Pediatric Conditions

  1. Enumerate Levine's Diagnostic Criteria for Cerebral Palsy
    • 1. Posture and movement patterns
    • 2. Oral motor patterns
    • 3. Strabismus
    • 4. Tone of muscles
    • 5. Evolution of landmarks and postural reactions
    • 6. Reflexes (deep tendon, infantile)
  2. Most common antecedent for CP spastic diplegia
    Prematurity (<37 weeks)
  3. Kernicterus triad
    • 1. Athetosis
    • 2. Irreversible sensorineural hearing loss
    • 3. Parinaud's disease (paralysis of upward gaze)
  4. Cushing's triad
    • 1. Cheyne-Stokes (irregular) respiration
    • 2. Bradycardia
    • 3. Hypertension (increased SBP)
  5. Other name for cerebral palsy
    Little's Disease
  6. Intraventricular hemorrhage grading: isolated to germinal matrix
    Grade I
  7. Topographic classification of CP: cannot be classified into diplegia or quadriplegia
    Triplegia
  8. CP type in which visual impairments (e.g. strabismus) are common
    Spastic diplegia
  9. Molnar prognosticating index (good)
    Walk, sit, crawl, primitive reflexes
    • 1. Spastic CP walks by 3 years old
    • 2. Sits by 2 years old
    • 3. Crawls on hands and knees by 1.5-2
    • 5 years old
    • 4. Absence of primitive reflexes by 18-24 months
  10. Warning signs of spina bifida occulta
    • 1. Pigmented nevus (cafe au lait spot)
    • 2. Hirsute's patch or Faun's beard
    • 3. Dimple or dermal sinus overlying skin
    • 4. Angioma
  11. Ultrasound finding in spina bifida
    Lemon sign
  12. Neural tube normally closes at
    28th day of gestation
  13. ACM type I
    Kinking of ventricles
  14. Neurologic level of spina bifida associated with kyphoscoliosis
    T6-T12
  15. Hydrocephalus triad
    • 1. Sun set eyes
    • 2. Cracked pot sign
    • 3. Cushing's triad
  16. CP type with straphanger appearance
    Spastic quadriplegia
  17. MC mixed type of CP
    Spastic athetoid
  18. Normal ICP for neonates
    60 mmHg (40-50 ml)
  19. Bleck's ambulation status criteria
    • (-) Moro reflex
    • (-) ATNR
    • (-) STNR
    • (-) Stepping reflex
    • (+) Parachute reflex
    • (-) Extensor thrust
    • (-) Neck righting reflex
  20. MC level of spina bifida occulta
    L5-S1
  21. Associated malformation of spina bifida which is an abnormal attachment of spinal cord at the distal end due to pulling of cauda equina or conus medullaris
    Tethered cord
  22. Displacement of cerebellum caudally with elongation and kinking of ventricles
    Arnold-Chiari malformation
  23. Neurologic level of spina bifida associated with severe hip dislocation
    L1-L3
  24. Neurologic level of spina bifida associated with sphincter control problems
    S3-S5
  25. MC complication of shunt
    Obstruction and infection
  26. MC orthopedic deformity in spina bifida
    Foot deformity (pes equinovarus)
  27. MC cause of death in spina bifida
    Hydrocephalus and renal failure
  28. MC form of hydrocephalus associated with spina bifida
    Communicating, obstructive hydrocephalus with type 2 ACM (herniation of midbrain and pons at posterior cranial fossa)
  29. Type 3 ACM
    Occipitocervical myelomeningocele
  30. Type 4 ACM
    Atrophy of cerebellum
  31. MC knee deformity in spina bifida
    Knee flexion contracture (due to prolonged sitting)
  32. Failure of closure of posterior element of spine
    Spina Bifida
  33. Neurologic level of spina bifida associated with mild hip dislocation and calcaneovalgus
    L4-L5
  34. Neurologic level of spina bifida associated with calcaneovarus
    S1
  35. Neurological level of spina bifida associated with claw toes
