE EXAMINATION: normal and bladder not palpable
MOTOR EXAMINATION:
RUL LUL RLL LLL
BULK Normal Normal Normal Normal
TONE Normal Normal increased increased
POWER 3/5 2/5 3/5 2/5
REFLEXES 2+ 2+ 3+ 3+
PLANTARS
CLONUS
Up going
Present
Up going
present

23. Case summary
• 9 years old boy fazal u Rahman weighting 20kg, 2nd issue of
consanguineous marriage, completely vaccinated and
developmentally up to date came with complain of fever for 1
month left side weakness for 15 days and fits for 10 days, fever
is low grade ,gradual in onset, not associated with chills and
riggors,intermitant in pattern, not documented, no any special
time of occurance,15 days back pt also developed left sided
weakness ,involving lower limb first then upper limb,gradual in
onset, static in nature my pt also developed fits, fits were tonic
clonic in nature, 4 to 5 episodes In a day ,2 to 3 mintues
duration, fits were observed first time not associated with
uprolling of eye ,urinary incontinence, unconsciousness ,on
examination he is vitally stable with signs of upper motor neuron
are appreciated in the form of increased tone ,power, deep
tendon reflexes with up going planters and clonus are present .

24. DIFFERNTIAL DIAGNOSIS?????

25. •INVESTIGATIONS

26. CBC
Parameter Result Normal Range
HEMOGLOBIN 111.7g/dl 11.5 – 15.5
HEMATOCRIT 36.4% 36 - 45
RBCS 4.27X10E9 /L 04 – 5.2
MCV 85.2ft 77 - 95
WBCS 10.1X10 E/L 5 - 13
NEUTROPHILLS 62.4% 40 - 75
LYMPHOCYTES 29% 25 - 45
ESINOPHILLS 1.9%ft 1 - 6
PLATELATES 661X10 E9/L 180 -400

27. SERUM ELECTROLYTES AND
LIVER FUNCTION TEST:
Parameter Result Normal Range
SODIUM 138mg/dl
POTASSIUM 4.9mg/dl
CHLORIDE 100mg/dl 0
BI CARBONATE 25U/L
CALCIUM 9.6U/L
SGPT 26U/L <55

28. RENAL FUNCTION TEST:
TEST RESULTS NORMAL RANGE
S.CREATININE 0.4mg/dl 0.9 – 1.3
S.UREA 23mg/dl 17-49

29. INFLAMMATORY MARKERS:
Test Results Normal range
C-REACTIVE PROTEIN <0.12 1 - 10

30. ULTRA SOUND ABDOMEN

31. CHEST X RAY
This is chest x ray PA view
with intact costeophernic and
cardiopherenic angles
,trachea is centrally placed

32. LIPID PROFILE

33. ECHOCARDIOGRAPHY

34. SERUM FERRITIN
23.5ng/ml (22 – 322)

35. HB ELECTROPHOROSIS
HB A 96.9%
HB A2 3.10%

36. BLOOD
CULTURE(PRELIM
REPORT)
CANDIDA LUITANTIAE

37. Work up for Auto immune
ANA is positive

38. HOMOCYCTYENE
5.99 (5 – 12umol/ )

39. CT SCAN BRAIN

40. MRI BRAIN AND MRA WITHOUT
CONTRAST

41. AT FOLLOW UP

42. FINAL DIAGNOSIS
• MOYAMOYA DISEASE

43. PEDIATRIC STOKE
• A Pediatric stroke can be classified by the type,age
at which occurred, and the vessels involved.
• The three primary types are arterial ischemic
stroke ,cerebral sinovenousthrombosis and
hemorrhagic stroke.
• Within literature pediatric stroke is also classified
by number of vessels and type of arterial territory
involved.

44. ARTERIAL ISCHEMIC STROKE
• In children arterial ischemic stroke is also comman sub
type,accounting for just over half of all stroke.
• Ischemic stroke is defined as sudden infarction of brain
tissue diagnosed by neuroimagingor at autopsy,and can
result in arterial ischemic strokeor venous infarction.
• An arterial ischemic stroke can occur when there is
sudden occlusion of one or more cereberal arteries.

45. • CEREBRAL SINOVENOUS THROMBOSIS Is
defined by thrombosis of superficial and deep venous
system.
•
• HAEMORRHAGIC STROKE
• Is the result of bleeding
from reputered cerebral artery or bleeding into site of
acute ischemic stroke.
• Haemorrhagic stroke can induce intracerebral
haemorrhagic or less commonly sub acchanoid or
intraventricular haemorrhage.

46. Perinatal stroke
• Where diagnosis occurred or is presumed to have
occurred between 28 weeks gestation and 8 days of life
or
• Childhood stroke
• which is defined by stroke occurring
between 29 days and 18 years of ahe.

47. Delayed presentation causes
• Childhood stroke is often overlooked by health care
professionals.
• Limited stroke awareness in pediatric population.
• The high frequency of stroke mimics.
• The diversity of prenting symptoms.
• The difficulty in examination and identifictionof
subtle symptoms in young children.
• Delayed access to diagnostic
neuroimaginexpertise.

48. Clinical presentation
• Clinical presentation of pediatric stroke varies
depending upon stroke type,vessels involved,and
child age.variation in clinical presentation is cited
as factor in missed or delayed.
• The International pediatric stroke study (IPPS)
• describes the presenting features of 676 children
diagnosed with arterial ischemic stroke.
• 80% presented wih hemiparesis.
• 51% presented with speech disturbance.
• 52% with altered conciousn
• 40% with head ache and 31% with seizures.

