Pediatric Orthopedic Surgeons treating Spinal Cavernous Malformations

SPINAL CAVERNOUS MALFORMATIONS

Spinal arteriovenous malformation consists of a tangle of blood vessels on, in, or near the spinal cord. Without treatment, this rare condition can permanently damage the spinal cord

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Spinal Cavernous Malformations

Spinal Cavernous MalformationVascular malformations refer to localized groups of blood vessels that appear abnormal in formation or number. Although they are not malignant, vascular malformations affect blood flow (non-neoplastic). According to studies, doctors believe that most vascular problems are present from birth. Cavernous malformation lesions, however, can appear at any moment during a person’s lifespan and appear to have characteristics similar to cancer. Capillary telangiectasias, cavernous malformations, venous malformations, and arteriovenous malformations refer to the four forms of vascular malformations that doctors see the most frequently.

Cavernous malformations consist of lesions made of enlarged blood vessels that are distinguished by several distended “caverns” of blood-filled vasculatures with very sluggish blood flow. The cavernous malformation lesion’s vessels lack the correct cell connections, elastic material, and smooth muscle support that are required for their structural integrity. Cavernous deformities leak as a result of these characteristics. Clinical signs of the condition are underpinned by bleeding from these vascular lesions. Cavernous malformations appear most frequently in the brain, although they can also occur in the spinal cord, on the skin, and less frequently in the retina.

Origination

CCMs (cerebral cavernous malformations) often originate in the brain’s white matter (cortex). CCM lesions are malformations without any brain tissue in between. The size of CCMs can vary from a few millimeters to several centimeters, and they are dynamic structures that change in size and quantity over time. CCMs make up between 8 to 15% of all brain and spinal vascular malformations, and they are found in around 0.2% of the general population. Even while the number of people with at least one CCM lesion remains high, a sizable portion of those afflicted will go their whole lives without receiving a diagnosis.

Up to 40% of those afflicted will never show any signs of the condition or receive a diagnosis. Most of these people possess just one lesion, no history of the disease in their families, and no genetic mutation. These incidents are known as “sporadic.” The genetic variety of cavernous malformation often causes many lesions, and those who have it may suffer from the disorder’s symptoms. Cavernous abnormalities can afflict people of various ages. Roughly 25% of all people with diagnoses are children. CCM lesions frequently form next to aberrant veins in occasional occurrences.

QUESTIONS AND ANSWERS

What causes spinal cavernous malformations, and does this condition come from a hereditary condition?

Doctors do not know the exact cause of spinal cavernous malformations, and they can occur sporadically. However, evidence suggests a genetic predisposition in some cases. The condition may be hereditary, and a family history of cavernous malformations could increase the risk. Genetic testing and counseling may be recommended to assess the potential genetic component and provide more information about the risk of recurrence.

What are the treatment options for spinal cavernous malformations in children?

Treatment for spinal cavernous malformations depends on factors such as the size, location, and symptoms associated with the malformations. In many cases, especially if the malformation is asymptomatic or causes only mild symptoms, a conservative approach may be taken, with regular monitoring through imaging studies. If doctors consider the symptoms as severe and bleeding appears, doctors may consider surgery to remove or address the malformation. The decision on the course of treatment depends on each individual’s health and the existing malformations.

What are the potential complications and long-term effects of spinal cavernous malformations in children?

Complications of spinal cavernous malformations can include bleeding, which may lead to neurological symptoms such as pain, weakness, or loss of sensation. The long-term effects depend on the severity of symptoms and the success of treatment. With appropriate management, many children with spinal cavernous malformations can lead normal, healthy lives. However, recurrences do occur, and doctors need to continue monitoring to detect any changes or new developments in the spinal cord.

Parents should engage in open communication with healthcare professionals to address their specific concerns about their child’s spinal cavernous malformations. The medical team will provide detailed information about the condition, discuss treatment options, and offer guidance on managing the child’s health and well-being. Regular follow-up appointments should continuel to monitor the child’s condition and adjust the treatment plan as needed.

The doctors at Medical City Children’s Orthopedics and Spine Specialists only treat children.  As such they have become experts in all types of inherited diseases like Spinal Cavernous Malformations

Venous Anomalies

Developmental venous anomalies (DVA), also known as venous malformations or venous angiomas, refer to a kind of vascular abnormality that does not by itself result in any clinical symptoms. The DVA, however, makes surgical intervention more difficult when a CCM lesion is also present since it may produce serious bleeding when disturbed during surgery. Rarely does familial cavernous malformation involve the coexistence of CCMs and DVAs. Because of improved imaging technology in recent years, the clinical and research community agrees that sporadic lesions develop around an aberrant vein or close to a DVA. Rarely, do many random cavernous malformations form a cluster next to an associated DVA. Doctors and scientists do not understand the relevance that DVA has in relation to sporadic lesions.

Symptoms

There are many different symptoms that people with cerebral cavernous malformations might experience. Some afflicted people may not show any symptoms at all, while others may experience headaches or congenital anomalies, such as tremors, memory loss, balance issues, or issues with vision or speech. The most serious signs and symptoms of cavernous malformations include hemorrhagic stroke and epilepsy. Clinical symptoms differ from person to person and depend on the location of the lesion(s) and their tendency to bleed. Symptoms of spinal cord cavernous malformations include tingling, burning, itching, paralysis, numbness, and weakening. Cavernous malformations of the spinal cord can also cause difficulties with bladder and bowel control.

