Peds Neurology

Peds Neurology section provides High Yield Information needed for Medical School and Residency. It contains pediatric neurological diseases that are High Yield for the boards and USMLE Step 1,2,3 and COMLEX Level 1,2,3.

Cranial disorders

Anencephaly

• Presentation:
  • – Large skull defects
  • – Virtually no cortex
  • Most are stillborn

Bacterial Meningitis

• Presentation:
  • – Fever
    
  • – Increased ICP
    
  • (vomiting, altered mental status, headache)
    
  • – Nuchal rigidity
    
• Complications:
  
  • – Hearing loss
    
  • – Intellectual disability
    
  • – Cerebral palsy
    
  • – Epilepsy

Caput Succedaneum

• Path:
  • Scalp swelling superficial to the periosteum
    
• Etiology:
  
  • – Trauma due to vertex delivery
    
• Presentation:
  
  • – Crosses suture lines

Cephalohematoma

• Path:
  • Subperiosteal hemorrhage
    
• Etiology:
  
  • – Birth trauma
    
  • (forceps, vacuum)
    
• Presentation:
  
  • – Does not cross suture lines
    
  • – Firm, nontender
    
  • – No skin discoloration
    
  • Resorbs spontaneously within wks to months
    
  • Increased risk for hyperbilirubinemia

Cerebral Palsy (CP)

• Etiology:
  • A nonprogressive disorder characterized by motor and postural dysfunction
  • Prevalence = 2/1000
  • – Prematurity
  • – Periventricular leukomalacia (PVL)
  • – Stroke
  • – Perinatal asphyxia
  • – Chorioamnionitis
  • – Intrauterine growth retardation
  • Gross Motor Function Classification System (GMFCS) used to categorize functional motor impairment in children with CP
• SPASTIC QUADRIPLEGIA:
  • – Due to global brain abnormalities
  • – Involves the entire body
• SPASTIC DIPLEGIA:
  • – Due to periventricular leukomalacia (prematurity)
  • – Affects LE > UE
• Dyskinetic CP:
  • – Due to basal ganglia, thalamus, cerebellum abnormalities (stroke)
  • – Involves the entire body, but variable
• ATAXIC CP:
  • – Due to cerebellum abnormalities
  • – Involves the entire body

Craniopharyngiomas

• Location:
  
  • – Sella turcica
    
• Presentation:
  • – Visual field defects
    
  • – Hormonal deficiencies

Craniosynostosis

• Path:
  • Premature fusion of one or more cranial sutures
    
  • Results in abnormally shaped heads

Encephalocele

• Presentation:
  
  • – Protrusion of cranial contents through skull defect in occipital regions
    
  • – Intellectual disability
    
  • – Seizures
    
  • – Motor deficits
• Complications:
  •  Hydrocephalus

Ependymomas

• Path:
  
  • – Glial cell tumor
    
  • – Arise from ependymal cell lining of ventricles and spinal cord
    
• Location:
  
  • – 4th ventricle in posterior fossa

Glioblastomas

• Location:
  
  • – Supratentorial
    
  • – Cerebral hemispheres

Headache

Head Injury

Hydrocephalus

• Presentation:
  • – Tense and bulging fontanelle
  • – Prominent scalp veins
  • – Wide cranial sutures
  • – Rapidly increasing head circumference
• Communicating:
  • – All ventricles proportionally enlarged
  • – CSF absorption at arachnoid villi is impaired secondary to meningitis, subarachnoid hemorrhage, or leukemia
• Noncommunicating:
  • – Blocks exist within the ventricular system, often in the cerebral aqueduct
• Treatment:
  • – VP shunt

Medulloblastoma

• Path:
  • Arise from cerebellar vermis

Macrocephaly

• Etiology:
  • – Familial
  • – Cranioskeletal dysplasia
  • – Storage diseases
  • – Hydrocephalus

Microcephaly

• Etiology:
  
  • – t21
    
  • – Angelman syndrome
    
  • – Maternal drug ingestion
    
  • – Congenital infection
    
  • – Insufficient placental blood flow

Periventricular Leukomalacia (PVL)

• Etiology:
  
  • – Hypoxia
    
  • – Ischemia
    
  • – Inflammation
    
• Pathology:
  
