Pediatric Neurology
Terms
undefined, object
copy deck
-
â–¡ Affects 1:3000
â–¡ 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…
â–¡ > -
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
-
â–¡ Impairment with tumor suppressors hamartin and tuberin
â–¡ 1:150,000
â–¡ 50% risk of passing to child if either parent is carrier
â–¡ 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) -
â–¡ Unknown cause
â–¡ S/Sx: head tremors, unsteady gait, speech problems, loss of DTR's/vibratory/positional sensation, telangiectasias on eyes, upper chest and head.
â–¡ Susceptible to Ca or poor immune, endocrinopathies, most pts die by 30 -
f. Ataxia-Telangiectasia
§ (Louis-Bar Syndrome) -
â–¡ Found on the face, neck, scalp, trunk or extremities
â–¡ 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.
overgrow -
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
â–¡ Head is excessively large or grows at a rapid rate
S/Sx:
â–¡ 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.
â–¡ Do not live beyond 6-12 months. - hydrocephaly
-
§ May result from premature closure of the sutures (craniosynostosis: Tx <6mos!)
â–¡ Positional plagiocephaly-frontal bosing-forward ear
â–¡ 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
§ N/V
§ Seizures
§ Fever
§ Visual/Focal cerebral S/Sx (incl. loss of consciousness -
§ Meningitis
SSX -
â–¡ Nuchal rigidity
â–¡ Fever
â–¡ Irritability
â–¡ Intractable h/a unable to be controlled by meds
â–¡ Lethargy
â–¡ Inconsolable
â–¡ 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
- Infection:
-
§ Can last 4-72 hrs
§ 2 or more of:
-photo/phonophobia
-N/V
-aggr. by routine phys. activity
-unilateral location
-pulsating
Scintilating scotoma
-mod/severe intensity - c. Migraines
-
c. Migraines
TX -
â–¡ Feverfew, butterburr
â–¡ Riboflavin
â–¡ CoQ10
â–¡ Magnesium -
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, - ICP
-
§ 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 -
VI.
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
§ Ha - 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
§ Melatonin
§ Vits/Mins/AA’s
B6
folate
thiamin
taurine
zinc
Mg
dimethyl/trimethylglucine
vit E
Se - § 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
-
Tic
â–¡ Involuntary, sudden, repetitive movements or vocalizations. - Tic
- vocal and motor varieties lasting greater than a year
- Tourette syndrome
-
â–¡ "Chill" like movement
â–¡ flexion of head, arms, legs, torso, adduction
â–¡ 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.
- Chorea
- lowly writhing body movements prominent on one side of the body.
- Choreoathetosis
-
§ 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
â–¡ Quadriplegia--90% are profoundly retarded.
â–¡ Diplegia--Legs more than arms
â–¡ Hemiplegia--One side
â–¡ Paraplegia--Legs only
â–¡ Monoplegia--One extremity
â–¡ Triplegia--3 extre - Cerebral Palsy
-
â–¡ 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