Patient: [Patient Name]
MRN: [Medical Record Number]
Date: [Date of Encounter]
Chief Complaint:
New or follow-up for Moyamoya disease
(Specify) Symptoms may be absent in early stages.
With progressive stenosis (narrowing) of blood vessels at the base of the brain:
Headaches (often progressive, throbbing)
Seizures
Weakness or numbness (usually one-sided)
Speech or language difficulties
Cognitive decline (memory problems, difficulty concentrating)
Movement problems (clumsiness, difficulty walking)
Transient ischemic attacks (TIAs) – brief episodes of neurological dysfunction due to temporary blockage of blood flow
History of Present Illness:
Onset, duration, and severity of symptoms.
Frequency and characteristics of headaches (if present).
History of seizures or TIA-like episodes (if present).
Functional limitations due to symptoms.
For established Moyamoya disease:
Response to previous treatment (medications, surgery).
Progression of symptoms.
Past Medical History:
Underlying conditions that may increase risk (uncommon):
Down syndrome
Neurofibromatosis type 1
Sickle cell disease
Radiation therapy to the head
Family History:
Family history of Moyamoya disease (rare)
Medications:
List all current medications, including medications for headaches, seizures, or blood flow.
Social History:
Not typically relevant for Moyamoya disease.
Physical Exam:
Neurological exam: Assess for:
Weakness or numbness
Speech or language difficulties
Coordination problems
Visual field deficits (inability to see in certain areas)
Fundoscopy (examination of the retina): May reveal retinal hemorrhages in severe cases.
Laboratory Tests:
Complete blood count (CBC): May be normal.
Basic metabolic panel (BMP): May be normal.
Hypercoagulability testing (to assess for blood clotting disorders) may be considered in some cases.
Imaging Studies:
Magnetic resonance angiography (MRA): The gold standard for diagnosing Moyamoya disease.
It visualizes blood vessels and identifies narrowing or occlusion at the base of the brain.
Magnetic resonance imaging (MRI): May show evidence of strokes or other brain abnormalities caused by insufficient blood flow.
Assessment:
Moyamoya disease: Based on clinical presentation (symptoms suggestive of progressive cerebral ischemia), neuroimaging findings (MRA showing characteristic stenosis), and consideration of any potential underlying causes.
Disease severity: Can be categorized based on the extent of stenosis, presence of symptoms, and imaging findings of prior strokes.
Differential Diagnoses:
Consider other conditions that can cause similar symptoms, such as:
Migraine headaches
Stroke
Brain tumor
Carotid artery disease (less common in children)
Plan:
Treatment: The goal is to improve blood flow to the brain and prevent strokes. Options include:
Medical management: Medications to prevent blood clots (antiplatelet agents, anticoagulants) and to control blood pressure.
Revascularization surgery: Surgical procedures to create bypass channels for blood flow to bypass the blocked vessels (may be performed in stages).
The choice of treatment depends on various factors, including:
Disease severity
Presence and type of symptoms
Age and overall health of the patient
Follow-up: Regular follow-up with clinical evaluation and neuroimaging (MRA) to monitor disease progression and treatment response.
Consultations: Referral to a neurologist with expertise in cerebrovascular diseases and potentially a neurosurgeon is recommended for diagnosis, treatment planning, and long-term management of Moyamoya disease.
Education:
Educate the patient about Moyamoya disease, the cause of symptoms, treatment options, and the importance of follow-up.
Discuss potential risks and benefits of treatment options.
Provide information about managing risk factors for stroke (healthy diet, exercise, smoking cessation if applicable).
Address the potential impact of the disease on daily life and offer support resources.