    S2
  36. Associated malformation of spina bifida which is defined as presentation of dysplastic neural tissue at the surface of the sac
    Myeloschisis
  37. Associated malformation with spina bifida which is a cystic defect communicating with central canal of spinal cord
    Myelocystocoele
  38. Associated malformation of spina bifida which is defined as fats within the central canal of the spinal cord
    Lipomeningocoele
  39. Associated malformation of spina bifida which are split cords with separate meningeal coverings
    Diplomyelia
  40. Associated malformation of spina bifida which is a post neurolation defect in the sagittal cleft of the spinal cord
    Diastematomyelia
  41. Associated malformation of spina bifida which is tubular cavitation in the spinal cord parenchyma lined with glial cells
    Syringomyelia
  42. Associated malformation of spina bifida which is a tubular cavitation extending to the brainstem
    Syringobulbia
  43. Etiologies of spina bifida
    • 1. Heat exposure (maternal fever, high environmental temperature)
    • 2. Environment (maternal obesity, low socioeconomic status, mid spring conception)
    • 3. Exposure to anticonvulsants (Valproic acid and Carbamazepine)
    • 4. Metabolic (folic acid deficiency)
  44. Bleck's ambulation status: (+) Parachute reflex, ATNR and Moro
    Poor
  45. Bleck's ambulation status: (+) Moro, (-) primitive reflexes
    Good
  46. Resulting bladder dysfunction in spina bifida if lesion is proximal to conus medullaris
    Urinary incontinence (due to spastic or reflexogenic bladder)
  47. Resulting bowel dysfunction in spina bifida
    Patulous anus, perianal sensory deficits, absence of cutaneous reflexes
  48. Parapodium + THKAFO; wheelchair for ALL functional mobility
    T6-T12
  49. RGO + HKAFO; wheelchair for most functional mobility; short household ambulation; standing and walking for physiologic benefits
    L1-L2
  50. Orthosis recommended for L3-L4 spina bifida
    KAFO
  51. Functional prognosis of L3-L4 spina bifida
    Household ambulation with limitation
  52. Orthosis and functional prognosis of L4-S1 spina bifida
    AFO + ground reaction force; household and community ambulation with limitation
  53. Foot/supramalleolar orthosis; household and community ambulation without limitation
    Below S1
  54. Trigonocephaly (premature fusion of forehead), cleft palate, clenched fist, microphthalmia, seizure, heart problems, hearing impairment
    Patau's Syndrome (Trisomy 13)
  55. Small mouth and jaw, small and abnormally shaped head, fluctuating muscle tone, skeletal malformation
    Edward's Syndrome (Trisomy 18)
  56. Flat occiput, flat nasal bridge, upward epicanthal fold, atlantoaxial instability, ligamentous laxity, hypotonia, mental retardation, simian crease, short stature
    Down Syndrome (Trisomy 21)
  57. XO chromosome leading to broad chest with wide set nipples, amenorrhea, absence of ovaries, webbed neck deformity (pterygium colli), and short stature
    Turner's (superwoman) Syndrome
  58. XXY chromosome leading to narrow shoulders, gynecomastia, wide pelvis, and undescended testes but normal cognition
    Klinefelter Syndrome
  59. Deletion of material in the short arm of chromosome 5 leading to hypotonia in infancy, microcephaly, hypertelorism, and high pitched cry
    Cri-du-chat Syndrome
  60. Involves chromosome 15 leading to insatiable appetite, overeating, malignant obesity, and type 2 DM
    Prader Willi Syndrome
  61. Gene locus for Duchene and Becker muscular dystrophy
    xp21.2
