2025 – PAGE 403 – NEUROLOGY
SENSORY NEUROPATHIES
HEREDITARY PRIMARY MOTOR SENSORY NEUROPATHIES
This is a group of disorders, also known more succinctly as hereditary peripheral neuropathies, is a diverse group of disorders. The one you will most likely need to be familiar with is Charcot-Marie-Tooth (CMT) disease. The most common form is CMT1 (which is further divided).
- Early signs: distal weakness, clumsiness, ankle sprains, foot drop, pes cavus.
- Later: sensory deficits and weakness, in both upper and lower extremities; distal calf muscle atrophy (“stork leg” deformity).
- Caused by mutations in the genes for myelin. Autosomal dominant inheritance in CMT1, some other forms have other patterns.
- Diagnosis: nerve conduction velocities, nerve biopsy; genetic testing might replace these.
- Management: physical therapy.
MNEMONIC: Someone with Charcot-Marie-TOOTH has TOOTHpick legs from distal muscle atrophy.
SEIZURES
FIRST-TIME SEIZURE
If presented with a generalized (non-focal), first-time seizure in a child who is greater than 1 year of age and otherwise healthy, no further workup is indicated as long as the seizure was less than 5 minutes.
PEARLS: After a single afebrile seizure, the chance of future epilepsy is > 30%. If the child has any neurologic issues (hyperreflexia, cognitive impairments, etc.), the chances are much higher. Diagnosing a seizure is better done with a good history rather an EEG. (But a normal EEG is predictive of a lower chance of recurrence.)
EPILEPSY AND SEIZURE PRECAUTIONS AND EDUCATION
Seizure precautions and education should be given to the parents of children with epilepsy. During a seizure, parents should put the child on the floor on his/her side, time the seizure, and call 911 if it lasts more than 5 minutes. When epileptic children are on wheels (bicycle), they should wear a helmet. When near water, an adult should be watching. Let parents know that recurrent seizures rarely cause death or long-term brain damage, unless a patient goes into status epilepticus (continuous seizure activity for >5 minutes). For teenagers, they need to have a seizure-free interval of at least 3 months before they can return to driving (some say 6 or even 12). If a patient has regular epilepsy (not related to any other neurologic disorder), medications can be stopped after 2 years of a seizure-free interval to see how the child does off of medication.
EMERGENCY ROOM PEDIATRIC SEIZURE MANAGEMENT
The first step in pediatric seizure management is to check the glucose! If it’s normal, then give IV lorazepam. Lorazepam is preferred over diazepam because it acts fast and has a longer half-life. If you don’t have IV access, give rectal diazepam as the initial therapy. After that, use an even longer acting agent for treatment if the seizure recurs. Long-acting anti-seizure medications include fosphenytoin, valproic acid, phenobarbital, and phenytoin.