Department of Neurology | Conditions and Treatments

Acute Disseminated Encephalomyelitis (ADEM)

Acute Disseminated Encephalomyelitis (ADEM) involves a brief but intense attack of inflammation (swelling) in the brain and spinal cord that damages the brain's myelin. Myelin is the protective

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Acute Transverse Myelitis

Acute Transverse Myelitis (ATM) involves a brief but intense attack of inflammation (swelling) in the spinal cord that damages myelin. Myelin is the protective covering of nerve fibers. Myelin is also

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Anencephaly

Overview Anencephaly is a condition present at birth that affects the formation of your baby's brain and the skull bones that surround her head. Anencephaly results in only minimal development of the

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Aneurysms

Angiogram showing a high-resolution view of an aneurysm. Sometimes the wall of an artery in the brain develops a weak spot, and the vessel bulges outward. This is known as a cerebral aneurysm.

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Apert Syndrome

What is Apert Syndrome? Apert syndrome, also known as acrocephalosyndactyly, is a genetic disorder characterized by deformities of the skull, face and limbs. Apert syndrome may include:

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Apnea of Prematurity

Overview Apnea refers to what happens when a child doesn’t breathe for more than 20 seconds. It is more common in premature babies than in full-term babies. The more premature the baby, the greater

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Attention Deficit and Hyperactivity Disorder (ADHD)

Is your son a constant bundle of energy … always moving, unable to sit still, even for a few moments? Is your daughter easily distracted and forgetful, tending to frequently “have her head in the

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Atypical Teratoid Rhabdoid Tumor (ATRT)

Having a tumor in the brain or spinal cord is always a very serious matter. An atypical teratoid rhabdoid tumor is an aggressive tumor of the central nervous system. If your child has been diagnosed

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Autism Spectrum Disorder

What is autism spectrum disorder (ASD)? What does it mean if a child is “on the spectrum”? Can autism be treated? Will my child always have it? What supports can help our family? While there’s

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Autoimmune Diseases

If it weren’t for the immune system—the human body’s natural defense against outside invaders—we would be sick all the time. This complex network of cells, organs and molecules fights off things like

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Anaplastic Astrocytoma

Overview Astrocytomas are tumors that arise from brain cells called astrocytes, which are a type of glial cell. An anaplastic astrocytoma is a high-grade (malignant) glioma, originating from the glial

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Bacterial Meningitis

Overview Meningitis is an infection that causes inflammation of the three thin layers of tissue, known as meninges, which cover the brain and spinal cord. Meningitis may be caused by a virus or by

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Bedwetting (Nocturnal Enuresis)

Nocturnal enuresis, better known as bedwetting, occurs when a sleeping child cannot hold his or her urine at night. Don't worry—most of the time the situation resolves on its own. Some children don't

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Birth Defects and Congenital Anomalies

A birth defect is a health problem or a physical abnormality that a baby has at birth. It can be very mild or severe. Some birth defects are life-threatening, in which case a baby may only live for a

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Bowlegs

Children with bowlegs, when standing straight with toes pointed forward, have ankles that touch but knees that do not. Bowlegs is a condition involving the shin and thigh (tibia and femur) bones.

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Brain arteriovenous malformations

The Cerebrovascular Surgery and Interventions Center treats arteriovenous malformations of the brain and other cerebrovascular conditions. Arteriovenous malformations (AVMs) are errors in blood vessel

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Cavernous malformations

The Cerebrovascular Surgery and Interventions Center treats cavernous malformations and other cerebrovascular conditions. A cavernous malformation (CM), also called a cavernoma, cavernous hemangiomas

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Brain Tumors

Today, more than 50 percent of all children diagnosed with a pediatric brain tumor will be cured of the disease. Tumors are masses of abnormal cells that can appear in all parts of the body and grow

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Bullying

Bullying is a serious societal issue that can have long-lasting effects on both the victim and the bully. Recognizing and knowing how to address bullying is the first step to prevention. Here are some

