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CASE OF THE MONTH
SHRAWAN
DR MERINA SHRESTHA
RESIDENT 3RD YEAR
IOM
PATIENT’S 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
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.
HISTORY OF PRESENT ILLNESS
contd………
• 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.
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.
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.
• BIRTH HISTORY—FT/S/F/NVD at Home
ante-natal/intra-partum or postpartum period:
Uneventful
• IMMUNIZATION HISTORY: Completed
according to EPI schedule.
• DEVELOPMEENTAL HISTORY:Normal for her
age
• NUTRITIONAL HISTORY: Taking less than
required calorie (70kc/kg/d).
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%
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
Fundus:Normal
Left sided facial palsy ( UMN Type)
MOTOR SYSTEM EXAM…
upper limbs
lower limbs
BULK
Right
N
Left
N
Right
N
Left
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
Lf: Withdrawl
• SUPERFICIAL REFLEX: Normal
• SENSOTY SYSTEM
: Normal
• COORDINATION
: Intact
• GAIT
: Dragging of left foot
• CARDIOVASCULAR SYSTEM;
S1, S2 : Normal No added sounds
• RESPIRATORY SYSTEM:
B/L equal air entry with VBS
• P/A :
soft, no visceromegaly, BS- N
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
CT SACN HEAD
• MULTIPLE
INFARCTS IN B/L
CEREBRAL
HEMISPHERE
• S/O MOYA MOYA
DISEASE
CEREBRAL ANGIOGRAPHY
Poorly opacified intracranial internal
carotid artery and its branches
• 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 510% of all stroke in young (<40 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.
Occlusive vascular disease is slightly more common
(55%) than intracranial hemorrhage (45%)
Ischemic causes:
•
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
• Infective Vasculitis
Pyogenic
Tuberculous
Fungal
AIDS
• Non Infective Vasculitis
SLE
Polyarteritis nodosa
Takayasu arteritis
• Non specific
Moya Moya Syndrome
Trauma
Blunt cervical arterial
trauma
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
Hemorrhagic Stroke
Vascular Malformations
Arteriovenous malformation
Aneurysm
Angiomas
• Hematological
Leukemia
Thrombocytopenia
Hemophilia
• Disseminated intravascular coagulation
• Trauma
• Shaken baby syndrome
• Prematurity
Subependymal hemorrhage
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
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
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 1.8:1.
• Age: 6 months to 67 years, with the highest
peak in the first decade.
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 stenoocclusive areas are usually bilateral, but
unilateral involvement does not exclude the
diagnosis.
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.
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,
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%.
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
CASE STUDY
• A 9-year-old girl, the first born of seconddegree 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.
• 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.
• CBC, ESR , RFT and LFT and Coagulation
profile were normal.
• ANA -negative.
• Screening tests for homocystinuria and porphyria were negative.
• Serology for leptospira was negative.
• Chest x-ray was normal and Mantoux test
was negative.
• Moya moya
collateral in cerebral
angiogram
• 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
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)
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 2000;37: 1005-1009
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.
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
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.
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 artery–middle cerebral artery (STAMCA) 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 .
PROGNOSIS
•
Kim S K et al:Moyamoya disease among young patients: its aggressive clinical
course and the role of active surgical treatment .Neurosurgery. 2004
Apr;54(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, <3 yr of age), Group B (n = 50, 3-6 yr
of age), and Group C (n = 131, >6 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.
• 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.
• 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.
• Stroke. 1984 Sep-Oct;15(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
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