Symptoms & Causes
Chiari 1 malformation (CM1) occurs when the cerebellar tonsils (the lowest part of the cerebellum in the back of the head) sinks lower down into the spinal canal. Children diagnosed with CM1 often have no signs or symptoms. They can be diagnosed incidentally after having a CT or MRI scan of the brain done for another problem. Most cases do not require any surgery and children are followed for any symptoms or signs associated with CM1. In those with symptoms, the flow of cerebrospinal fluid (CSF) which flows from around the brain into the spinal canal is blocked by the CM1 causing symptoms to develop. Symptoms most often start in the teen years or early adulthood and can include: headaches involving the back of the head and neck, especially when coughing, sneezing, or straining, and less commonly balance problems, dizziness, trouble swallowing, numbness or tingling in the arms or legs, vision problems, breathing problems, especially during sleep, loss of bowel or bladder control, and a curve of the spine called scoliosis. It is less common to occur in infants and toddlers but symptoms can include trouble swallowing, irritability, and breathing problems. After assessment by a pediatric neurosurgeon and appropriate imaging, often with an MRI of the brain and spine, children with CM1 that have symptoms affecting their day-to-day quality of life may be candidates for surgery to remove the bone pressing against the cerebellar tonsils (decompression) and enlarging the space around the tonsils (duraplasty) to re-establish CSF flow and relieve the symptoms.

Chiari 2 malformations (CM2) are another more severe congenital malformation. Children with type II Chiari malformations are almost always associated with a spinal defect known as myelomeningocele, and are more likely to have symptoms associated with increased pressure inside the brain and on the brainstem. These may include: a build‐up of fluid in the brain (hydrocephalus), a weak cry, trouble swallowing, breathing problems, problems with nerve function in the throat and tongue. Treatment often includes repair of the spinal defect soon after birth and placement of ventricular peritoneal shunt or endoscopic treatment in select cases to relieve the pressure on the brain if symptoms and signs of hydrocephalus are present.

Craniosynostosis occurs when one or more sutures (a natural opening in the skull bone to allow growthof the skull and brain as the child grows) closes prematurely. This causes compensatory growth along the other sutures and no growth along the fused suture causing an abnormal shape of the head and can be associated with increased pressure inside the head in some children. Some craniosynostosis cases are associated with genetic syndromes and may involve multiple sutures or have other medical conditions (see Cranial and Facial Program for more details).

Hydrocephalus occurs when cerebrospinal fluid (CSF) accumulates in the brain and spinal canal, causing the heads of newborns and young children to enlarge and puts pressure on sensitive brain tissue. Hydrocephalus can be congenital, occur after a bleed or infection in the brain, after a major traumatic brain injury, or due to a cyst or tumor. If not treated, hydrocephalus can lead to serious health and cognitive problems. Symptoms of hydrocephalus vary depending on a child’s age and how advanced the condition is when it is discovered. Infants with hydrocephalus may have: an unusually large head (macrocephaly), a rapid increase in head size, extreme sleepiness, vomiting that is frequent and severe, trouble looking up when the head is facing forward, seizures that have no known cause. Older children with hydrocephalus may have: severe headaches, often with nausea and vomiting, blurred or double vision, problems with balance, trouble looking up when the head is facing forward, problems with coordination, trouble standing or walking, loss of bladder control, extreme tiredness, irritability for no apparent reason, delays in reaching developmental milestones, trouble remembering and focusing, and sudden changes in personality. Treatment for hydrocephalus is individualized for each child based on the cause and anatomy of the brain. Options may include medications for cases such as idiopathic intracranial hypertension, endoscopic fenestration procedures for cysts, endoscopic third ventriculostomy (ETV) and choroid plexus cauterization (CPC), or placement of an internal shunt system for continuous drainage of CSF. Our pediatric neurosurgeon assesses each child’s individual case, reviews the imaging, and discuss the best options with families to achieve the best long-term outcomes.