  • – Damage to white matter surrounding ventricles
    
  • High correlation with cerebral palsy
     

Pilocytic Astrocytoma

• Presentation:
  • Most common brain tumor in children

Positional Plagiocephaly

• Presentation:
  • Benign flattening of the back of head, often in infants sleeping exclusively on backside
    
• Treatment:
  
  • – Soft helmet fitted by a plastic surgeon

Subgaleal Hemorrhage

Neurological disorders

ADHD

• Presentation:
  
  • – Inattention
    
  • – Hyperactivity
    
  • – Impulsivity
    
• Management:
  
  • – Methylphenidate
    
  • – Dextroamphetamine
    
  • – Mixed amphetamine salts
    
  • – Lisdexamfetamine
    
    • (increase availability of DA and NE. Adverse effects include insomnia, HTN, nausea, anorexia)
      
  • – Atomoxetine
    
  • – Clonidine
    
  • – Guanfacine

Ataxia Telangiectasia

• Path:
  • Autosomal recessive
    
  • Chromosome 11
    
  • – Mutation in the gene responsible for the repair of dsDNA breaks
    
• Presentation:
  • – Progressive cerebellar ataxia
    
  • – Oculocutaneous telangiectasias
    
  • – Increased incidence of malignancy

Autism Spectrum Disorder (ASD)

• Etiology:
  • Developmental disorder primarily interfering with healthy social interaction
  • Prevalence = 1/68
• Associations:
  • – Fragile X Syndrome
  • – Rett Syndrome
  • – Tuberous Sclerosis
• Presentation:
  • – No babbling and/or gesturing by 12mo
  • – No 2-word phrases by 24mo
  • – Impaired social interaction
  • – Restricted interests
  • – Insistence on routine
• Screening:
  • – Recommended routine screening at 18 mo and 24 mo visits
  • – M-CHAT

Becker Muscular Dystrophy

• Path:
  • X-linked recessive
    
  • Deletion of dystrophin
    
• Presentation:
  
  • – Onset at age 5-15
    
  • – Mild weakness
    
• Comorbidities:
  
  • – Cardiomyopathy
    
• Prognosis:
  
  • – Death by age 40-50 from heart failure

Botulism

• Etiology:
  
  • – Ingestion of spores in honey
    
  • – Inhalation of soil botulism spores in dust in CA, PA, or Utah
    
• Presentation:
  
  • – Ptosis
    
  • – Poor suck
    
  • – Poor gag
    
  • – Descending flaccid paralysis
    
  • – ANS symptoms
    
  • (drooling, constipation)
    
• Treatment:
  
  • – Respiratory support
    
  • – NG tube
    
  • -IV botulism Ig

Duchenne Muscular Dystrophy (DMD)

• Path:
  • X-linked recessive
  • Deletion of dystrophin gene
• Presentation:
  • – Age 2-3
  • – Progressive weakness
  • – Gower sign
  • – Calf pseudohypertrophy
  • – Dyslexia, dysgraphia, dyscalculia
• Comorbidities:
  • – Scoliosis
  • – Cardiomyopathy
• Prognosis:
  • – Wheelchair dependence by adolescence
  • – Death by 20-30 from respiratory or heart failure

Fragile X Syndrome

• Path:
  • X-linked
    
  • Trinucleotide repeat (CGG)
    
  • Mutation of FMR-1
    
• Presentation:
  • – Neurobehavioral problems
    
  • – Long face
    
  • – Large mandible
    
  • – Large ears
    
  • – Macroorchidism

Friedreich Ataxia

• Path:
  • Autosomal recessive
  • Trinucleotide repeat (GAA)
  • Chromosome 9
  • – Abnormal Frataxin protein
• Presentation:
  • – Hypertrophic cardiomyopathy
  • – Scoliosis
  • – Wide based gait
  • – Diabetes mellitus
  • – Neurologic symptoms
  • (dysarthria, loss of DTR, ataxia, loss of position sense, loss of vibratory sense)
• Prognosis:
  • – Death by 30-40 yrs due to cardiomyopathy
• Treatment:
  • – PT
  • – Psychological support

Galactosemia

• Path:
  • Galactose-1-phophsphate uridyl transferase deficiency
    
• Presentation:
  
