Glossary of Pediatric Neurology
Other Decks By This User
- □ Affects 1:3000
□ Neurofirbromin is a tumor suppressor that is altered
□ S/Sx: Café au lait spots, freckling of axilla or inguinal areas, skin neurofibromas, and iris hamartomas (lisch nodules).
DX: 2 or more of…
- b. Neurofibromatosis 1
§ (von Recklinghausen neurofibromatosis)
- § Affects 1:50,000 Schwannomin is a tumor suppressor that is affected
§ S/Sx: impaired auditory discrimination, hearing loss, tinnitus, unsteadiness, facial weakness
- c. Neurofibromatosis 2
- □ Impairment with tumor suppressors hamartin and tuberin
□ 50% risk of passing to child if either parent is carrier
□ S/Sx: seizures, MR, intracranial calcification, tumors, angiofibroma, other skin lesions (shagreen
- d. Tuberous sclerosis
§ (Bourneville’s Dz)
- □ S/Sx: port wine stain in trigeminal nerve distribution, ipsilateral ocular problems like glaucoma and bupthalmos (swelling/pushing out of the eyeball). Seizures in 1st year of life. Refer to opthlamology.
- e. Sturge-Weber syndrome
§ (Encephalofacial Angiomatosis)
- □ Unknown cause
□ S/Sx: head tremors, unsteady gait, speech problems, loss of DTR's/vibratory/positional sensation, telangiectasias on eyes, upper chest and head.
□ Susceptible to Ca or poor immune, endocrinopathies, most pts die by 30
- f. Ataxia-Telangiectasia
§ (Louis-Bar Syndrome)
- □ Found on the face, neck, scalp, trunk or extremities
□ Risk of malignant degeneration leads to surgical excision
sometimes MR or Sz. If lesion is in mid-face->higher chance of sz development or other CNS infvolvement.
- g. Linear sebaceous nevus
§ (nevus sebaceous of Jadasshon)
- § Make sure to take serial measurements, follow development, serial neuro exams, cranial bruits, organomegaly
- b. Macrocephaly
- Caused by an imbalance between CSF production and resorption
□ Head is excessively large or grows at a rapid rate
□ Older child: H/A, personality change, deterioration in school performance, papilledema, abducens nerve palsy.
- c. Hydrocephalus
- § Absence of brain hemispheres
§ S/Sx: deceptively nml at birth, then develop developmental arrest, decerebration, hyperotnia, hyperreflexia.
□ Do not live beyond 6-12 months.
- § May result from premature closure of the sutures (craniosynostosis: Tx <6mos!)
□ Positional plagiocephaly-frontal bosing-forward ear
□ Craniosynotosis-head grows out on one side. Ear doesn't move on affected side. Usually has bony r
- f. Microcephaly
- IV. Headaches
a. When to be concerned:
- § 1st or Worst
§ Recent onset, progressive
§ Awakens from sleep
§ Worse in A.M. or w/Valsalva
§ Visual/Focal cerebral S/Sx (incl. loss of consciousness
- § Meningitis
- □ Nuchal rigidity
□ Intractable h/a unable to be controlled by meds
□ High pitched cry
§ Older than 7 months, fever, febrile sz. --okay
§ Less than 6 months, febrile sz more rare --most likely meningitis
- Mild/mod H/A, dull, chronic, rarely severe
- Brain Tumors/SOL’s
- alt. mental status, abnml neuro sx, anisocoria (unequal pupils), tachypnea
- Incr. ICP:
- mild/mod H/A, but clinical picture is severe. Meningitis: photophobia, papilledema
- § Can last 4-72 hrs
§ 2 or more of:
-aggr. by routine phys. activity
- c. Migraines
- c. Migraines
- □ Feverfew, butterburr
- Infants/small children--excessive rate of head growth, frontal prominence, listlessness, irritability, poor feeding, vomiting, FTT, paresis of downward gaze, hyperactive reflexes, high-pitched cry
Older children--h/a, vomiting, visual disturbances,
- § Lesion of the 7th CN results in entire hemiplegia of that side of the face.
§ S/Sx: Inability to smile, frown, wrinkle forehead or close eye on affected side.