  62. Age of onset of DMD
    3-5 years old
  63. Common contractures seen in DMD
    • 1. Ankle plantarflexors
    • 2. Knee flexors
    • 3. Hip flexors
    • 4. ITB
    • 5. Elbow flexors
    • 6. Wrist flexors
  64. ECG abnormalities in DMD
    • 1. Q waves in lateral leads
    • 2. Elevated ST segments
    • 3. Poor R wave progression
    • 4. Resting tachycardia
  65. Age of onset of BMD
    10-15 years old
  66. Emery-Dreifuss Muscular Dystrophy triad
    • 1. AV block
    • 2. Progressive muscle weakness
    • 3. Early muscle contracture (hallmark: elbow flexion; others: ankle equinus, rigid spine, and neck extension)
  67. Muscles spared in FSHMD
    • 1. Deltoids
    • 2. Pharyngeal muscles
    • 3. Extraocular muscles
    • 4. Masseter
    • 5. Temporalis
  68. Mildest form of muscular dystrophy
    Fascioscapulohumeral Muscular Dystrophy (Dejerine-Landouzy)
  69. Muscular dystrophy in which facial muscles are spared
    Limb Girdle Muscular Dystrophy
  70. Muscular dystrophy resulting from defect on dysferlin and sarcoglycans
    Limb Girdle Muscular Dystrophy
  71. Inheritance pattern of LGMD type 1
    Autosomal dominant
  72. Inheritance pattern of LGMD type 2
    Autosomal recessive
  73. Gene locus of FSHMD
    4q35
  74. Gene locus for type 1 EDMD
    xq28
  75. Gene locus for type 2 EDMD
    Lamin A/C (1q21.2-3)
  76. Gene loci for myotonic muscular dystrophy
    • Type 1 (Steinert's Disease): 19q13.3 (dystrophia myotonia protein kinase)
    • Type 2 (Proximal Myotonic Myopathy): 3q21 (zinc finger protein 9)
  77. Decrease in acid maltase
    Pompe's Disease
  78. Decrease in de Brancher enzyme
    Cori's Disease
  79. Enzyme decreased in Tarui's Disease?
    Phosphofructokinase
  80. Enzyme decreased in Von Gerke's Disease
    Glycogen phosphorylase
  81. Decrease in liver phosphorylase
    Hers Disease
  82. Decrease in muscle phosphorylase
    McArdle's Disease
  83. Enzyme decreased in Andersen's Disease
    Brancher
  84. Congenital myopathy associated with grip and paradoxical myotonia
    Paramyotonia Congenita (Eulenberg's Disease)
  85. Congenital myopathy associated with tightness and hypertrophy of all major muscle groups
    Myotonia Congenita (Thomsen's Disease, Infantile Herculinism)
  86. Autosomal dominant congenital myopathy associated with floppiness, congenital hip dislocation, proximal muscle weakness, malignant hyperthermia when receiving general anesthesia, lack of mitochondria in core of muscle cells upon light microscopy
    Central Core Disease
  87. Gene locus of central core disease
    19q13.1
  88. Muscular dystrophy not associated with cardiac abnormalities
    Fascioscapulohumeral Muscular Dystrophy
  89. Onset of type 1 LGMD
    2nd-3rd decade
  90. Triad of myotonic muscular dystrophy
    • 1. Delayed muscle relaxation
    • 2. Stiffness triggered by cold
    • 3. Myotonic phenomenon
  91. MC motor disability of childhood
    Cerebral Palsy
  92. 2nd MC motor disability of childhood
    Spina Bifida
  93. According to American Academy of Pediatrics (AAP) guidelines, how much folic acid should women of childbearing age should take each day?
    0.4 mg/day
  94. According to American Academy of Pediatrics (AAP) guidelines, how much folic acid should women with previous NTD pregnancy should take each day?
    4 mg/day one month prior to conception AND through the first trimester
  95. According to American Academy of Pediatrics (AAP) guidelines, how much folic acid should women with high risk pregnancies (e.g. taking Valproic acid, has maternal diabetes) should take each day?