  • – Bilateral cataracts
    
  • – Jaundice
    
  • – Hypoglycemia
    
  • – Vomiting
    
  • – Hepatomegaly
    
  • – Convulsions
    
  • – Cataracts
    
  • Increased risk for E. coli neonatal sepsis

Guillain-Barré Syndrome

• Path:
  • – Autoimmune mediated demyelination of peripheral nerves
  • – Follows C. jejuni or URI
  • – Ascending demyelination
• Presentation:
  • – Paresthesia
  • – Neuropathic pain
  • – Symmetric, ascending weakness
  • – Decreased DTR
  • – Autonomic dysfunction
  • – Respiratory compromise
• Diagnosis:
  • – Clinical
  • – Supportive findings
• Management:
  • – Monitor autonomic and respiratory function
  • – IVIG

Homocystinuria

• Path:
  • Autosomal recessive
  • – Error in methionine metabolism
  • – Cystathionine synthase deficiency
• Presentation:
  • – Pectus deformity
  • – Tall stature
  • – Arachnodactyly
  • – Joint hyperlaxity
  • – Skin hyperlaxity
  • – Scoliosis
  • – Intellectual disability
  • – Thrombosis
  • – Downward lens dislocation
  • – Megaloblastic anemia
  • – Fair complexion
• Complications:
  • – Stroke
  • – Coronary artery disease
  • – Venous thromboembolic events
• Treatment:
  • – Vitamin B6
  • – Folate
  • – Vitamin B12
  • – Anticoagulation

Lesch-Nyhan Syndrome

• Path:
  • X-linked
  • – Deficiency of hypoxanthine guanine phosphoribosyltransferase
    
  • – Accumulation of hypoxanthine and uric acid
    
• Presentation:
  • – Delayed milestones
    
  • – Hypotonia in infancy
    
  • – Dystonia, chorea
    
  • – Spasticity, hyperreflexia
    
  • – Self mutilation
    
  • – Gouty arthritis if untreated

Myasthenia Gravis

• Path:
  
  • – Autoantibodies against postsynaptic ACh receptor
    
• Presentation:
  
  • – No ANS symptoms
    
  • – Fluctuating generalized hypotonia
    
  • – Ptosis
    
  • – Easy fatigability
    
  • – Improves with rest
    
• Treatment:
  
  • – Thymectomy
    
  • – Pyridostigmine
    
  • – Corticosteroids

Myotonic Dystrophy

• Path:
  • Autosomal dominant
    
  • Expansion of CTG trinucleotide repeat
    
• Presentation:
  
  • – Age 12-30
    
  • – Facial weakness
    
  • – Handgrip
    
  • – Myotonia
    
  • – Dysphagia
    
• Comorbidities:
  
  • – Arrhythmias
    
  • – Cataracts
    
  • – Balding
    
  • – Testicular atrophy/ infertility
    
• Prognosis:
  
  • – Death from respiratory or heart failure

Neurofibromatosis Type 1

• Path:
  • Autosomal dominant
    
  • Chromosome 17
    
  • Mutated neurofibromin
    
• Presentation:
  • – 6+ cafe-au-lait spots
    
  • – Optic gliomas
    
  • – Neurofibromas
    
  • – Renovascular HTN
    
  • – Scoliosis
    
  • – Lisch nodules

Neurofibromatosis Type 2

• Path:
  • Chromosome 22
  • Mutated merlin
• Presentation:
  • – Bilateral acoustic neuromas

Niemann-Pick Disease

• Path:
  • Sphingomyelinase deficiency
    
  • Autosomal recessive
    
  • Ashkenazi Jewish heritage
    
  • Onset: 2-6 months
    
• Presentation:
  
  • – Loss of motor milestones
    
  • – Hypotonia
    
  • – Feeding difficulty
    
  • – Cherry-red macula
    
  • – Hepatosplenomegaly
    
  • – Areflexia

Neuroblastomas

• Path:
  • Tumors arising from SNS ganglionic cells
    (neural crest cells)
    
• Presentation:
  
  • – Abdominal mass along the adrenal gland
    
• Metastasis:
  
  • – Long bones
    
  • – Skull
    
  • – Liver
    
  • – Lymph nodes
    
  • – Skin
    
• Labs:
  
