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Pediatrics > Genetics/Endo/Neuro > Flashcards

Genetics/Endo/Neuro Flashcards

1
Q

Limb-Girdle Muscular Dystrophy Overview

A

X-linked recessive. Includes other myotubular myopathies. Onset at 5-15 years. Severe Cardiomyopathy.

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2
Q

Neurofibromatosis Presentation

A

Cafe-au-lait spots, Neurofibromas (pedunculated tumors along a nerve), axillary/groin freckling, 40% will have learning disability. Greater incidence of CNS tumors and HTN.

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3
Q

Trisomy 18 Prognosis

A

Only 5% will survive beyond a year. Adulthood is possible with extreme intervention. Severe intellectual disability.

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4
Q

Spinal Muscular Atrophy Syndrome Presentation

A

Presents in infancy. Developmental motor delay, muscle atrophy, hypotonia, failure to stand, drooling. Normal cognitive, social and language development. Death usually occurs from respiratory dysfunction.

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5
Q

Trisomy 13 Definition

A

Patau syndrome. Defect in the prechordal mesoderm. Midline abnormalities.

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6
Q

Klinefelter Syndrome Diagnosis

A

Low testosterone and elevated LH/FSH

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7
Q

Precocious Puberty Definition

A

Secondary sex characteristics in girls less than 8 and boys less than 9.

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8
Q

Pituitary Dwarfism Overview

A

Normal body proportions, normal intelligence. Diagnosised with GH stimulation test (hypoglycemia or arginine). Treated with recombinant GH.

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9
Q

Neurofibromatosis Type II Genetics

A

Central and incurable. Autosomal Dominant. Chromosome 22. Multiple intracranial/spinal tumors.

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10
Q

Crossed Extension Reflex

A

Stimulation of the foot causes the opposite leg to react. 0-6mo. Spinal cord.

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11
Q

Grasp reflex

A

0-6mo. Brainstem.

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12
Q

Trunk Incurvation Reflex

A

Stroke back and the spine curves to opposite direction. 0-6mo. Spinal cord.

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13
Q

Duchenne Muscular Dystrophy Presentation

A

Onset at 3yo. Slow motor development. Gower’s sign (uses hands to push up from the ground), hypertrophy of the calves. Cardiomyopathy in 50-80%.

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14
Q

Tonic Neck Reflex

A

Supine, will turn head and extend ipsilateral arm/leg. 0-6mo. Brainstem.

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15
Q

Parachute Reflex

A

Tilt causes extension of ipsilateral arm. 6mo-life. Brainstem.

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16
Q

Microcephaly definition

A

Less than 5th percentile in head circumference

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17
Q

Myoclonic Seizures

A

Spasm of a muscle or group of muscles

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18
Q

Turner Syndrome Genetics

A

45, X. Have higher risk for X-linked recessive genes.

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19
Q

Febrile seizures overview

A

Simple seizures. 3mo-5yo. Usually last less than 15 mins.

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20
Q

Absence Seizures Overview

A

Females. 4-6yo. “staring into space” Not responsive, no postictal phase, amnesia.

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21
Q

Meningomyelocele

A

Most severe form of spina bifida. Spinal cord/nerve roots are exposed on the back in a sac. CSF leakage. Leg paralysis and incontinence.

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22
Q

Guillain-Barre Syndrome Presentation

A

Ascending loss of motor strength, loss of DTRs, ANS dysfunction.

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23
Q

Ataxia

A

Cerebellar dysfunction. Unable to make coordinated voluntary movements

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24
Q

Turner Syndrome Treatment

A

Estrogen with cyclic progesterone to stimulate puberty. Monitor closely for gonadal malignancy. Infertile (pregnancy via egg donation with IVF).

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25
Q

Macrocephaly defintion

A

Greater than 95th percentile in head circumference

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26
Q

Arnold-chiari Malformation

A

Associated with meningomyeloceles. Cerebellum herniation through the foramen magnum. Occipital HA that radiate upward and worsens with valsalva. visual and balance problems.

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27
Q

Infantile Spasms Treatment

A

ACTH, Vigabatrin, ketogenic diet

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28
Q

Steinburg sign

A

Grasped fist with thumb extending past the palm

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29
Q

Spasticity

A

Muscle stiffness associated with increased reflexes

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30
Q

Status Eplitcus Defintion

A

Prolonged seizure greater than 20-30 mins. Often causes irreversible brain damage.

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31
Q

Abnormal short stature

A

less than two deviation from normal or less than the third percentile. Or height velocity less than 25th percentile.

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32
Q

Turner Syndrome Presentation

A

Short stature, webbed neck, shield chest. Infants will have swelling in the dorsum of their hands/feet, madelung deformity. Bicuspid aortic valve (aortic stenosis), HTN. Underdeveloped gonads, horseshoe kidney.

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33
Q

Fragile X Syndrome Genetics

A

Most common inherited intellectual disability. Suspect in any male with intellectual disability. X-linked recessive often due to new mutations. CGG repeated in the FMR1 gene.