§ Causes: bell's palsy, tumors, trauma, infection
Peripheral facial weakness
- § Lesion is above the level of the facial n. nucleus (upper motor neuron lesion)
§ S/Sx: weakness of the lower part of the face on the opposite side.
- Central facial weakness
- § Progressive degeneration of skmm.
§ 1:3500 male births
§ symmetrical involvement of pelvic and shoulder girdles
§ S/Sx: clumsy gait, difficulty in standing, accentuated lumbar lordosis, forward thrust of abdomen, laxity of shoulde
- Duchenne's Muscular dystrophy
- § "Hereditary motor-sensory neuropathy type 1"
§ Onset usually in the 2nd decade, but foot problems may show up in early childhood
§ S/Sx: insidious weakness and atrophy in the foot and leg mm, wasting of the hand mm
- Charcot-Marie-Tooth dz
- § Rare disorder that shows flaccid paresis of the arms resulting in flexion contractures.
§ Present at birth.
§ Lack of palmar creases; non-progressive
- Congenital cervical spinal atrophy
- § Inherited disorder of skmm
§ S/Sx: mm stiffness is the only complaint, which gets better with activity. Clumsy and awkward gait may manifest.
§ Thenar contraction that lasts several seconds when hit w/reflex hammer
§ Cl channel
- Myotonia Congenita
- § Rag doll
§ Legs lie externally rotated and abducted, arms are either extended at the sides of the body or flexed by the head
§ Child shows extreme head lag
- c. Hypotonic infant
- b. Epilepsy Tx
- § Ketogenic diet
§ O-3’s PUFA’s
- § 5-20 sec, characterized by sudden staring or arrest of activity with abrupt recovery. They are associated with prodromal activities such as eye fluttering, chewing, or staring upwards.
- Absence seizures
- § Show up around 4-6 mos, and manifest as contractions of the neck, trunk, and extremities with the head thrown back or forward in association with limb movements.
Etiologies: metabolic disorders, cerebral malformations, congenital infxns, hypoxic
- Infantile spasms
□ Involuntary, sudden, repetitive movements or vocalizations.
- vocal and motor varieties lasting greater than a year
- Tourette syndrome
- □ "Chill" like movement
□ flexion of head, arms, legs, torso, adduction
□ Onset at infancy that resolves in childhood (benign)
- Shuddering attacks
- § Exaggerated startle response to stimuli
§ These patients often have hypertonia in infancy along with feeding difficulties and apnea.
§ Elicited by tapping on the glabella, head, nose, or forehead
§ Glycine gated channels, does n
- Startle Dz.
- Head bobbing
- § Benign
§ Nystagmus and head tilt often associated
§ Neuro exam otherwise nml
§ Lasts a few years then resolves, refer anyway
- random, brief, rapid, purposeless jerking of the limbs, face, tongue or trunk.
- lowly writhing body movements prominent on one side of the body.
- § choreiform movements that manifest after a strep infxn. Resolves after a few months.
§ S/Sx: chorea, emotional lability, hypotonia, behavior change, school performance affected, anxiety
§ -Other causes: Wilson dz, Huntington dz, SLE, hy
- Sydenham's chorea ("St. Vitus dance")
- § A. Spastic forms--75% of cases
□ Quadriplegia--90% are profoundly retarded.
□ Diplegia--Legs more than arms
□ Hemiplegia--One side
□ Paraplegia--Legs only
□ Monoplegia--One extremity
□ Triplegia--3 extre
- Cerebral Palsy
- □ Persistent hypotonia with variable degrees of weakness.
b. Other causes: intrauterine infxn, bleeding, toxins, congen. Malformations, kernicterus, neonatal hypoglycemia, acidosis, and some genetic syndromes.
§ High incidence among SGA ba
- Cerebral Palsy
- * S/Sx: mm hypertonicity, DTR's hyperreactive, early infants may appear "floppy". -Ataxia may be difficult to delineate d/t spasticity.
* -Microcephaly may be present in 25% of spastic quad/diplegics
* DDX: progressive deterioration
- Cerebral Palsy
You must Login or Register to add cards