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Brain PET/CT

Brain Positron Emission Tomography — also called a brain PET/CT scan — is a safe, effective and non-invasive diagnostic imaging technique that provides highly detailed images of the brain. A brain PET

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Brain Scan

A brain Scan is a diagnostic imaging technique that provides images of blood flow in the brain. It can detect changes in blood flow within the brain that cannot be seen with other imaging methods. How

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Cat Scratch Disease

Cat scratches and bites can cause cat scratch disease, a bacterial infection carried in cat saliva. The bacteria are passed from a cat to a human after the cat licks its paws then scratches human skin

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Choroid Plexus Brain Tumor

Choroid plexus brain tumors arise from the choroid plexus, tissue located in the spaces of the brain called ventricles. This tissue makes cerebrospinal fluid (CSF), the fluid that surrounds the brain

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Concussions

If you’re a fan of any professional sport, you've probably heard about someone suffering a concussion and having to sit out the next play, the rest of the game or even the remainder of the season. But

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Congenital Toxoplasmosis

Overview You’re likely to be confused and overwhelmed—not to mention scared—if your infant has been diagnosed with congenital toxoplasmosis. But you can play an active role in helping him get better.

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Cerebral Palsy (CP)

What is Cerebral Palsy? Cerebral palsy (CP) is the most common physical disability of childhood. The term CP itself is an umbrella term for a group of disorders that affect body movement and posture

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Craniopharyngioma

A craniopharyngioma is a tumor of the brain that commonly affects children. The tumor grows in the area of the pituitary gland and the optic nerves, and frequently grows up into the base of your child

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Deep Brain Stimulation

Boston Children’s Hospital is now offering deep brain stimulation (DBS) for children with primary dystonia, a type of movement disorder in which faulty brain signals cause involuntary muscle

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Developmental Dysplasia of the Hip (Hip Dysplasia and DDH)

If your baby or child has been diagnosed with developmental dysplasia of the hip (also known as DDH or hip dysplasia), you’ll have concerns and questions about her treatment, recovery, outlook and

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Diffuse Intrinsic Pontine Glioma (DIPG)

Diffuse intrinsic pontine gliomas (DIPG) are highly aggressive and difficult to treat brain tumors found at the base of the brain. They are glial tumors, meaning they arise from the brain's glial

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Condition
Down Syndrome

Medical treatments and developmental and educational therapies can help children with Down syndrome reach their fullest potential. When you have a child with Down syndrome, we understand that you may

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Dysembryoplastic neuroepithelial tumor (DNT)

If your child has been experiencing seizures that don’t respond to medication, a possible cause may be a dysembryoplastic neuroepithelial tumor (DNT). This is a rare, benign type of tumor that occurs

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Dysphagia

Dysphagia is a term that means "difficulty swallowing." It is the inability of food or liquids to pass easily from the mouth, into the throat, and down into the esophagus to the stomach during the

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Dyslexia

What is dyslexia? Many children with learning problems in school have trouble with reading and/or writing. If the trouble is severe enough, it may be diagnosed as a “specific learning disorder in

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Eastern Equine Encephalitis (EEE)

Avoiding insect bites: what parents should know Read more about preventing mosquito bites in the article Insect spread illnesses on the rise: how to protect your family posted on Thriving, Boston

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Encephalitis

"Children with encephalitis may benefit from the brain's plasticity during the childhood years. This means that often when one area of a child's brain is damaged, a different area of the brain can

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Ependymoma

Having a tumor in the brain or spinal cord is always a very serious matter. However, there are many distinct types of brain tumors that occur in children, and some types are highly curable.