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34
Q

Trisomy 13 Presentation

A

Midline cleft lip/palat, hypotonia, clinodactylyl, rocker bottom feet, omphalocele.

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35
Q

Duchenne Muscular Dystrophy Genetics

A

X-linked recessive.

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36
Q

Cerebral Palsy Treatment

A

Anti-spasmodics: dantrolene, benzo, baclofen, botulim toxin.

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37
Q

Marfan Syndrome Complications

A

Aortic dissection, mitral valve prolapse, pneumothorax, Lens sublaxation/dislocation.

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38
Q

Trisomy 18 Presentation

A

Microcephaly, hypertonia/spasticity, rocker bottom feet, horseshoe kidney, omphalocele, CHD.

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39
Q

Fontanelle closure

A

Posterior: 2-3 months Sphenoidal: 6 mo Anterior: 1-3 yo

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40
Q

Marfan Syndrome Presentation

A

Tall/Thin, arachnodactyly, pectus deformity, Steinburg sign and walker-murdoch sign.

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41
Q

Emery-Dreifuss Muscular Dystrophy Overiew

A

Scapulohumeral. Myopathies affecting hip/shoulder muscles. Presents in mid-late childhood.

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42
Q

Clonic Seizures

A

Alternating contraction and relaxation

43
Q

Abnormal Tall Stature

A

Greater than the 97th percentile with Z score greater than 2 or a growth curve that has deviated by two or more height percentile curves.

44
Q

Landau Reflex

A

Extension of neck causes extension of limbs. 6mo-2yo. Brainstem.

45
Q

Trisomy 21 Definition

A

Down Syndrome. Most common chromosomal abnormality. Developmental/intellectual delay about twice the average age. Associated with advanced maternal age.

46
Q

Tics

A

Repetitive complex involuntary movement or sound

47
Q

Osteogenesis Imperfecta Presentation

A

Atypical fractures, blue sclera, scoliosis, basilar skull deformity, hearing loss, opalescent teeth.

48
Q

Prader-Willi Syndrome Genetics

A

Usually occur spontaneously. Chromosome 15. leads to absence of paternal gene expression, usually due to paternal deletion. Can also be due to maternal disomy (higher IQ, less distinct).

49
Q

Digeorge Syndrome Triad

A

Cardiac abnormalities, hypoplastic thymus, hypocalcemia

50
Q

Guillain-Barre Syndrome Definition

A

Acute idiopathic polyneuritis. Post-infectious usually due to campylobacter jejuni.

51
Q

Pituitary Giantism Overview

A

GH excess caused by hypothalamic GHRH. Rapid gowth, coarse facial features, frontal bossing. GH suppression test is the gold standard.

52
Q

Tremors

A

Rythmic involuntary shaking

53
Q

Trisomy 21 Screening

A

Triple test: maternal serum markers to determine risk. Ultrasound for gestational age. Fetal karyotype with CVS or amniocentesis and then FISH.

54
Q

Fragile X Syndrome Treatment

A

Annual echos. PT/OT. GERD meds and feeding therapy.

55
Q

Fragile X Syndrome Presentation

A

Developmental/intellectual delay, Autistic behavior, seizures, macrocephaly, Large ears with a long narrow face, pes planus, hypotonia, strabismus with blue iris, mitral valve prolapse, macro-orchidism.

56
Q

Diabetes Diagnositic Criteria

A

A1c greater than 6.5%, Fasting BGL greater than 126, 2 hour glucose tolerance greater than 220, random FSBS greater than 200.

57
Q

Status Eplitcus Treatmetn

A

ABCs. Benzodiazepine (valium/ativan), pheytoin/fosphenytoin, phenobarbital, valproate.

58
Q

Type I Diabetes Treatment goals

A

A1C less than 7.5%, BGL before meals 90-130, bedtime BGL 90-150.

59
Q

Chorea

A

Continuous involuntary random movements. Dancing/writhing.

60
Q

Trisomy 13 prognosis

A

less than 5% live to 6 months

61
Q

Neurofibromatosis type I Genetics

A

Most common. Peripheral. Autosomal Dominant. Chromosome 17.

62
Q

Duchenne Muscular Dystrophy Treatment

A

Glucocorticoids for symptoms. Wheelchari bound by 10yo and usually death by 18-20yo.

63
Q

Klinefelter Syndrome Genetics

A

47 XXY effects males

64
Q

Becker Muscular Dystrophy Overview

A

Similar to Duchenne but progresses slower.

65
Q

Dystonia

A

Abnormal muscle contractions leading to twisting, jerking and stiffening.

66
Q

Infantile Spasms Presentation

A

Seizure, bending forward with stiffening of arms and legs. EEG shows hypsarrhythmia (chaotic brain waves). Occur upon wakening or just before sleep.

67
Q

Moro Reflex

A

Sudden head extension causes extension of arms. Brainstem. 0-6mo.