49. History
• Motor deficit
• Wekness of one half of body /any part of body.
• Isi it a vascular event?? ( arterial/vascular)
• Onset
• very sudden onset seconds embolic
• just sudden mintues haemorrhagic
• slowly sudden hours thrombotic
• gradual demylination
• Duration
• P site, static/progressive,max onset with rapid recovery (embolic)max
at onset with static phase (hemorrhagic).min at onset with slow max
at presentation (thrombotic).

50. History…….
• R relapse and remission
• A Associated symtoms .
• Cranial nerves involvement
• Any hx of double vision/change in vision,hearing
,smell,taste,facial deviation,drooling,change in
voice,/hoarness,nasal/regurgitation,hoking on
feeds.
• Sensory involvement
• Hx of tingling ,numbness or altered sensation in
any limb.

51. HX
• BASAL GANGLIA : movement disorder
• Thalamus : necrolapsy
• Area of postrema:nausea,vomiting, hiccups
• Spinal card : urinary or bowel dysfunction,sensory
loss.

52. Questions regarding DD
• ARTERIOPATHY
• INFECTIONS: Hx of fever ,head ache ,vomiting,fits,ASOS,neck
pain.
• PAST VARICELLAANGIOPATHY: hx of fever ,flu and rash.
• TRAUMATIC CAROTID/VERTIBERAL ARTERY
DISSECTION:
• hx of trauma to head and neck.
• SEC TO VASCULITIS:skin rashes /nodules/joint
pain/hematuria /HTN/lower limb swelling,oral ulcers
• MOYA MOYA :recurrent head ache,epilepsy,MR,focal
abrupt deficit

53. cardiac
• Sob,palpitation,orthopenia,body swelling,hx of cyanotic
episodes,hx of any surgery
• Hematological:
• paloor,patechie, bruises,bleeding from an
site,,need for blood transfusion.
• Neurocutenous syndromes:
• any mark on body

54. Metabolic
• MELAS: hx of developmenetal
regression,mayoclonic jerks
• MMA/PA : Episodes of encephalopathy,abnormal
movement ,ID,SEIZURES
• HOMOCYSTENURIA:visual
issue,ID,seizures,skeletal abnormalities.
• FABRYS:skin rashes ,acropresthesia and catract

55. VENOUS INFARCTION
• Csvt:
• head ache,vomiting,visual problems
otitis media,dental abcess,pharyngitis.
• Sepsis ,dehydration
• Demylination gradual onset, can rapidly .
• progressive, relapse and remitting course,
• Alternating hemiplegia of childhood.

56. • past hx
• Birh hx
• Detailed developmental hx
• Medication hx
• Socioeconomic hx

57. examination
• Introduction ask the childs age , name , school(
any dysplasia,intellectual impairement)
• Inspection posture,asymmetry of limbs( growth
arrest),tall complexation,skeletal deformity (
homocysteneuria)or hemineglect
• Gait gait movement +fog test will detect subtle
hemiplegia
• Motor bulk , tone ,power
,reflexes,planters,superficial abdominal reflexes.

58. Examination
• Detailed cranial nerve involvement
• ECOM H
• Pupillary reflexes
• CNVII
• Bulbar involvement (xi,x)
• asymetric shoulder shrugging xi
• Tongue deviation xii
• Check visual field

59. Continued…..
• Cortical sensation LOCALIZATION
• asterognosis : ( unable to recognize key in hands)
• apraxia :
(show me ho you you bursh your teeth )
• Higher centers : names of body parts
• show watch and ask what is this ? A cat ,
dog .
• If CN AND HMF intact
• Examine spine and sensation

60. GPE AND Relevant
• Pallor ,petechae, bruises,neurocutenous
stigmata,joints
• Cvs exam including clubbing
• Bp ,carotid bruit
• Abd :liver and spleen.

67. stroke mimcs
• Status epilepticus
• Todds paesis
• Acute raised intracranial pressure
• Traumatic brain injury
• Central nervous system infection
• Demylinating disorders
• Complicated migraine
• Post infectious cerebellitis

68. Investigations
• Neuroradiology: CT/MRI followed by angiograph
/venography
• Cariac :ECG,CXR,ECHO
• Hematological CBC,PT,APTT,PROTIEN C,S ,AT
III,peripheral film or HBE
• Immune panel
• Carotid Doppler
• Supportive where indicated:culturesCSF
C/E,glucose ,metabolic screening

69. ACUTE SUPPORTIVE CARE
• Most crucial : mismatch between supply and demand
• Early identification of ischemia prevents infarction.
• Vigorous neuroprotctive care
• Normotension,normothermia,seeizures
control,normoglycemia,isonatermia,
• Early identification and management of cerebral
edema especially large territory and posterior fossa
stroke
• No evidence to support therapeutic hypothermia or
prophylactic anticonvulsant.

70. Antiplatelates versus anti
coagulation
• Prevents acute reinfarction
• American stroke associatonguidlines state that
anticoagulation with low molecular heparin or
unfractionated heparin may be considered for upto
1 week after stroke if dissection
dvasculopathy,unrecognized heart disese or
significant hypercoagulability are not yet ruled out.
• The united kingdom royal collage of physicans
recommends asprin in the initial period and
anticoagulation if extracracranialarterial
dissection is confirmed.

71. cause based treatment
• Sick cell :exchange tansfudion
• CNS angitis ; immunomodulators,pulse therapy
• MOYA MOYA ;surgical intervention

72. Chronic treatment
• The risk of recurrence varies widely by cause from
6% to 40% for all the childs upto66% 5
years.AISrecurrence on children with documented
arteriopathy.
• Three available guidelinesrecomend
anticoagulation for secondary ischemic prophylaxis
if ther is confirmed dissectionsource,or certain
thrombophilias with the duration of treatment
depends upon the condition .
• Asprin (3 to 5mg/kg/day ) is reasonable for all
conditions in secondary stroke prevention.

73. •THANKS………