Pediatric Neurology Flashcards
1
Q
Generalized Epilepsy with Febrile Seizures +
- Features
- Mutation
- Seizure Characteristics
- EEG
- Course/Prognosis
A
- Family History of GEFS+, Starting before 6 months, Continuing after 6 years. May be associated with Dravet Syndrome, West Syndrome or Myotonic-Astatic Epilepsy
- SCN1A, SCN1B, SCN2A, GABAa
- Generalized (Absence, Atonic, Myoclonic), Focal (Temporal or Frontal)
- EEG usually normal
- Spontaneously Remits by mid childhood
2
Q
Rett Syndrome
- Features
- Genetics
- EEG
- Course
- Management
- Prognosis
A
- Regression of Gait and Fine motor milestones and Language with repetitive hand movements, often with seizures.
- XLinked on MECG2, most cases De novo. Fatal in boys.
- EEG abnormal but nonspecific
- Onset 6-18 months, followed by regression, plateau for years, then late motor loss. Seizures decrease at age 20
- Orthopedics, Cardiology, Pulmonology
- Age 50, usually from respiratory complications
3
Q
Benign Familial Neonatal Convulsions
- Age of Onset
- Genetics
- Features
- Diagnosis
- Treatment
- Prognosis
A
- Neonatal period “Fifth day fits”
- Autosomal Dominant, KCNQ2 mutation, KCNQ3
- Clonic or Myoclonic seizures that start in the first few weeks. Developmentally normal.
- EEG typically shows focal, multifocal or bilateral sharps, spikes, or spike-and-wave patterns
- Often do not need prophylaxis with AED
- 10-15% have seizures later, 33% febrile seizures
4
Q
West Syndrome
- Age of Onset
- Clinical Features
- Diagnosis
- Treatment
- Prognosis
A
- During Infancy
- Infantile spasms in clusters, Hypsarrhythmia, developmental arrest
- EEG shows high amplitude, chaotic slow waves with multifocal spikes and sharps (Hypsarrhythmia)
- ACTH and Vigabatrin
- Variable but often poor prognosis
5
Q
Describe Aicardi syndrome.
A
- Infantile Spasms
- Agenesis of the Corpus Callosum
- Retinal malformation
6
Q
Benign Childhood Epilepsy with Centrotemporal Spikes
- Age of Onset
- Features
- Diagnosis
- Treatment
- Prognosis
A
- Age 4-12
- Also known as Rolandic epilepsy, 70% have seizures only during sleep. Motor of sensory focal seizures with secondary generalization. Autosomal Dominant.
- EEG shows Centrotemporal spikes with dipole
MRI normal - AED therapy
- Most resolve, only 1/10 have seizures 5 years after onset
7
Q
Lennox-Gastaut Syndrome
- Clinical Triad
- Age of Onset
- Features
- Diagnosis
- Treatment
- Prognosis
A
- Mental Retardation, 2-Hz spike and wave on EEG, Multiple seizure subtypes
- Between 2 and 8, Boys>Girls
- Onset of MR before seizures whih can be Atonic, Tonic, Atypical absence, GTC
- EEG shows 2-Hz slow spike-and-wave
- Valproate commonly used.
- Poor prognosis, epileptic encephalopathy causes deterioration
8
Q
Landau-Kleffner Syndrome
- Features
- Age of Onset
- Diagnosis
- Treatment
- Prognosis
A
- Acquired aphasia and seizures, GTC, complex partial, myoclonic
- Ages 3-8
- MRI normal. EEG multifocal spikes, Temporal
- Valproate, Lamotrigine, in some patients Corticosteroids
- 50% patients have persistent language deficits
9
Q
Childhood Absence Epilepsy
- Age Onset
- Features
- Diagnosis
- Treatment
- Prognosis
A
- Peak age of six. Girls>Boys
- Absence seizures, developmentally normal, sometimes provoked by hyperventilation or hypoglycemia. Some have GTCs. Related to T-type Calcium channels in the thalamus.