68
Q

Marfan Syndrome Genetics

A

Autosomal dominant mutation in FBN1

69
Q

Placing Reflex

A

Puts foot on table when comes in contact with the table. 0-6mo. Spinal cord.

70
Q

Digeorge Syndrome Treatment

A

Cardiac consult, psychiatric counseling, caution with live vaccines.

71
Q

Trisomy 21 Screening Indications

A

Advance maternal age, concerning ultrasound, parental robertsonian translocation, history of trisomy pregnancy

72
Q

Digeorge Syndrome Diagnosis

A

Decreased CD3 and T cell with clinical finding. Confirmation with chromosomal deletion (only 50%).

73
Q

Klinefelter Syndrome Presentation

A

Post-pubertal, micro-orchidism and gynecomastia. Mild language delay and learning disability.

74
Q

Digeorge Syndrome Presentation

A

Immunodeficiency, heart failure, low ears, wide set eyes, palatal defects, GU abnormalities, scoliosis, developmental/intellectual delay.

75
Q

Most common pediatric brain tumor

A

meduloblastomas

76
Q

Spinal Muscular Atrophy Syndrome Genetics

A

Autosomal recessive mutation of chromosome 5. Causes degeneration of anterior horn cells. Similar to ALS in adults.

77
Q

Dandy-Walker Syndrome Overview

A

Enlargement of the fourth ventricle with absence of the cerebellar vermis. Slow motor development and hydrocephalus.

78
Q

Atonic Seizures

A

Sustained relaxation

79
Q

Rooting Reflex

A

0-6mo. Brainstem.

80
Q

Cerebral Palsy Definition

A

Motor impairment resulting from brain damage. Permanent and not progressive. Most common spastic. Have normal or above normal intellect.

81
Q

Infantile Spasms Definition

A

West syndrome. Onset 4-8mo. Spasms, developmental regression.

82
Q

Duchenne Muscular Dystrophy Diagnosis

A

Muscle biopsy will show muscle fiber degeneration with regeneration of connective tissue. Absence of dystrophin. Elevated CPK.

83
Q

Hyrdrocephalus Treatment

A

Diuretics and VP-shunt placement

84
Q

Infantile Spasms Prognosis

A

intellectual prognosis is poor. More than half will develop other types of seizures

85
Q

Myasthenia Gravis Overview

A

Rare autoimmune destruction of Ach nicotinic receptors. Can have thymus involvement. Ptosis, facial weakness that worsens throughout the day.

86
Q

Screenng for type II diabetes

A

BMI greater than 85th percentile and two or more risk factors. Screen everyone at 10yo Q 3 years.

87
Q

Osteogenesis Imperfecta Genetics

A

Autosomal dominant mutation in type I collagen

88
Q

Osteogenesis Imperfecta types

A

I is mild. II is most severe.

89
Q

Precocious Puberty Treatment

A

Central: GnRH agonsits. Peripheral: block source.

90
Q

Trisomy 18 Definition

A

Edward’s syndrome. More common in females.

91
Q

Tonic Seizures

A

Sustained contraction

92
Q

Trisomy 21 Presentation

A

Epicanthic folds, low set ears, protruding tongue, cataracts, hearing loss, CHD, duodenal atresia, hirschsprung disease, hypotonis, atlantoaxial instability, simian crease, short stature.

93
Q

Marfan Syndrome Management

A

Annual echo/EKG, eye exam and radiographs. Beta-blockers.

94
Q

Klinefelter Syndrome Treatment

A

Testosterone replacement, infertility (50% can be fathers)

95
Q

Prader-Willi Syndrome Presentation

A

Primary GH deficiency. Short, small hands/feet, depigmentation, hypogonadism, food seeking behavior, intellectual/developmental delay, obesity. Infants present with hypotonia and FTT.

96
Q

Walker-murdoch sign

A

Grip wrist with oppostie hand and thumb and pinky can touch.

97
Q

Digeorge Syndrome Genetics

A

Autosomal dominant chromosome 22 defect that often occurs randomly.

98
Q

Prader-Willi Syndrome Treatment

A

GH/Testosterone/Estrogen replacement. Diet and exercise. Group home.

99
Q

Osteogenesis Imperfecta Treatment

A

Pamidronate IV every 3 months (4 hours for 3 days). Low impact exercise.

100
Q

Insulin Dosing

A

Start with 0.5-1.0 units/Kg. Then coverage: 1 unit per 1-6 yo: 20 carbs Prepubertal: 10-12 carbs Pubertal: 8-10 carbs

101
Q

Myoclonus

A

Rapid and brief shock-like jerks

102
Q

Meningocele

A

Rare form of spina bifida. Only the meninges are exposed and the spinal cord is intact and functions normally.

103
Q

Osteogenesis Imperfecta Diagnosis

A

Fractures at multiple stages (FH is key!), Wormian bones, “codfish” vertevral fractures.

Pediatrics (8 decks)

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