Neurologic abnormalities

What is the neurologic system?

Neurology is a medical specialty concerned with studying and treating disorders of the neurologic (nervous) system. The neurologic system includes the brain, spinal cord and all the nerves. It regulates the body's many functions including movement, thought, speech and vision. Physicians who specialize in neurology are called neurologists.

What neurologic abnormalities have been seen in children with PHACE syndrome?

Many neurologic abnormalities have been seen in patients with PHACE syndrome. We are just beginning to understand all of the issues associated with PHACE syndrome, and further research will help to better define the problem areas. Listed below are some examples:

Seizures Stroke - see Cerebrovascular Abnormalities section Cranial nerve weakness
Developmental delay Hemiparesis Poor attention/concentration
Mental retardation Hypotonia Opisthotonus
Neuropsychological deficits Tremor Migraine headache
Language delay Hearing loss Cyclic vomiting syndrome

What are seizures?

The nervous system communicates by sending electrical signals within the brain and between the brain and the nerves in the body. A seizure occurs when a part of the brain sends an abnormal burst of electrical signals which temporarily interrupts the brain's normal function. When children have repeated seizures that are not associated with a specific cause, the condition is called epilepsy. If the brain has either a structural abnormality or was injured during a stroke, the child may be at a greater risk for developing seizures.

Symptoms vary depending on the type of seizure the child experiences. Symptoms may include staring, jerking movements, stiffening of the body, loss of consciousness, difficulty breathing, loss of bowel or bladder control, appearing confused, not responding to noise or words, or head nodding.

How are seizures diagnosed and treated?

Seizures can be diagnosed by history and physical examination. An electroencephalogram (EEG) can be a useful test. It is a noninvasive test in which the electrical activity of the brain is recorded to evaluate for abnormal activity.

The treatment choice varies depending on the type of seizures the child experiences. The goal of seizure treatment is to stop or decrease seizure frequency without harming the child's normal growth and development. Medications are often used to control seizures. There are many different medications available to treat specific types of seizures. If seizure control is not working with medications, there are other treatment options.

What is developmental delay?

Developmental delay is when a child's development lags behind what is considered normal for his/her age; in other words, he or she does not reach developmental milestones at the expected times. In children with PHACE syndrome, the developmental delay may be due to a structural brain abnormality or brain damage from strokes or seizures. Developmental delays can occur in gross motor function (sitting, crawling, walking, drawing), fine motor function (holding a pencil), or language (speaking, reading).

How is developmental delay diagnosed and treated?

When parents notice that their child seems to be slow to learn to perform certain skills such as rolling over, sitting up, crawling, walking, or talking, they should bring this to the attention of their child's pediatrician. Developmental delay may also be noticed by the pediatrician during well-child visits. Depending on the child's deficits, he or she may be evaluated further by a neurologist, neuropsychologist, speech therapist, or other experts in child development to investigate potential causes for his or her delay and better characterize the child's unique needs. Treatment is directed toward each child's individual needs and varies depending on his or her developmental delays. Children with developmental delays may benefit from occupational therapy, physical therapy, or speech therapy interventions.

What is intellectual disability?

Children with intellectual disability (formerly referred to as mental retardation) have below-average intellectual function and also lack the skills necessary for daily living. Unlike developmental delay (where children do reach their milestones eventually), children with intellectual disability have permanent deficiencies in certain areas. Neuropsychological testing provides a formal assessment of a child's cognitive functioning (processing of thoughts and information). This testing can determine whether a child has any cognitive deficits and provide formal assessment of deficits in daily living skills. Additionally, this testing may be helpful in determining a child's special educational needs. Children with intellectual disability may benefit from speech or occupational therapy and may need special educational classes.

What are neuropsychological deficits?

A neuropsychological deficit can be described as an area of cognition (thinking) in which the child is behind other children of the same age and education. Neuropsychological deficits can happen in any area of thinking including language, memory, attention, planning, reading, spelling, math, behavioral inhibition and much more. Testing can determine whether a child has this and provide strategies for potential treatment including behavior modification, parent training, medications, speech therapy and individualized educational plans.

What are stroke and hemiparesis?

A stroke occurs when the blood supply to the brain is disrupted and the nerve cells in that area of the brain are damaged and may die due to lack of oxygen-rich blood (see Cerebrovascular Abnormalities section). Hemiparesis is muscle weakness on one side of the body and can occur in children who have had a stroke which damaged areas of their brain that control muscles and movement. Because of the way muscle control is arranged in the brain, the weakness is seen on the opposite side of the body (contralateral) to where the stroke occurred in the brain. Children with hemiparesis may benefit from physical therapy, occupational therapy and custom made braces for their legs in order to maximize their mobility.

What is hypotonia?