- Symmetric bilateral 3-Hz spike-and-wave on EEG. Use hyperventilation and photic stimulation to elicit.
- Ethosuximide, Valproate, Lamotrigine
- 80-90% remit by adulthood. D/C AED after seizure-free 1-2 years w/normal EEG
10
Q
Progressive Myoclonic Epilepsy
- Names of 5 PME Syndromes
- Clinical Features
- Treatment
A
- Lafora Body Disease, Unverricht-Lundborg Disease, Neuronal ceroid-lupofuscinosis, Myoclonic epilepsy with ragged red fibers, Siaidoses
- Deterioration in cognition, Generalized epilepsy (myoclonic, tonic, or tonic-clonic)
- Valproate is first line. Clonezepam and lamotrigine are used as well.
11
Q
Juvenile Myoclonic Epilepsy
- Age of Onset
- Clinical Features
- Genetics
- Diagnosis
- Treatment
- Prognosis
A
- Ages 8-24
- Developmentally normal, Myoclonic, Generalized, Absence seizures. GTC upon awakening.
- 50% Family History of seizures, but idiopathic for many
- EEG 4-6 Hz Polyspike-and-wave discharges. 3 Hz if Absence is present
- Valproate, Lamotrigine, levetiracetam, topiramate, zonisamide. No Carbamazepine or phenytoin as they worsen seizures.
- Treatment usually lifelong
12
Q
Neurofibromatosis Type 1
- Genetics
- Skin Findings
- Neurologic Findings
- CNS Tumors
- Other organ involvement
- Management
A
- NF1 AD, 17q.11.2
- Cafe au lait spots during year 1, Neurofibromas during adolescence and adulthood
- Macrocephaly, developmental delay
- Optic pathway glioma, Pilocytic astrocytomas
- Lisch nodules, sphenoid wing dysplasia, scoliosis, pseudoathroses of long bones. Renal artery stenosis, Moyamoya syndrome, rarely Pheochromocytoma, malignant peripheral nerve sheath tumors
- MRI brain not needed as a screen, developmental screening for increased risk of low Iq, head circumference measurements, yearly eye exams
13
Q
Neurofibromatosis Type 2
- Genetics
- Skin findings
- Neurologic findings
- CNS Tumors
- Othe organ involvement
- MRI brain for baseline and then yearly after diagnosis until age 40
A
- NF2, AD, Gene product Merlin
- NF2 Plaques (raised hyperpigmented areas)
- Deafness, gait instability, symptom onset ages 18-24
- Bilateral vestibular schwannomas, other schwannomas, meningiomas, ependymomas
- Cataracts (85%)
14
Q
Tuberous Sclerosis Complex
- Genetics
- Skin findings
- Neurologic findings
- CNS Tumors
A
- TSC1 and TSC2 on 9q34.3, 16p13.3, AD, Gene product Hamartin and Tuberin respectively
- Ash-leaf spots, facial angiofibromas and adenoma sebaceum, ungual fibromas, shagreen patches (forehead fibrous plaques on the forehead)
- Seizures (partial or generalized), mental retardation, infantile spasms, cortical tubers
- Subependymal giant cell astrocytomas (SEGA)
15
Q
Lesions in patients with Tuberous sclerosis complex:
- Brain
- Retina
- Skin
- Heart
- Kidney
- Lung
- Liver
- Pancreas, GI, Endocrine
- Vascular
A
- SEGA
- Astrocytic hamartoma
- Facial angiofibroma, Ungual fibroma, Shagreen plaque
- Rhabdomyoma
- Angiomyolipoma
- Lymphangioleiomyomatosis
- Angiomyolipoma
- Islet cell adenoma, Hamartomatous polyp, Angiomyolipomas (Adrenals), Papilliform adenoma and Fetal thyroid adenoma (Thyroid)
- Aneurysm
