Pediatric Neurological Disorders

Question 1

Pediatric Headache

Answer 1

• Common during childhood, increasing in frequency, & incidence during adolescence
• Epidemiology:
  
  • 40% of children experience a HA by 7 years old & 75% will by 15
• *Migraines more difficult to diagnose in children because they are expressed differently
• HA diaries
• *Not all HA meds used in adults are approved in children

Question 2

Pediatric Seizure

Answer 2

• Etiology & criteria for diagnosis of epilepsy are much the same as in adults. Febrile seizures more common in pediatrics
• Tx:
  
  • Med dosage & serum drug levels will need to be careful monitored/adjusted with child growth
  • -Ketogenic diet
  • -Surgery: if refractory to meds & other treatments

Question 3

Infantile Spasms

Answer 3

• Definition:
  
  • specific type of seizure seen in epilepsy syndrome known as WEST SYNDROME. Onset 4-8 months.
• Poor intellectual prognosis d/t neurological impairment prior to onset of spasms
• S/sxs:
  
  • *Happen in clusters
  • -Infantile spasms: occur just before sleep or upon awakening
  • -Developmental regression
  • -Specific EEG changes
• PE:
  
  • Brief Symmetric contractions of extremities, trunk, neck muscles: sudden bending forward of the body with stiffening of the arms/legs, some arched backs at they extend
• Dx:
  
  • EEG: hypsarrhythmia pattern (chaotic waveforms)
  • -MRI: preferred test
• Tx:
  
  • Spasms usually resolve by mid-childhood but > 50% will develop other types of seizures
  • -ACTH, vigabatrin, ketogenic diet

Question 4

Pediatric Stroke

Answer 4

• Definition:
  
  • stroke occuring from age 1mo -18 years. Rare but also top 10 cause of death in childhood
• Types:
  
  • -Ischemic: 50%
  • -Hemorrhagic: 50%
• Perinatal Stroke:
  
  • -occurs during later stages of pregnancy through 30 days of age; Red flags: congenital heart disease, infections, placental disorders
• PE:
  
  • thorough neurological exam
• Dx:
  
  • Often unrecognized for a long period of time
  • CT/MRI: early imaging = important!!
• Tx:
  
  • Overall mortality rate: 3-20% (x2 in black children)
  • -Referral to pediatric neurology &/or specialty center
  • -Supportive tx
  • -Hemorrhagic: surgical & endovascular tx
  • -*Thrombolytics are being investigated for pediatric stroke

Question 5

Spina Bifida

Answer 5

• Pathophys:
  
  • defective closure of the neural tube at the end of week 4 of the gestational period. → leads to anomalies of the lumbosacral vertebrae or spinal cord
• Epidemiology:
  
  • most frequent permanently disabling birth defect
• Forms:
  
  • Meningomyelocele: most severe, spinal cord or nerve roots exposed on back in sac
  • -Meningocele: rare, onl meninges exposed
  • *Both associated with latex allergy
• S/sxs:
  
  • *Range of severity from physical defects to total paralysis & incontinence
  • -Simple dimple or tuft of hair over affected area
  • -Cyst-like structures +/- nerve involvement
  • -Meningomyelocele: area covered with sores +/- CSF leaks, leg paralysis, & incontinence.
  • -Meningocele: underlying Spinal Cord is anatomically & functionally intact, no neuro deficits
• Tx:
  
  • PREVENTION =** **FOLIC ACID
  • -Meningomyelocele: immediate surgical closure
  • -Meningocele: surgical repair

Question 6

Arnold-Chiari Malformations

Answer 6

• Definition:
  
  • cerebellum herniation through the foramen magnum
• S/sxs:
  
  • Occipital headache that radiates upward and worsens with valsalva
  • -Visual or balance problems
  • -Cranial Nerve compression
  • -Muscle Weakness
• PE:
  
  • Associated with hydrocephalus d/t compression of 4th ventricle
• Tx:
  
  • Pain management vs surgical decompression

Question 7

Hydrocephalus

Answer 7

• Definition:
  
  • slow accumulation of CSF over weeks to months → ventricular distention & increased ICP
• Etiology:
  
  • obstruction vs overproduction of CSF
• S/sxs:
  
  • Increased head circumference
  • -Bulging anterior fontanelle
  • -Frontal bossing
  • -CN III or CN VI dysfunction
  • -Papilledema
• Pe:
  
  • -Bradycardia
  • -HTN
  • -Altered respiration
• Dx:
  
  • -CT scan: if head circumference > 2nd percentile lines or if symptomatic
• Tx:
  
  • Symptomatic relief: loop diuretics, acetazolamide
  • Surgery: remove obstruction, ventriculo-peritoneal shunt

Question 8

Duchenne Muscular Dystrophy

Answer 8

• Definition:
  
  • a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. The disease is caused by mutations in DMD (encoding dystrophin) that abolish the production of dystrophin in muscle
• Etiology:
  
  • X-linked recessive disorder (affects males)
• Epidemiology:
  
  • most common hereditary neuromuscular disease
• Progression:
  
  • starts at 3 yo & fully expressed by 5-6yo, wheelchair bound by 10yo, death by 18-20yo
• Complications:
  
  • Cardiomyopathy
• S/sxs:
  
  • Progressive weakness: waddling gait, inability to rise from ground easily
  • Gower’s sign: use hands to push up from floor to standing
  • -Intellectual impairment
  • Proliferation of connective tissue in muscle: hypertrophy of calves
• PE:
  
  • Slower to develop motor milestones: walking, climbing stairs
• Dx:
  
  • -Muscle Biopsy: muscle fiber degeneration & regeneration with connective tissue
  • -Absence of dystrophin (Ig Protein)
  • -EMG: assesses muscle weakness
  • -Serum CPK: markedly elevated
• Tx:
  
  • Symptomatic: glucocorticoids
  • -New therapies: gene therapy, creatine, aminoglycosides

Question 9

Neurofibromatosis

Answer 9

• Definition:
  
  • Autosomal dominant genetic disorder that causes tumors (neurofibromas) to form on nerves
• Types:
  
  • Type 1: more common, peripheral type
  • -Type 2: central type, incurable disease
• PE:
  
  • cafe au lait spots: flat, irregularly shaped, light brown macules present at birth
  • -Neurofibromas: soft or firm pedunculated tumors along nerve
  • -Axillary/groin freckling
  • -Learning disability (40%)
  • -short stature, macrocephaly

Question 10

Pediatric Brain Tumor

Answer 10

• Primary malignant CNS tumors are the 2nd most common childhood malignancies (after heme). Leading cause of death from childhood cancer.
• S/sxs:
  
  • Ha
  • -N/V
  • -Loss of balance
  • -Speech problems
  • -sleepiness
  • -personality changes
  • -Seizures
  • -increased head circumference
• PE:
  
  • *findings may be subtle &/or nonspecific & vary with child’s age & tumor location
• Dx:
  
  • CT/MRI