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Epilepsy

Laser Therapy for Pediatric Epilepsy Boston Children’s Hospital is one of a handful of centers offering a new, minimally invasive laser therapy for childhood epilepsy to remove tumors or diseased

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Electroencephalograms

An electroencephalogram (EEG) is a neurophysiologic technique primarily used in the evaluation of epilepsy (or possible epilepsy), but it may also be recommended for headaches, behavioral disturbances

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Electromyography and Nerve Conduction Velocity

About Electromyography and Nerve Conduction Velocity All of our nerves and muscles use electricity to get things done. In fact, you can think of your body as a machine with incredibly intricate wiring

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Evoked Potentials

Evoked Potentials (or EPs) measure electrical activity produced by external stimuli, like light flashes or sound clicks. EPs are done to test the auditory pathways (brain stem auditory evoked

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Facial Nerve Paralysis

Learn more about Facial Nerve Paralysis and Facial Reanimation from Amir Taghinia, MD

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Fetal Alcohol Syndrome (FAS)

Fetal alcohol syndrome (FAS) is a group of abnormalities that occur in babies born to mothers who consume alcohol during pregnancy. It is the most common known non-genetic (in other words, non

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Fragile X Syndrome

If your child has been diagnosed with fragile X syndrome, you may be feeling overwhelmed. Remember that seeking out information is not only necessary but empowering—it allows you to partner with your

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Ganglioglioma

A ganglioglioma is low-grade tumor of mixed cell type. This type of tumor contains properties of both glial cells (responsible for providing the structural support of the central nervous system) and

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Genetic Disorders

Overview Genetic disorders include congenital malformations, chromosomal disorders and metabolic diseases, also known as inborn errors of metabolism. Some of the symptoms can be the same as those for

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Giant Cell Tumor

Overview A giant cell tumor is a benign solitary tumor that usually grows in the ends of long bones, and contains unusually large cells that are called giant cells. Most commonly occur in the femur

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Glioblastoma multiforme

Glioblastoma Multiformes (GBMs) are high-grade gliomas that arise from the brain’s supportive tissue, known as glial cells. These are aggressive tumors that rapidly infiltrate adjacent healthy brain

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Condition
Glioma

A glioma is a kind of brain tumor that originates from glial cells, which support and nourish neurons in the brain. Gliomas account for about 25 percent of childhood cancers, and most gliomas are both

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Condition
Gliomatosis Cerebri

Gliomatosis cerebri is a highly aggressive, rare form of malignant astrocytic tumor. It most commonly presents as a diffusely infiltrating glial tumor of the cerebral cortex. Glial means that it

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Guillain Barre Syndrome

In the most common form of Guillain-Barré syndrome, the myelin covering of nerves throughout the body (the “peripheral nerves”) is damaged. (In a rarer form of the disease, the nerve axons themselves

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Genetic Testing

What kinds of prenatal testing are available at Boston Children's? We offer fetal imaging to look for growth or structural abnormalities. Three to 4 percent of babies are born with some form of major

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Head or Brain Injury

While some head injuries do cause serious and lasting damage, it’s important to remember that “head injury” is a broad term describing many different types of trauma—ranging from mild to severe. Here

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Headaches

Overview "I can't tell you how thrilled I am. It's like I have a new daughter, seeing her go from where she was last year to where she is now. Nothing has given me greater happiness." - Mom of an 11

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Heat Cramps Exhaustion and Stroke

Overview Exposure to abnormal or prolonged amounts of heat and humidity without relief or adequate fluids can cause various types of heat-related illness. Children and adolescents adjust more slowly

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Hemifacial Microsomia

What is Hemifacial microsomia? Hemifacial microsomia (HFM), also called craniofacial microsomia or sometimes "Goldenhar syndrome" is a condition in which half of one side of the face is underdeveloped

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Henoch-Schonlein Purpura (HSP)

Overview Henoch-Schonlein purpura (HSP) is a form of vasculitis, a condition that involves inflammation of the blood vessels. It’s one of the most common forms of vasculitis in childhood. HSP is seen

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Intraventricular Hemorrhage

Intraventricular hemorrhage (IVH) is bleeding inside or around the ventricles—spaces in the brain that contain the protective cerebral spinal fluid. IVH is most common in premature babies, especially