    4 mg/day
  96. Type of spina bifida that can have associated tethered cord with development
    Occulta
  97. MC type of spina bifida
    Meningomyelocele
  98. Type of spina bifida associated with hydrocephalus and Chiari type 2 malformations
    Meningomyelocele
  99. Absence of sacrum and portions of lumbar spine associated with maternal diabetes
    Caudal Regression Syndrome
  100. Associated findings of caudal regression syndrome
    • 1. Syringomyelia
    • 2. Anorectal stenosis
    • 3. Renal abnormalities
    • 4. External genital abnormalities
    • 5. Cardiac problems
  101. Most common clinical signs and symptoms of tethered cord
    • 1. Spasticity in lower extremities
    • 2. Decline in lower extremity strength
    • 3. Worsening scoliosis
  102. Spinal cord segment typically affected in syringomyelia
    Cervical
  103. Most severe symptom of Chiari type II malformation
    Respiratory compromise
  104. Signs of increased ICP with open fontanelles
    • 1. Lethargy
    • 2. Decreased feeding
    • 3. Bulging fontanelles
    • 4. Increased head circumference (greater than expected for age)
    • 5. Poor developmental progress
    • 6. Sun downing
  105. Signs of increased ICP with closed fontanelles
    • 1. Headache
    • 2. Drowsiness
    • 3. Vomiting
    • 4. Changes in behavior and personality
    • 5. Irritability
    • 6. Diplopia
    • 7. Papilledema
  106. Substance to which individuals with spina bifida are allergic
    Latex
  107. Depression formed between hypertrophied posterior deltoid and infraspinatus in children with DMD
    Posterior axillary depression sign
  108. First ECG abnormality to appear in children with DMD
    Q waves in lateral leads
  109. Facial muscles initially affected in FSHMD
    • 1. Orbicularis oculi
    • 2. Orbicularis oris
    • 3. Zygomaticus
  110. Common feature is disruption of sarcolemmal membrane cytoskeleton
    Sarcoglycanopathies (LGMD 2C-2F)
  111. Skeletal muscle protein localized in muscle cell membrane
    Dysferlin
  112. Congenital muscular dystrophy which presents in infancy with severe hypotonia, weakness, and wasting of face and limbs, occasional spasticity, large cheeks, kyphoscoliosis, microcephaly, seizures, severe mental retardation, and progressive hydrocephalus
    Fukuyama Congenital Muscular Dystrophy
  113. Congenital muscular dystrophy with less prominent muscle involvement but leads to blindness at birth and early death
    Walker-Warburg Syndrome
  114. Congenital muscular dystrophy caused by collagen VI abnormality (absent in skeletal muscles and capillaries)
    Ullrich Congenital Muscular Dystrophy
  115. Early onset FSHD that presents in infancy and has a fairly rapid progression; associated with sensorineural hearing deficit and progressive exudative telangiectasia
    Coates Syndrome
  116. Elicited by percussion of thenar eminence with a reflex hammer, giving an adduction and flexion of the thumb with slow return
    Percussion myotonia
  117. Delayed opening of the hand with difficult extension of fingers following tight grip
    Grip myotonia
  118. Presents in infancy and inherited as an autosomal-dominant condition; there is an abnormality of muscle chloride channel
    Myotonia Congenita (Thomsen's Disease, Infantile Herculinism)
  119. Reduced myotonia after repeated activity seen in children with myotonia congenita
    Warm up phenomenon
  120. Worsening of myotonia with exercise seen in children with paramyotonia congenita
    Paradoxical Myotonia
  121. Autosomal recessive disorder with myotonia, dwarfism, diffuse bone disease, narrow palpebral fissures, blepharospasm, micrognathia, and flattened facies
    Schwartz-Jampel Syndrome
  122. Most common glycogen storage disease
    McArdle's Disease (glycogenolysis type 5)
  123. Mitochondrial disorder which presents with progressive external opthalmoplegia, retinitis pigmentosa, and complete heart block
    Kearns-Sayre Syndrome
  124. Occurs in about 10-15% of infants born to myasthenic mothers and is due to transplacental transfer of circulating acetylcholine receptor (AchR) antibodies from the myasthenic mother to the fetus; self-limiting with symptom resolution generally occurring within two to three weeks
