Neurology diagnoses and treats disorders of the nervous system, including the brain, spinal cord, and nerves, as well as thought and memory.
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The diagnostic process in pediatric neurology is often referred to as an “odyssey” because of the complexity of the developing brain. It begins with a meticulous clinical assessment and often utilizes the most advanced technology available in medicine to pinpoint genetic or structural causes. The goal is to provide an answer that can guide prognosis and potential therapy.
The examination starts the moment the child enters the room. The neurologist observes how the child interacts with parents, how they play, and how they move spontaneously. This observational data is often more valuable than formal testing in young children who may not cooperate.
The formal exam assesses cranial nerves, muscle tone, strength, reflexes, and coordination. In infants, “primitive reflexes” like the Moro (startle) or grasp reflex are checked. These reflexes should disappear by a certain age; their persistence indicates a lack of brain maturation or inhibition.
Magnetic Resonance Imaging (MRI) is the workhorse of pediatric neurology. It provides exquisite detail of the brain’s structure without using ionizing radiation. It is essential for diagnosing congenital malformations, tumors, white matter diseases (leukodystrophies), and signs of injury like stroke.
In neonates, cranial ultrasound is often used as a first line screening tool because it can see through the open fontanelle (soft spot). It is excellent for detecting bleeds (intraventricular hemorrhage) in premature babies. CT scans are reserved for emergencies like trauma where speed is critical to detect skull fractures or acute bleeding.
The Electroencephalogram (EEG) records the electrical activity of the brain. It is the definitive test for epilepsy. In pediatrics, the background rhythms of the EEG change significantly as the child grows. Interpreting a pediatric EEG requires specialized training to distinguish normal immature patterns from pathological spikes.
For neuromuscular weakness, Electromyography (EMG) and Nerve Conduction Studies (NCS) are used. These tests measure how well the nerves send signals and how the muscles respond. They can differentiate between a problem in the nerve (neuropathy), the muscle (myopathy), or the junction between them.
We have entered the genomic era of pediatric neurology. “Chromosomal Microarray Analysis” (CMA) is often the first test for developmental delay, looking for missing or extra pieces of DNA. For more specific conditions, “gene panels” test hundreds of epilepsy or neuromuscular genes at once.
Whole Exome Sequencing (WES) reads the coding regions of all 20,000 genes. It has a high yield for diagnosing rare, complex neurogenetic disorders that do not fit a classic pattern. Finding a genetic diagnosis can stop the testing cycle, prevent unnecessary procedures, and sometimes qualify the child for gene specific clinical trials.
When a metabolic disorder is suspected, a “metabolic workup” is performed on blood and urine. This looks for the accumulation of toxic byproducts or the lack of essential energy substrates. A lumbar puncture (spinal tap) may be needed to analyze the cerebrospinal fluid for neurotransmitters, glucose, or signs of inflammation.
Lumbar puncture is also crucial for diagnosing autoimmune encephalitis or meningitis. Measurement of opening pressure helps diagnose Idiopathic Intracranial Hypertension (pseudotumor cerebri), a condition causing headaches and vision loss in adolescents.
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An MRI takes 30 to 60 minutes and requires the patient to be perfectly still; young children cannot do this, so light anesthesia is used to ensure diagnostic quality images without distress.
A chromosomal microarray is a genetic blood test that scans the DNA to see if there are tiny missing pieces (deletions) or extra pieces (duplications) that could cause developmental delays.
No, a routine EEG only captures 30 minutes of brain time. If the child is not having a seizure or electrical spike during that window, it can be normal even if they have epilepsy.
It is a very common and safe procedure. The most common side effect is a temporary headache. Serious risks like bleeding or infection are extremely rare.
“Trio testing” (checking the child and both parents) helps doctors determine if a gene change is new in the child (de novo) or inherited, which is vital for diagnosis and future family planning.
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