What is spina bifida?
A congenital disorder that occurs early in pregnancy and can lead to a number of problems for the newborn. They range from being born with an open defect along the back with exposed spinal cord and nerves (myelomeningocele) to a normal looking back with internal problems with the spinal cord and nerves (meningocele or closed neural tube defects). Our multispecialty Spina Bifida clinic includes a pediatric neurosurgeon, pediatric urologist, pediatric orthopedic surgeon, case worker, physiotherapist, orthosis specialist, and clinic coordinator to provide individualized care for each child and their needs. Tethered cord is a condition where the filum terminale (a structure located at the end of the spinal cord to anchor it) is thickened and contains fat cells that prevent the spinal cord from elongating as your child grows causing injury to the nerves. If this occurs, it can cause tethered cord syndrome and can lead to weakness in the legs, sensory loss, changes in bowel or bladder control, recurrent urinary tract infections, tip-toe walking, in-toeing of the feet, scoliosis, or back and leg pain. Management involves appropriate imaging of the spine, assessing the function of the bladder, and once diagnosis is confirmed, surgical cutting of the thickened filum through a small opening in the lower back to relieve the tension on the spinal cord and nerves and prevent progressive injury to the neural tissue.

What to Expect:
Treatment and Recovery
If diagnosed before birth with ultrasound or fetal MRI, our specialized fetal, neonatal, and pediatric neurosurgery team review each case, and meet with the parents for counselling to discuss the diagnosis, options for fetal surgery treatment (surgery while in the womb) and appropriate referrals if meeting criteria, and what to expect during pregnancy and after delivery. At birth, if the defect is open, our pediatric neurosurgeon proceeds to surgically repair and close the exposed nerves within 24 to 48 hours. After the patient is discharged, any problems that develop with the kidneys or bladder are treated by our pediatric urologist while any orthopedic related problems are treated by our pediatric orthopedic surgeon. As part of the multidisciplinary clinic, physical and occupational therapy is provided by experienced therapists.  Our social service team provides help to the family to navigate the complex medical process. All of this work is done in a coordinated fashion, in one visit, by our highly qualified medical team.

First Visit
During your child’s first visit to the Spina Bifida Clinic, your child will be evaluated by a team of highly experienced surgeons, therapists and clinical staff. Our team members will provide your child with a personalized evaluation and plan of treatment.

Follow Up
Upon follow‐up you will review imaging studies with your providers. We will evaluate any new orthotics. We will continue with routine follow‐up assessments with neurosurgery, orthopedics, urology, physical therapy and social work. We will discuss further recommendations and help develop treatment plans.

Cysts can occur inside the central nervous system (CNS) and can include arachnoid cysts some of which remain stable and only require routine imaging while others can grow and cause increased intracranial pressure and require treatment through minimally invasive endoscopic approaches or placement of a shunt. Other cysts that can occur in the brain or spine include epidermoid and dermoid cyst that grow overtime or can rupture and cause chemical meningitis and often require surgical resection. Rare cysts such as neuroenteric cysts can cause pressure on surrounding structures and require removal. Other cysts that can occur include post-traumatic, post-hemorrhagic (after bleeding inside the brain or spine) or post-infectious (after CNS infections such as meningitis), and can sometimes require specialized treatment.

Children can sometimes be born with or develop vascular malformations such as Vein of Galen malformations, arterio-venous malformations, cavernous malformations, cerebral aneurysm, capillary telangiectasias, sinus pericrania, and dural arterio-venous fistulas. These can present with cardiac problems, seizures, acute neurological changes, headaches, or discovered during imaging for certain genetic mutations. These require a specialized multi-disciplinary approach by our pediatric neurosurgeon and interventional neuro-radiologist for appropriate workup, counselling, and treatment of these conditions based on each individual case. These can include observation, surgery, endovascular treatment (coils or embolization), radiation, or a combination of these.

Strokes and intracranial bleeds are fortunately rare in children but when they occur require urgent diagnosis and appropriate treatments to prevent further damage to the brain. Strokes can include sinus thrombosis (blood clots in the veins that drain the brain) and are treated with blood thinners, other causes include arterial thrombi or emboli that may require clot busters or endovascular treatment to re- establish blood flow to the brain. Moyamoya disease and syndrome occur when the arteries at the base of the skull have narrowed making the brain more susceptible to strokes and bleeds and is treated with bypass surgery by a neurosurgeon. Intracranial bleeds can occur due to tumors, vascular malformations, medications or trauma and when severe require urgent evacuation of the clot through surgery. Our pediatric neurosurgeon, pediatric neurologist, interventional neuroradiologist, and hematologist will often be involved in the care and management of these patients.

Skull tumors can occur in isolation or as part of spectrum of diseases and range from benign lesions such as dermoid cysts, inflammatory disease such as Langerhans histiocytosis, to bony tumors many of which will require biopsy for diagnosis and if needed surgery to remove the lesion and reconstruct the skull defect with bone or artificial protective material.