Seizures are one of the most typical signs of a child with cavernous malformation. Epilepsy refers to a person who gets several seizures. With age and frequency, seizures often get worse. Many epilepsy patients take anti-seizure drugs. However, surgical excision of the cavernous malformation will occur for some patients for whom medication becomes unsuccessful for seizure control. Surgery may take place to prevent a lifetime of exposure to anti-epilepsy medicines, even if medication can adequately manage the seizures. Doctors find it difficult to determine which cavernous malformation causes a seizure when a person possesses lots of them.

Cavernous Malformation Causes

Without a clear cause or prior familial history, they form all at once. Developmental venous abnormality, a crooked vein that resembles a witch’s broom, is frequently seen in conjunction with the sporadic form. A genetic type of the condition, however, affects around 20% of those affected (familial cavernous malformation syndrome). The majority of the time, those patients with numerous abnormalities may identify relatives who also possess comparable conditions. Genetic testing will validate the diagnosis of the hereditary type. It’s frequently advised to get genetic testing if patients possess:

  • MRI evidence of numerous CCMs without a DVA
  • A family history of CCMs

Additionally, CCMs may develop 2 to 20 years following radiation to the brain or spinal cord. The rare CCM syndrome may also cause several other disorders.

Diagnosis

The MRI continues to effectively diagnose cavernous malformations. These scans provide precise pictures of the body’s organs and structures using powerful magnets, radiofrequency technology, and computers. Computed tomography scans (commonly known as CAT scans diagnose CCMs as well. These scans provide precise pictures of the bones, muscles, fat, and organs using X-rays and a computer. Angiograms formulate the blood flow, however, because a cavernous malformation causes blood to flow very slowly, they do not appear very effective.

Molecular genetic testing will also confirm the diagnosis of familial cavernous malformation. In most cases with sporadic cavernous malformation, the genetic type has already been ruled out by the isolated lesion and absence of a family history of the condition, hence testing will not help.

Risk Factors

Doctors do not know what causes the rare and uncommon spinal cavernous malformations. Some people possess a family history of cavernous malformations. People who possess cavernous malformations and seek surgical correction will likely reveal multiple abnormalities as compared to those who do not possess the genetic type of the condition. A female parent who possesses the condition has a 50% chance of passing it on to each of his or her offspring, and the underlying mutation passes from one generation to another in an autosomal dominant form. The majority of the remaining instances, sometimes referred to as sporadic cases, lack a genetic basis.

Treatments

The choice to treat a cavernous malformation depends on several factors.  These include the presence of symptoms, the patient’s age, general condition, and the potential dangers of surgery. Finding a cavernous malformation might only occur when routine MRI imaging takes place. Surgery to remove the abnormality happens in situations where it appears big, symptomatic, or undergoes recurring hemorrhages. Surgeons prefer microsurgery to remove cavernous malformations — performed under an operating microscope using extremely fine equipment. Since cavernous malformations do not affect healthy tissue, microsurgical methods are typically sufficient to completely remove them. However, spinal cavernous malformations are intricate lesions that are close to extremely delicate tissues. Treatment of these lesions should take place by specialists like our surgeons who are skilled in these procedures. It also helps to be in a large medical complex like Medical City Children’s Orthopedics and Spine Specialists

Parents of Children with Spinal Cavernous Malformation should bring their kids to Medical City Children’s Orthopedics and Spine Specialists because:

  • Specialized expertise: Medical City Children’s Orthopedics and Spine Specialists has a team of highly skilled, experienced pediatric orthopedic surgeons and spine specialists. The doctors and surgeons specialize in treating children with Spinal Cavernous Malformation.
  • Comprehensive care: Medical City Children’s Orthopedics and Spine Specialists offers a full range of diagnostic and treatment options for Spinal Cavernous Malformation.  Additionally, these include advanced imaging technologies, physical therapy, bracing, and surgical interventions.
  • Family-centered care: Medical City Children’s Orthopedics and Spine Specialists takes a family-centered approach to care.  Furthermore, our doctors work closely with parents and caregivers to develop individualized treatment plans for each child’s unique needs and goals.
  • Support services: Medical City Children’s Orthopedics and Spine Specialists offers a variety of support services for families.  Also, these include social work, child life specialists, and patient and family education resources.
  • State-of-the-art facilities: Medical City Children’s Orthopedics and Spine Specialists is part of a leading medical center with state-of-the-art facilities.  For the record, the doctors and surgeons have the latest technologies to support the diagnosis and treatment of Spinal Cavernous Malformation.

Overall, Medical City Children’s Orthopedics and Spine Specialists with offices in Arlington, Dallas, Flower Mound, Frisco, and McKinney, TX offers comprehensive and specialized care for children with Spinal Cavernous Malformation, with a focus on improving outcomes and quality of life for patients and their families

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Footnote:

National Institute of Health: Spinal Cavernous Malformation

 

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