Hypotonia is decreased muscle tone (limpness). Hypotonia is different than muscle weakness, but weakness may be present along with hypotonia. Hypotonia can occur throughout the whole body or be localized to muscles in a certain area. Infants with hypotonia may appear "floppy" since they have poor head and muscle control. Children with hypotonia may have delayed motor skill development, decreased strength, poor posture, drooling, swallowing difficulties, speech impairments and hyper-flexible joints.

How is hypotonia diagnosed and treated?

Patients with hypotonia should have a thorough physical exam with testing to evaluate their motor skills, balance, coordination, reflexes, sensation and nerve function. They may also need imaging tests such as an MRI or CT scan of the brain, an EEG to measure the brain's electrical activity, or an EMG (electromyogram) to evaluate how the nerves and muscles function together. The symptoms of hypotonia can be addressed with physical, occupational, and speech therapies to improve the child's motor skills, strength and speech.

What is opisthotonus?

Opisthotonus is a condition in which a child's body spasms in a posture of extreme hyperextension and stiffness with his or her head and heels arched backwards. This posturing can be triggered by movements such as a caregiver's attempts to hold or feed the child or even by a light touch. This makes it difficult to care for the child or to place him or her in a car seat. This condition is most often seen in children whose brains were without oxygen for a prolonged period of time. It has also been seen in children with Dandy-Walker complex. It can be treated with muscle relaxant medications.

What are migraine-like headaches?

A migraine-like headache is a type of headache characterized by certain symptoms such as light or sound sensitivity, nausea or vomiting, abdominal discomfort or sweating. They can occur occasionally or be recurrent. The average age of onset for migraines in children is 5-8 years old, and there is often a family history of migraines. Children with PHACE syndrome appear to be at an increased risk of migraines, perhaps related to the cerebrovascular abnormalities associated with this syndrome. More research needs to be done to determine the frequency and cause of migraines in children with PHACE syndrome.

How are migraine-like headaches diagnosed and treated?

The diagnosis of a headache is made with a careful history and physical examination. Additional tests such as blood tests, MRI, MRA, or CT scan may be performed to look for the cause of symptoms. Treatments for migraine headaches include resting in a quiet and dark environment, avoiding known triggers, stress management, dietary changes and exercise. Medications may be prescribed by the child's physician to treat the pain (rescue medications), stop headaches in progress (abortive medications) or reduce the number of headaches (preventive medications).

What is cyclic vomiting syndrome?

Cyclic vomiting syndrome (CVS) is characterized by episodes of severe nausea and vomiting that can last from hours to days. These episodes occur in cycles alternating with symptom-free periods of time. CVS is thought to be related to migraines and usually begins in childhood between the ages of 3-7. Episodes of CVS can be triggered by stress, excitement or illness. Continued vomiting can lead to severe dehydration with symptoms of decreased urination, increased thirst, pale skin and fatigue. Children with these symptoms of dehydration should see a doctor immediately.

How is cyclic vomiting syndrome diagnosed and treated?

It is difficult to diagnose CVS because there are no specific tests for CVS. Blood tests and X-rays may need to be done to rule out other diseases that can cause nausea and vomiting. After other conditions are ruled out, the diagnosis of CVS is based on the child's symptoms and medical history.

Vomiting episodes will eventually stop even if untreated. Children with CVS should get adequate sleep and can take medications to prevent vomiting episodes from occurring. Once an episode begins, medications can also be helpful to stop or shorten the episode and relieve symptoms. During an episode, children should rest in bed in a dark, quiet room and take in fluids and electrolytes as tolerated to rehydrate the body. If they have severe nausea and vomiting, they may need to be hospitalized and receive intravenous fluids to prevent dehydration. Data regarding the long-term outcomes in children with CVS is lacking, but many patients eventually recover. Some patients will develop migraine headaches later in life, and more than one-third of children with CVS have vomiting episodes as adults. These patients may need to continue with therapies throughout their life.

What specialists may be involved in a child's care for neurologic abnormalities?

Children with neurologic components of PHACE syndrome may have a care team including a neurologist, neurosurgeon, radiologist, physical therapist, occupational therapist, speech therapist, dermatologist, neuropsychologist and other medical professionals. It is important to find a neurologist with expertise in PHACE syndrome.

What research is being done regarding neurologic abnormalities in PHACE syndrome patients?

A recent publication evaluated a small number of children with PHACE syndrome and did not find that children with PHACE syndrome consistently scored lower than the general population on most developmental tasks, but they did score lower on language tasks. There was a wide range of performance on the tests, and those children who did not perform as well also had more severe physical features of PHACE syndrome. This was a relatively small study, and further research is underway to better characterize the neurologic and neuropsychological impairments seen in children with PHACE syndrome. Results from these studies will be used to allow early identification of any neurologic deficits which may be associated with PHACE syndrome and to guide treatment and therapies.

Useful resources for parents and families:

National Institute of Neurological Disorders and Stroke
Cyclic Vomiting Syndrome Association

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