Understanding Moyamoya Syndrome: How a 20-Year-Old Overcame Seizures Through Innovative Surgery

In the realm of neurological disorders, epilepsy is often associated with head trauma or genetic predisposition. However, not all cases follow this pattern. This article explores a compelling medical case involving a 20-year-old male whose seizures were caused not by injury but by a rare cerebrovascular condition known as Moyamoya syndrome. After experiencing severe headaches and sudden seizure episodes, advanced imaging revealed abnormal blood vessel formation in his brain. With timely diagnosis and a specialized surgical intervention—specifically, an intracranial bypass procedure—the patient achieved full control over his symptoms and returned to normal life. His story highlights the importance of early detection and multidisciplinary treatment for rare vascular diseases.

Case Overview

Patient Profile: Male, 20 years old

Diagnosis: Moyamoya Syndrome (Moyamoya disease)

Hospital: The Third People's Hospital of Hubei Province

Date of Admission: October 2020

Treatment Plan: Intracranial artery bypass surgery combined with pharmacological therapy including injectable phenobarbital sodium, diazepam injection, oral valproate sodium extended-release tablets, and rivaroxaban tablets

Treatment Duration: 10-day hospitalization followed by one month of outpatient follow-up

Outcome: Significant improvement; seizure activity fully controlled, headache symptoms resolved

Initial Consultation: When Headaches Signal Something Serious

The patient arrived at the clinic accompanied by his parents, who expressed concern about his declining academic motivation and frequent complaints of headaches. Initially dismissed as stress-related or laziness, the young man's persistent head pain turned out to be far more serious than anyone suspected. He described the pain as sharp and stabbing, often so intense that it disrupted his ability to attend classes. While he had experienced occasional headaches since childhood, their frequency and severity had increased dramatically over recent months.

During the physical examination, clinicians noted several red flags: the patient was significantly overweight (160 kg at 175 cm), with elevated blood pressure measuring 140/90 mmHg. Given a family history of hypertension, doctors recommended immediate neuroimaging and metabolic screening, including a head CT scan and tests for lipid and glucose levels, to rule out underlying cerebrovascular issues.

Diagnostic Breakthrough: From Sudden Seizure to Definitive Diagnosis

While awaiting test results, a critical event occurred—an emotional outburst from the patient's parent triggered a sudden collapse. The young man fell to the ground, exhibiting rhythmic contractions in his right leg, twitching around the right eye and mouth—classic signs of a generalized tonic-clonic seizure.

He was rushed to the neurology emergency unit where intravenous diazepam and phenobarbital sodium were administered promptly. Within five minutes, the seizure subsided, and consciousness returned. However, he continued to report left-sided headaches, prompting further investigation.

Advanced Imaging Reveals the Hidden Cause

A follow-up brain CT showed no structural abnormalities, but continuous EEG monitoring detected epileptiform discharges, confirming ongoing seizure activity. To explore potential vascular causes, a CT angiography (CTA) was performed. The results were striking: both middle cerebral arteries appeared severely narrowed, with tiny collateral vessels forming a tangled network resembling "puff of smoke"—a hallmark of Moyamoya syndrome.

This rare progressive disorder involves the gradual occlusion of major cerebral arteries at the base of the brain, leading to the development of fragile, compensatory microvessels. Without proper blood flow regulation, patients are at high risk for ischemic strokes, hemorrhages, and seizures—exactly what this patient was experiencing.

Treatment Strategy: Combining Medical and Surgical Approaches

Following confirmation of Moyamoya syndrome, the treatment plan shifted toward long-term stabilization. Anticoagulation therapy with rivaroxaban was initiated to reduce stroke risk, while valproate sodium was prescribed to manage seizure recurrence. Once stabilized, the patient underwent intracranial-extracranial (EC-IC) bypass surgery—a delicate procedure that connects a scalp artery (usually the superficial temporal artery) directly to a brain artery (middle cerebral artery) to restore adequate blood supply.

The surgery was successful, with postoperative imaging showing improved cerebral perfusion. Notably, after the procedure, the patient experienced no further seizures, marking a turning point in his recovery journey.

Recovery and Follow-Up: A Return to Normal Life

During his 10-day hospital stay, the patient experienced three additional seizure-like episodes, which were managed through dose adjustments of valproate sodium. Repeat EEGs later confirmed normalization of brain wave patterns. One month into outpatient care, he reported near-complete resolution of headaches and resumed full-time university studies without cognitive impairment or seizure relapse.

His mother expressed deep regret for not seeking help earlier, believing the symptoms were merely psychological or stress-induced. In response, the medical team emphasized that Moyamoya syndrome is exceptionally rare and often misdiagnosed due to its non-specific early symptoms like chronic headaches. They stressed that digital subtraction angiography (DSA) remains the gold standard for definitive diagnosis, though CTA and MRA are effective screening tools.

Post-Treatment Care Guidelines for Long-Term Success

To support sustained recovery, the patient received comprehensive lifestyle recommendations:

• Maintain a balanced diet rich in protein, fiber, fruits, and vegetables while minimizing salt, fat, and spicy foods
• Stay well-hydrated and avoid extreme temperatures in food and drink
• Practice seasonal wellness habits such as dressing warmly during weather changes to prevent colds
• Avoid activities that increase intracranial pressure, including forceful coughing or straining during bowel movements; use mild laxatives if needed
• Manage emotional health by avoiding anger, anxiety, or depression through mindfulness or counseling
• Strictly adhere to prescribed antiepileptic medications under physician supervision—no missed doses or self-discontinuation
• Schedule regular neurological check-ups to monitor progress and adjust treatment as necessary

Clinical Insights: Why Early Recognition Matters

Moyamoya syndrome predominantly affects children and young adults, with peak incidence before age 10 and again in the 20s–30s. Although its exact cause remains unclear, genetic factors play a significant role, particularly in Asian populations. Chronic headaches are frequently the first symptom, often mistaken for migraines or tension-type headaches. As the disease progresses, patients may develop transient ischemic attacks (TIAs), motor deficits, or seizures—making prompt evaluation essential.

Each seizure episode inflicts neurological damage, reinforcing the need for rapid intervention. Moreover, early diagnosis via vascular imaging allows for timely revascularization surgery, which can halt disease progression and prevent irreversible brain injury. This case serves as a powerful reminder: when headaches become persistent and debilitating, especially in young individuals, deeper investigation could be lifesaving.

By raising awareness and improving access to advanced diagnostics, healthcare providers can ensure better outcomes for patients with rare but treatable conditions like Moyamoya syndrome. Timely action doesn't just change lives—it preserves them.