  • – Elevated catecholamines and metabolites (HVA and VMA)
    
• X-RAY/CT Findings:
  
  • – Calcifications and hemorrhage

Phenylketonuria

• Path:
  • Autosomal recessive
  • – Mutated Phenylalanine hydroxylase
  • – Failure to convert Phe to Tyr
  • – High Phe levels
  • – Neurologic injury
• Presentation:
  • – Intellectual disability
  • – Seizures
  • – Musty odor
  • – Hypopigmentation
• Diagnosis:
  • – Newborn screen
  • – Quantitative AA analysis
• Treatment:
  • – Dietary restriction of Phe
  • – Supplemental Tyr

Rett Syndrome

Spina Bifida

• Etiology:
  • – Genetic disorders
  • – Folate deficiency
• Path:
  • – Caudal spine fails to form
• Presentation:
  • – Tuft of hair
  • – Opening of posterior spinal cord
  • 95% chance of having hydrocephalus
• Associations:
  • – Arnold Chiari malformation
  • – Hydrocephalus
  • – Developmental delay
  • – Focal neurologic deficit below the level of lesion leading to the sensory, motor, or bladder dysfunction
• Diagnosis:
  • – Increased AFP
  • – Ultrasound

Sturge-Weber Syndrome

• Path:
  • Mutation in the GNAQ gene
• Presentation:
  • – Port wine stain over V1
  • – Leptomeningeal capillary-venous malformation
  • – Intellectual disability
  • – Seizures
  • – Hemiparesis
  • – Visual impairment
  • – Glaucoma
• Diagnosis:
  • – MRI of the brain with contrast
• Management:
  • – Laser therapy
  • – Antiepileptic drugs
  • – Intraocular pressure reduction

Tay-Sachs Disease

• Path:
  • Beta-hexosaminidase A deficiency
    
  • Autosomal recessive
    
  • Ashkenazi Jewish heritage
    
  • Onset: 2-6 mo
    
• Presentation:
  
  • – Loss of motor milestones
    
  • – Hypotonia
    
  • – Feeding difficulty
    
  • – Cherry-red macula
    
  • – Hyperreflexia

Todd Paralysis

• Path:
  • Self-limited, focal weakness following seizures
    
• Presentation:
  • postictal period with hemiplegia
    
• Diagnosis:
  • Order CT or MRI to rule out emboli or intracranial bleeding

Tuberous Sclerosis

• Path:
  • Autosomal Dominant
    
  • Mutated tuberin
    
• Presentation:
  • – Ashleaf spots
    
  • – Shagreen patches
    
  • – Facial angiofibromas
    
  • – Retinal hamartomas
    
  • – Cortical tubers
    
  • – Cardiac rhabdomyoma
    
  • – Renal cysts
    
  • – Seizures
    
• Treatment:
  
  • – Antiepileptics
    
  • – Surgical removal of tumors

Werdig-Hoffman Syndrome (Spinal Muscle Atrophy Type 1 (SMA1))

• Presentation:
  
  • – Hypotonia
    
  • – Absent DTR
    
  • – Loss of suck/swallow/breath
    
  • – Tongue fasciculation
    
• Treatment:
  • No treatment available

Seizures

Absence Seizures

• Presentation:
  
  • – Occurrence during all activities
    
  • – Length <20 seconds
    
  • – Lack of response to vocal or tactile stimuli
    
  • – May be accompanied by automatisms (eyelid fluttering, lip-smacking)
    
• TREATMENT:
  
  • – Ethosuximide

Febrile Seizures

• Presentation:
  • – Fever >38 C
  • – Normal development
  • – Typically generalized seizures
    
• SIMPLE:
  • – < 15 minutes
  • – once within 24 hours
  • – generalized
• COMPLEX:
  • – > 15 min
  • – more than 1 episode
  • – focal
• Treatment:
  • – Acetaminophen or ibuprofen
  • – Safety precautions
  • – No antiepileptic medications
  • Consider LP in child <18 mo as signs of meningitis may be subtle

Generalized Tonic Clonic Seizure

• Presentation:
  • – Abrupt beginning with rigid stiffening of extremities
  • – Upward deviation of eyes
  • – Clonic jerks of all extremities
  • – Flaccid ending during which urinary incontinence may occur