Congenital defects of the skull can cause herniation of the dura (meningocele) or brain (encephalocele) and often occur in the midline anywhere from the nasal cavity to the back of the head. These require appropriate imaging to identify the structures within the herniated tissue and are often treated by removal of the herniated tissue that is non-functional, closure of the defect, and reconstruction of the skull deformity. This is done by our pediatric neurosurgeon and occasional in collaboration with our craniofacial, ophthalmology, or ear, nose, and throat surgeons based on the location and size of the defect with the use of 3D reconstructions if needed for better surgical planning.

Skull fractures are frequent and occur after falls or blunt trauma to the head. These often require observation to ensure the bone is healing without any complications. In younger children, monitoring for rare growing skull fractures where the dura (lining of the brain) is caught between the fracture pieces and can increase in size over time, these therefore require surgery to repair the defect.

There are many congenital malformations of the brain and spine that can occur. When diagnosed in utero (during pregnancy) we are able to provide counseling to the parents about expectations and post-delivery care. Those discovered after birth can include developmental anomalies of the brain and spine, some of which can be associated with intellectual challenges, seizures, hydrocephalus, hormone deficiencies, visual problems, all of which require appropriate diagnosis and management. At times, we may request genetic testing if a particular syndrome or chromosomal anomaly is suspected.

Congenital malformations of the spine can include spina bifida, vertebral anomalies, scoliosis or kyphosis, basilar invagination and impression, split cord malformation, and others. These require appropriate imaging and clinical examination to establish the best treatment which may include bracing, traction, or surgical correction and stabilization.

Epilepsy is a common nervous system disorder. It is a neurological condition involving the brain that causes seizures. Pediatric epilepsy affects 1% to 2% of children worldwide. A child is said to have epilepsy if they have two or more seizures on separate days. There are many different causes of epilepsy, many of which can be treated with medication alone. However, 1 in 5 children can develop seizures that are not responsive to medications. Seizures cause ongoing damage to the brain and significantly affects the child’s quality of life during development and into adulthood. Surgery plays an important role in children with medically refractory epilepsy and focal seizures where it may helps decrease seizure severity and frequency and at times even be curative. Children with seizures should be assessed by our pediatric neurologist who will often order an electroencephalogram (EEG) to identify which part of the brain the seizure is coming from and a CT or MRI of the brain to rule out any lesions causing the seizures. If surgery is being considered, then further investigations can include specialized CT scans, functional MRIs, cognitive tests, and more invasive monitoring including stereotactic electroencephalogram (SEEG) or strip electrodes to identify with better precision the area and extent of seizure activity. Surgical treatment for epilepsy includes resection of the epilepsy focus, corpus callosotomy, Vagus nerve stimulators (VNS), deep brain stimulation (DBS), and responsive neurostimulators (RNS) and are chosen after discussion with the patient and their family based on the cause and location of the seizures, investigation results, and is unique to each individual child and their seizure to achieve the best outcomes, as one child’s treatment may not be the right treatment for another patient.

Trauma to the brain and spine requires management at specialized centers such as El Paso Children’s Hospital with a trauma team that includes trained trauma specialists, neurosurgeons, and emergency care physicians all certified in the management of pediatric advanced life support to rapidly stabilize and appropriate managed pediatric trauma and provide the best possible outcomes for these patients. Our physiotherapist and occupational therapists are involved once the acute phase is over and recovery has begun to work with each patient to provide the appropriate assessment, tools, and interventions needed to optimize recovery. Patients that may benefit from further neurological rehabilitation are sent to specialized pediatric rehab centers.

Our Brachial Plexus speciality clinic includes assessment by our plastic surgeon and pediatric neurosurgeon for birth related injuries to the peripheral nerves, e.g. brachial plexus injuries, and also treatment of peripheral nerve injuries due to trauma or tumors.

Children with cerebral palsy and other neurological disorders may suffer from spasticity of the limbs or dystonia. This can affect the function and quality of life of the child. At El Paso Children’s Hospital, we offer selective dorsal rhizotomy (SDR), a procedure that targets abnormal sensory nerve roots in the spine and through disconnection of this circuit relieves the spasticity in the legs. Other options for treatment of spasticity include medications, Botox injections into select muscles with spasticity, and baclofen pumps. We work closely with our orthopedic surgeons and orthosis specialists for children with hip dislocations, joint contractures, scoliosis, and short ligaments and tendons for appropriate surgeries to help improve functionality.