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Intrathecal baclofen therapy

Intrathecal baclofen (ITB) therapy is a treatment option for children with severe spasticity (tight, stiff muscles that make movement difficult or uncontrollable) or secondary dystonia (involuntary

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Landau-Kleffner Syndrome

Overview Landau-Kleffner Syndrome (LKS) is a rare neurological disorder. It is characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an

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Learning Disorders and Disabilities

The terms “learning disorder” (used by the medical community) and “specific learning disability” (used by the schools) refer to a neurodevelopmental problem in which a child of normal intellectual

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Low birthweight in newborns

Babies are weighed within the first few hours after birth. The weight is compared with the baby's gestational age and recorded in the medical record. A birthweight less than 5 pounds, 8 ounces is

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Low Grade Gliomas

Low-grade gliomas are brain tumors that originate from glial cells, which support and nourish neurons in the brain. Glial tumors, or gliomas, are divided into four grades, depending on their cells'

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Condition
Lyme Disease

"Individualized evaluation is the optimal approach for treating a patient with Lyme disease. Most cases of Lyme disease resolve with a finite course of antibiotics.” --Catherine Lachenauer, MD, Boston

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Lymphoblastic Lymphoma

Lymphoblastic lymphoma is a cancer of immature lymphocytes, cells of the immune system, called lymphoblasts. It is a form of non-Hodgkin lymphoma. Lymphoblastic lymphoma primarily affects children and

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Condition
Macrodactyly

Macrodactyly is an uncommon condition in which a baby’s toes or fingers are abnormally large due to the overgrowth of the underlying bone and soft tissue. The condition is congenital, meaning babies

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Malignant Rhabdoid Tumor

Malignant rhabdoid tumor is a rare childhood tumor that commonly starts in the kidneys but also can occur in other soft tissues or in the brain, where it is referred to as atypical teratoid/rhabdoid

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Condition
Marfan Syndrome

"My message to the public is if you notice common findings of Marfan in yourself or your child, these need to be evaluated right away--especially with an eye or cardiology exam." --Ronald Lacro, MD,

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Medulloblastoma

Medulloblastoma is a brain tumor located in the cerebellum, the part of the brain that controls balance, coordination, and other complex motor functions. Medulloblastoma accounts for 15 to 20 percent

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Meningioma

A meningioma is a benign (non-cancerous) tumor originating from the membranes covering the brain and spinal cord. Meningiomas can occur in any age group. They affect 2 in 100,000 people, but are much

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Meningitis

Meningitis is a bacterial or viral infection that causes three thin layers of tissue that surround the brain and the spinal cord to swell. Doctors at Boston Children's Hospital have been leaders and

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Meningococcal Infections

Overview Meningococcal infections are caused by a group of bacteria called Neisseria meningitidis. The most common forms of meningococcal infections include meningitis (infection of the membranes that

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Microcephaly

Microcephaly: Alainah's story 16-month-old Alainah of Cape Cod has enrolled in a genetics study to find the cause of her small head size. In the meantime, early interventions are helping her achieve

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Mitochondrial Disease

Mitochondrial disease is not a single disorder but an umbrella term for dozens of individual disorders in which the body’s cells have problems producing energy. Together, these disorders affect

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Movement disorders

Children with movement disorders have unwanted movements or trouble moving in the way they intend to. The term “movement disorders” is broad and includes a wide variety of conditions with a wide

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Multiple Sclerosis (MS)

At Boston Children’s Hospital, we have already helped many children cope with their multiple sclerosis (MS). Once considered to be a strictly “adult” condition, MS is now being diagnosed more often in

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Muscle Weakness (Hypotonia)

Hypotonia means decreased muscle tone. It can be a condition on its own, called benign congenital hypotonia, or it can be indicative of another problem where there is progressive loss of muscle tone,

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Muscular Dystrophy (MD)