    Transient Neonatal Myasthenia
  125. Usually present between 10 days to 6 months, with an acute onset of hypotonia, dysphagia, constipation, weak cry, and respiratory insufficiency; diagnosed by electrodiagnostic studies or by measuring Clostridium botulinum toxin in a rectal aspirate containing stool
    Infantile Botulism
  126. Hypertrophic demyelinating peripheral neuropathy with a more severe phenotype presenting in infancy or early childhood
    Dejerine-Sottas Disease (CMT 3)
  127. Group of inherited disorders characterized by weakness and muscle wasting, secondary to degeneration of both anterior horn cells of the spinal cord and brainstem nuclei without pyramidal tract involvement
    Spinal Muscular Atrophy
  128. SMA type which present with severe hypotonia, weak suck, weak cry, proximal weakness, absent reflexes, and respiratory failure
    SMA type I (Werdnig-Hoffman)
  129. Slowly progressive focal motor neuron disease affecting the upper extremities and and is common in Asian populations
    Juvenile Segmental SMA (Benign Focal Amyotrophy, Hirayama Disease)
  130. Progressive bulbar paralysis of childhood which presents with ptosis, facial weakness, dysphagia, normal hearing, and respiratory stridor
    Fazio-Londe Disease
  131. Spinocerebellar degeneration with onset of symptoms before 20 years old
    Friedreich's Ataxia
  132. Inheritance pattern of Friedreich's Ataxia
    Autosomal recessive
  133. Gene locus of Friedreich's Ataxia
    9q13-21.1
  134. Protein implicated in Friedreich's Ataxia
    Frataxin
  135. Manifestations of Friedreich's Ataxia
    • 1. Ataxic gait
    • 2. Tremor
    • 3. Dysmetria
    • 4. Dysarthria
    • 5. Decreased proprioception and/or vibration sense
    • 6. Muscle weakness
    • 7. Absent deep tendon reflexes
  136. Preconception risk factors associated with cerebral palsy
    • 1. Maternal seizures
    • 2. Intellectual disability
    • 3. Thyroid disease (hyper or hypo)
    • 4. History of stillbirth or neonatal death
    • 5. Maternal age >40 years
    • 6. Low socioeconomic status
  137. Antenatal risk factors associated with cerebral palsy
    • 1. Birth defects
    • 2. Small for gestational age
    • 3. Low birth weight
    • 4. Placental abnormalities
    • 5. Maternal disease during pregnancy
    • 6. Abnormalities in fluid volume
    • 7. Maternal bleeding in second or third trimesters
    • 8. Hypertension
    • 9. Preeclampsia
    • 10. Chorioamnionitis
  138. Intrapartum risk factors associated with cerebral palsy
    • 1. Birth hypoxia
    • 2. Meconium staining
    • 3. Meconium aspiration
    • 4. Abnormal duration of labor
    • 5. Fetal presentation
  139. Neonatal risk factors associated with cerebral palsy
    • 1. Seizures
    • 2. Respiratory distress
    • 3. Hypoglycemia
    • 4. Infections
    • 5. Jaundice
  140. Postnatal risk factors associated with cerebral palsy
    • 1. Stroke
    • 2. Abusive head trauma
    • 3. Bacterial meningitis
    • 4. Motor vehicle crashes
  141. Intraventricular hemorrhage grading: with normal ventricular size
    Grade II
  142. Intraventricular hemorrhage grading: with ventricular dilation
    Grade III
  143. Intraventricular hemorrhage grading: with parenchymal hemorrhage
    Grade IV
  144. Positive or Negative motor sign in cerebral palsy: rigidity
    Positive
  145. Positive or Negative motor sign in cerebral palsy: weakness
    Negative
  146. Positive or Negative motor sign in cerebral palsy: dystonia
    Positive
  147. Positive or Negative motor sign in cerebral palsy: ataxia
    Negative
  148. Positive or Negative motor sign in cerebral palsy: spasticity
    Positive
  149. Positive or Negative motor sign in cerebral palsy: hyperkinesia (e.g. dystonia, chorea, athetosis, myoclonus, tremors, tics, and stereotypies)
    Positive
  150. Positive or Negative motor sign in cerebral palsy: reduced selective motor control
    Negative
  151. Positive or Negative motor sign in cerebral palsy: apraxia
    Negative
  152. Gross Motor Function Classification System for cerebral palsy: walks without limitations
    Level I
