Findings: triggered by hyperventilation, 3 hz spike and wave on EEG, no aura or postictal phase
Notes: Treat with ethosuximide or valproic acid
Question: What fits these findings?
Acute Cerebellar Ataxia
Category: generalpediatrics-Neurology
Findings: truncal ataxia a week after a viral syndrome, speech difficulty, horizontal nystagmus, self-resolves in months
Acute Flaccid Myelitis
Category: generalpediatrics-Neurology
Findings: droopy eyelids, hypotonia, hyporeflexia, difficulty with speech, pain in extremities and back, temperature instability, respiratory failure, spinal cord lesion in gray matter on MRI, CSF with elevated WBCs
Notes: Treated with supportive care and rehab.
Benign Rolandic Epilepsy
Category: generalpediatrics-Neurology
Findings: centrotemporal spikes on EEG, autosomal dominant inheritance, occurs at night, may occur while awake, may be associated with tics
Notes: Caused by botulism toxin from Clostridium botulinum inhibiting release of acetylcholine. Treat supportively, intubate if necessary, and with antitoxin.
Question: What fits these findings?
Charcot-Marie-Tooth Disease
Category: generalpediatrics-Neurology
Findings: calf atrophy, pes cavus, clumsiness, foot drop, autosomal dominant in CMT1, diagnosed by nerve conduction tests
Notes: Treat with physical therapy
Dandy Walker Malformation
Category: generalpediatrics-Neurology
Findings: macrocephaly, vomiting, missing cerebellar vermis, extra fluid in 4th ventricle, delayed motor development
Findings: fever, pain, increased reflexes, paresthesias that may become paralysis, lack of sensation, loss of bladder and bowel control, mass near spine
Findings: numbness and weakness of lower extremities, no pleocytosis in CSF, normal glucose and high protein in CSF, ascending weakness, diminished reflex, urinary retention
Notes: Do an LP to look for increased CSF protein without increased WBCs. Treat with IVIG or plasmapheresis. Consider tick paralysis as a differential, but this will likely have ocular signs like fixed and dilated pupils, and elevated WBCs on LP.
Question: What fits these findings?
Horner Syndrome
Category: generalpediatrics-Neurology
Findings: ptosis, miosis, anhidrosis, T1 lesion
Notes: Associated with Klumpke palsy
Huntington Disease
Category: generalpediatrics-Neurology
Findings: autosomal dominant inheritance, CAG repeats, rigidity, chorea, emotional lability, hypotonia and dementia in adults
Infantile Spasms
Category: generalpediatrics-Neurology
Findings: nonfocal seizures, flexion and extension of whole body, hypsarrhythmia
Notes: Associated with tuberous sclerosis
Juvenile Myoclonic Epilepsy
Category: generalpediatrics-Neurology
Findings: upper extremity myoclonus soon after awakening, usually starts in adolescence, treated with valproic acid, generalized or absence seizures, 4 to 6 Hz spike waves
Notes: Usually needs lifelong anti-convulsant therapy.
Question: What fits these findings?
Klumpke Palsy
Category: generalpediatrics-Neurology
Findings: brachial plexus injury at c8-t1, claw hand, inability to grasp, potential Horner syndrome
Myasthenia Gravis
Category: generalpediatrics-Neurology
Findings: ptosis, waxing and waning weakness, diminished reflexes, treated with pyridostigmine-steroids-plasmapheresis, associated with thymoma
Notes: Intubate if respiratory issues are seen.
Myotonic Dystrophy
Category: generalpediatrics-Neurology
Findings: slow relaxation after contractions, normal CK, distal weakness in hands and legs, associated with endocrine and gastrointestinal problems, progressive muscle weakness and wasting
Question: What fits these findings?
Nerve Conduction Velocities
Category: generalpediatrics-Neurology
Findings: peripheral neuropathy
Notes: This includes diabetic neuropathy, Guillain-Barr, and vitamin B12 deficiency.
Question: What test should you order if you are concerned about the following?
Somatosensory Evoked Potentials
Category: generalpediatrics-Neurology
Findings: demyelinating disease
Question: What test should you order if you are concerned about the following?
Spinal Muscular Atrophy (SMA)
Category: generalpediatrics-Neurology
Findings: tongue fasciculations, hypotonia, normal CK, normal sensation
Notes: Only motor ability is affected as this is a disease of the anterior horn of spinal cord.
Stereotypies
Category: generalpediatrics-Neurology
Findings: repetitive rhythmic movements, body rocking, head nodding, autism, able to be stopped with distraction
Notes: May resolve in childhood but sometimes persists into adulthood
Tick Paralysis
Category: generalpediatrics-Neurology
Findings: acute ascending paralysis, ataxia, dilated pupils, normal CSF, lack of fever, caused by salivary neurotoxin
Notes: Remove tick. May look like Gullain-Barre.
Question: What fits these findings?
Todd Paralysis
Category: generalpediatrics-Neurology
Findings: focal motor weakness after a seizure
Tourette Syndrome
Category: generalpediatrics-Neurology
Findings: two motor tics and one vocal tic, treated with clonidine or guanfacine in severe cases
Notes: ADHD meds may worsen tics. Switch medications or decrease dose.
Transverse Myelitis
Category: generalpediatrics-Neurology
Findings: bladder and bowel dysfunction, increased reflexes, history of fever and back pain, neutrophilia in CSF, inflammation in spinal cross-section on MRI
Notes: Treat with IV corticosteroids. If not effective, may need plasmapheresis.