Transitioning from pediatric to adult care More than 9 million children in the United States are living with a chronic illness. Every year, 500,000 of these children turn 18. As they join their fellow

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Myasthenia Gravis

Overview Juvenile myasthenia gravis (JMG) is the childhood form of myasthenia gravis (MG), and is an autoimmune disease in which a child’s body produces antibodies that attack the acetylcholine

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Myelodysplastic Syndrome in Children

Myelodysplastic syndrome (MDS) is a rare disease of the blood, only occurring in four out of every 1 million children. This rare disease keeps the body from properly producing blood cells and

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MRI with Anesthesia

MRI is a routine diagnostic imaging exam that uses a large magnet, radio waves, and a computer to produce 2- and 3-dimensional images of the body's organs, tissues, and bones. An MRI scan is: Often

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Nervous System Disorders

Overview The nervous system is a complex, sophisticated system that regulates and coordinates body activities. It is made up of two major divisions: Central nervous system - consisting of the brain

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Neuroblastoma

Neuroblastoma is a cancerous tumor that begins in nerve tissue of very young children, usually beginning in the abdomen or adrenal glands. Abnormal nerve cells may be present before birth, but the

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Neurocutaneous Syndromes

It can be hard to find accurate information about some neurocutaneous syndromes simply because they’re relatively rare.They affect from 1 in 3,000 (neurofibromatosis) children to 1 in close to 50,000

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Neurofibromatosis

Whether there’s a family history of neurofibromatosis 1 (NF1) or the diagnosis comes straight out of the blue, no parents are ever ready to learn that their child has a chronic and unpredictable

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Neurofibromatosis Type 2

"The fear of the unknown is a big concern in those with neurofibromatosis type 2. Although nothing can be predicted with absolute certainty, most individuals with NF2 can lead relatively normal and

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Neurogenic Bladder

A common concern of parents whose children have been diagnosed with neurogenic bladder dysfunction is the question: “Will my child still be in diapers when he’s school age?” The short answer is: most

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Neuromuscular Scoliosis

If your child has been diagnosed with neuromuscular scoliosis, we know that you and your family are under stress, and are already dealing with the underlying neuromuscular condition that’s associated

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Neurocritical Care

What is neurocritical care? When a child is hospitalized in the intensive care unit—whether because of trauma, a serious neurological condition or another life-threatening illness or injury—her

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Neurological Diagnostic Tests

Evaluating and diagnosing damage to the nervous system—which consists of the brain, the spinal cord and the nerves from these areas—is complicated and complex. But thanks to advances in science, we

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Obstructive Sleep Apnea (OSA)

If your child snores or has trouble breathing at night, it may not just mean that she’s a noisy sleeper. It could be a sign that she has obstructive sleep apnea (OSA), a common and treatable condition

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Oligodendroglioma

An oligodendroglioma is a low-grade (relatively benign) tumor arising from a type of cell of the central nervous system known as an oligodendrocyte. Oligodendrocytes make up a supportive network for

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Optic Neuritis (ON)

Optic neuritis (ON) involves an attack of inflammation (swelling) in your optic nerve, which sends information from your eye to your brain about what you are seeing. In ON, there is damage to myelin,

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Optic Pathway Glioma

An optic pathway glioma (also called an optic nerve glioma) is a slow-growing brain tumor that arises in or around the optic nerve, which connects the eye to the brain. As the tumor progresses, it

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Osteoblastoma

Osteoblastoma is a benign, bone-forming tumor that is extremely rare, accounting for only 1 percent of all primary bone tumors. Unlike most primary bone tumors, which favor the extremities,

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Parkes Weber Syndrome

Overview At Children’s Hospital Boston, we know how difficult a diagnosis of Parkes Weber syndrome (PWS) can be, both for your child and for your whole family. It’s a rare condition that’s not widely

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Childhood Cancers

While childhood cancer is a potentially life-threatening condition requiring intensive treatment, the majority of pediatric cancers are treatable. Thanks to recent advances in therapies, many forms of