  153. Gross Motor Function Classification System for cerebral palsy: walks with limitations
    Level II
  154. Gross Motor Function Classification System for cerebral palsy: walks using a hand-held mobility device
    Level III
  155. Gross Motor Function Classification System for cerebral palsy: self-mobility with limitations; may use powered mobility
    Level IV
  156. Gross Motor Function Classification System for cerebral palsy: transported in a manual wheelchair
    Level V
  157. Manual Ability Classification System for cerebral palsy: handles objects easily and successfully
    Level I
  158. Manual Ability Classification System for cerebral palsy: handles most objects but with somewhat reduced quality and/or speed of achievement
    Level II
  159. Manual Ability Classification System for cerebral palsy: handles objects with difficulty; needs help to prepare and/or modify activities
    Level III
  160. Manual Ability Classification System for cerebral palsy: handles a limited selection of easily managed objects in adapted situations
    Level IV
  161. Manual Ability Classification System for cerebral palsy: does not handle objects with severely limited ability to perform even simple actions
    Level V
  162. Communication Function Classification System for cerebral palsy: sends and receives information with familiar and unfamiliar partners effectively and efficiently
    Level I
  163. Communication Function Classification System for cerebral palsy: sends and receives information with familiar and unfamiliar partners but may need extra time
    Level II
  164. Communication Function Classification System for cerebral palsy: sends and receives information with familiar partners effectively, but not with unfamiliar partners
    Level III
  165. Communication Function Classification System for cerebral palsy: inconsistently sends and/or receives information even with familiar partners
    Level IV
  166. Communication Function Classification System for cerebral palsy: seldom effectively sends and receives information even with familiar partners
    Level V
  167. Gait deviation seen in cerebral palsy which can be surgically managed with adductor tenotomy or myotomy with or without hamstring lengthening
    Scissoring gait
  168. Gait deviation seen in cerebral palsy caused by spasticity of the gastrocnemius muscles and can be surgically managed with gastrocnemius recession and in hemiplegics, Baker lengthening orĀ  Achilles tendon lengthening
    Equinus
  169. Decreased knee flexion range of motion throughout the gait cycle seen in cerebral palsy hemiplegia secondary to overactive rectus femoris
    Stiffed knee gait
  170. MC diplegic gait pattern in young children
    Jump gait
  171. MC diplegic gait pattern in older children
    Crouched gait
  172. Degenerate brain and absent skull vault and scalp
    Anencephaly
  173. Near-complete absence of neural tube closure, sometimes sparing forebrain
    Craniochischisis
  174. Neural arches of one or several vertebrae are incomplete in the lumbosacral region
    Spina bifida occulta
  175. Spinal cord longitudinally split
    Diastematomyelia
  176. Spinal cord longitudinally duplicated
    Diplomyelia
  177. MC culprit in shunt infection
    Staphylococcus epidermidis
  178. Constellation of stridor, central apnea, and aspiration seen in Chiari II malformation
    Central ventilatory dysfunction
  179. Neurologic level of spina bifida without lower limb muscle function
    Lower thoracic (T11-T12)
  180. Neurologic level of spina bifida with iliopsoas function
    High lumbar (L1-L2)
  181. Neurologic level of spina bifida which has strong knee extension but lacks hip abduction
    Midlumbar (L3-L4)
  182. Neurologic level of spina bifida which has strong knee flexion, strong ankle dorsiflexion and inversion, and great toe extension but lacks active hip extension and ankle plantarflexion
    L5
  183. Neurologic level of spina bifida which has active hip extension and ankle plantarflexion and eversion, but may lack foot intrinsic muscle function
    Sacral (S1, S2-S3)
Author
carminaorlino
ID
355335
Card Set
Pediatric Conditions
Description
Updated