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Pediatric epilepsy and seizure disorder

I think my child is having a seizure. What do I do? Epilepsy is a brain condition that makes a child susceptible to seizures. Seizures result from abnormal electrical activity in the brain: Some parts

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Pediatric Lupus (Systemic Lupus Erythmatosus)

Like all autoimmune diseases, lupus causes the immune system—our natural protection against foreign invaders like viruses and bacteria—to mistakenly attack the body itself. What makes lupus unusual,

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Pediatric Neurological Examination

"Our researchers are evolving increasingly sophisticated MRI technology that's helping us gain a better understanding of cognitive disorders in children." ---- David K. Urion, MD, Director, Learning

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Pfeiffer Syndrome

What is Pfeiffer Syndrome? Pfeiffer syndrome is a complex genetic disorder in which certain bones in the skull fuse (join together) early in their development. This prevents the skull from growing

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PHACE Syndrome

PHACE was recognized as a condition relatively recently. PHACE (sometimes also called PHACE association, PHACES syndrome, PHACES association or Pascual-Castroviejo type II syndrome) is an associated

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Primitive neuroectodermal tumors (PNET)

Primitive neuroectodermal tumors (PNET) form a group of tumors defined by their appearance that are thought to develop from primitive (undifferentiated) nerve cells in the brain. They are rare tumors

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Phenylketonuria (PKU)

Phenylketonuria (PKU) is a genetically determined metabolic disorder that is highly treatable with diet and supplements. It is an inherited disease in which the body cannot metabolize an amino acid

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Poliomyelitis

Poliomyelitis, or simply polio, is a highly contagious infectious disease caused by three types of poliovirus. The poliovirus is a virus that destroys nervous system causing paralysis. Since the polio

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Polysomnography

Polysomnography is the all-night recording of multiple brain and body activities including brain waves (EEG), eye movements, muscle tone, limb movements, heart rate and rhythm(electrocardiogram), and

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Treatment
Prematurity

Overview A baby born before 37 weeks of pregnancy is considered premature. Slightly fewer than 12 percent of all babies are premature. Overall, the rate of premature births is rising, mainly due to

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Rabies

Rabies is a viral infection of certain warm-blooded animals (such as skunks, raccoons, foxes, coyotes and bats) and is caused by a virus in the Rhabdoviridae family. It attacks the nervous system and,

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Rett Syndrome

Rett syndrome is a genetic disorder of the nervous system that causes a regression (loss) of language and motor skills. The syndrome is considered one of the autism spectrum disorders (ASDs), although

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Reye Syndrome

Reye syndrome is a rare condition that affects the normal chemical balance in the body, resulting in potential damage to all organs, but primarily the brain and liver. As the inflammation in the brain

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Rheumatic Fever

Rheumatic fever is a systemic immune disease that affects the joints, skin, heart, blood, vessels, and brain. Rheumatic fever may develop after your child is infected with strep throat or scarlet

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Rocky Mountain Spotted Fever

Rocky Mountain spotted fever (RMSF) is an infection caused by a type of bacteria carried by ticks. Despite its name, cases of RMSF have been reported throughout the entire United States, not just in

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Scabies

Scabies is an infestation of mites. These tiny insects leave small red bumps that cause intense itching. The mites burrowing into the skin where they lay eggs that hatch a few days later cause the

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Scleroderma

Scleroderma is a chronic autoimmune condition that leads to scarring of the skin, joints, and other internal organs. In the United States, about one in 1,000 people are affected. While found among all

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Seizures

Seizures happen when brain cells fire or “talk” too much, temporarily disrupting the brain’s normal electrical signals. They’re quite common, especially in infants and young children, and they have a

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Spinal Muscular Atrophy (SMA)

"SMA was listed by the National Institutes of Health as the neurologic disease closest to finding a cure. This is not a coincidence...because the scientific community, SMA research organizations, and

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Stroke

Is my child having a stroke? If you see any of these symptoms in your child, don’t wait—go directly to an emergency room. weakness on one side of the body difficulty speaking difficulty walking or

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Sturge-Weber Syndrome

If your child has Sturge-Weber syndrome, it means that she was born with a vascular birthmark and neurological abnormalities. Seizures develop in 75 to 90 percent of all children with the syndrome.

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Syncope

Syncope is the medical term for fainting. It’s a temporary loss of consciousness and muscle tone that occurs when not enough blood goes to the brain. Fainting affects people of all ages. More than 100

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Tectal Gliomas

A tectal glioma is a low-grade, slow-growing brain tumor in the tectum, the roof of the brain stem. The brain stem controls vital body functions such as breathing, heart rate and blood pressure.

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Condition
Tetanus

What is tetanus? Tetanus is an acute, sometimes fatal, disease of the central nervous system, caused by the toxin of the tetanus bacterium, which usually enters the body through an open wound. The

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Thalamic Astrocytoma and Hypothalamic Astrocytoma

A brain tumor is always a very serious matter, and a thalamic or hypothalamic astrocytoma is no exception. A thalamic/hypothalamic astrocytoma is a low-grade, slow-growing glioma (brain tumor) that

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Thrombosis (Blood Clots)

When they help prevent bleeding, blood clots are a normal and healthy function of the human body. However, a thrombosis (or thrombus) is an excessive or dangerous blood clot that develops somewhere it

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Tick Bites

Overview Ticks are small insects that attach their bodies onto a human or animal host. Ticks live in grass, bushes, wooded areas and seashores. Ticks prefer hairy areas such as the scalp, behind the

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Torticollis

Unlike many health conditions that develop silently inside the body, pediatric torticollis is easy to see from the outside. You can recognize it when your child’s head persistently tilts to one side.

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Tourette's Disorder

Tics are abrupt, purposeless, and involuntary vocal sounds or muscular jerks. They are sudden, rapid, and recurrent. They can involve any body part and may vary in severity—from very mild and hardly

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Toxic Epidermal Necrolysis

Overview Toxic epidermal necrolysis is a life-threatening skin disorder characterized by a blistering and peeling of the skin. The condition causes the skin to peel in sheets, leaving large raw areas.

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Toxic Shock Syndrome

Toxic shock syndrome (TSS) is a rare but life-threatening complication of bacterial infection. TSS can affect anyone, male or female. However, it occurs most frequently in young women who wear tampons

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Treacher Collins Syndrome

Overview Treacher Collins syndrome is a genetic birth disorder characterized by the premature joining of certain bones of the skull during development, which affects the shape of the head and face.

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Trisomies and Monosomies

Overview A trisomy and a monosomy are types of numerical chromosome abnormalities that can cause certain birth defects. Normally, people are born with 23 chromosome pairs, or 46 chromosomes, in each

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Trisomy 18 and 13

Overview The term trisomy describes the presence of three chromosomes instead of the usual pair of chromosomes. For example, trisomy 21, or Down syndrome, occurs when a baby has three #21 chromosomes.

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Tuberous Sclerosis Complex (TSC)

Our bodies are stocked with sophisticated controls that keep our cells working in harmony with one other, so that no cells grow to overstep their bounds. When one of these central systems isn’t

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Turner Syndrome

"I approach treatment as a long-term conversation between me, the patient and her parents about the best courses of action. Establishing some level of normalcy for families in situations that's aren't

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Wilms' Tumor

Wilms tumor (also called nephroblastoma) is a cancerous tumor in the cells of the kidney. Fortunately, with the right treatment, Wilms tumor is highly treatable. Wilms tumor can occur at any age

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Condition
Wiskott-Aldrich Syndrome

Wiskott-Aldrich syndrome (WAS) is a very rare, serious and potentially life-threatening disorder that almost always affects boys. It causes a child to have a poorly functioning immune system – the

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