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Genetics/Endo/Neuro Flashcards

(103 cards)

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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
Macrocephaly defintion
Greater than 95th percentile in head circumference
26
Arnold-chiari Malformation
Associated with meningomyeloceles. Cerebellum herniation through the foramen magnum. Occipital HA that radiate upward and worsens with valsalva. visual and balance problems.
27
Infantile Spasms Treatment
ACTH, Vigabatrin, ketogenic diet
28
Steinburg sign
Grasped fist with thumb extending past the palm
29
Spasticity
Muscle stiffness associated with increased reflexes
30
Status Eplitcus Defintion
Prolonged seizure greater than 20-30 mins. Often causes irreversible brain damage.
31
Abnormal short stature
less than two deviation from normal or less than the third percentile. Or height velocity less than 25th percentile.
32
Turner Syndrome Presentation
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.
33
Fragile X Syndrome Genetics
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.
34
Trisomy 13 Presentation
Midline cleft lip/palat, hypotonia, clinodactylyl, rocker bottom feet, omphalocele.
35
Duchenne Muscular Dystrophy Genetics
X-linked recessive.
36
Cerebral Palsy Treatment
Anti-spasmodics: dantrolene, benzo, baclofen, botulim toxin.
37
Marfan Syndrome Complications
Aortic dissection, mitral valve prolapse, pneumothorax, Lens sublaxation/dislocation.
38
Trisomy 18 Presentation
Microcephaly, hypertonia/spasticity, rocker bottom feet, horseshoe kidney, omphalocele, CHD.
39
Fontanelle closure
Posterior: 2-3 months Sphenoidal: 6 mo Anterior: 1-3 yo
40
Marfan Syndrome Presentation
Tall/Thin, arachnodactyly, pectus deformity, Steinburg sign and walker-murdoch sign.
41
Emery-Dreifuss Muscular Dystrophy Overiew
Scapulohumeral. Myopathies affecting hip/shoulder muscles. Presents in mid-late childhood.
42
Clonic Seizures
Alternating contraction and relaxation
43
Abnormal Tall Stature
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
Landau Reflex
Extension of neck causes extension of limbs. 6mo-2yo. Brainstem.
45
Trisomy 21 Definition
Down Syndrome. Most common chromosomal abnormality. Developmental/intellectual delay about twice the average age. Associated with advanced maternal age.
46
Tics
Repetitive complex involuntary movement or sound
47
Osteogenesis Imperfecta Presentation
Atypical fractures, blue sclera, scoliosis, basilar skull deformity, hearing loss, opalescent teeth.
48
Prader-Willi Syndrome Genetics
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
Digeorge Syndrome Triad
Cardiac abnormalities, hypoplastic thymus, hypocalcemia
50
Guillain-Barre Syndrome Definition
Acute idiopathic polyneuritis. Post-infectious usually due to campylobacter jejuni.
51
Pituitary Giantism Overview
GH excess caused by hypothalamic GHRH. Rapid gowth, coarse facial features, frontal bossing. GH suppression test is the gold standard.
52
Tremors
Rythmic involuntary shaking
53
Trisomy 21 Screening
Triple test: maternal serum markers to determine risk. Ultrasound for gestational age. Fetal karyotype with CVS or amniocentesis and then FISH.
54
Fragile X Syndrome Treatment
Annual echos. PT/OT. GERD meds and feeding therapy.
55
Fragile X Syndrome Presentation
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
Diabetes Diagnositic Criteria
A1c greater than 6.5%, Fasting BGL greater than 126, 2 hour glucose tolerance greater than 220, random FSBS greater than 200.
57
Status Eplitcus Treatmetn
ABCs. Benzodiazepine (valium/ativan), pheytoin/fosphenytoin, phenobarbital, valproate.
58
Type I Diabetes Treatment goals
A1C less than 7.5%, BGL before meals 90-130, bedtime BGL 90-150.
59
Chorea
Continuous involuntary random movements. Dancing/writhing.
60
Trisomy 13 prognosis
less than 5% live to 6 months
61
Neurofibromatosis type I Genetics
Most common. Peripheral. Autosomal Dominant. Chromosome 17.
62
Duchenne Muscular Dystrophy Treatment
Glucocorticoids for symptoms. Wheelchari bound by 10yo and usually death by 18-20yo.
63
Klinefelter Syndrome Genetics
47 XXY effects males
64
Becker Muscular Dystrophy Overview
Similar to Duchenne but progresses slower.
65
Dystonia
Abnormal muscle contractions leading to twisting, jerking and stiffening.
66
Infantile Spasms Presentation
Seizure, bending forward with stiffening of arms and legs. EEG shows hypsarrhythmia (chaotic brain waves). Occur upon wakening or just before sleep.
67
Moro Reflex
Sudden head extension causes extension of arms. Brainstem. 0-6mo.
68
Marfan Syndrome Genetics
Autosomal dominant mutation in FBN1
69
Placing Reflex
Puts foot on table when comes in contact with the table. 0-6mo. Spinal cord.
70
Digeorge Syndrome Treatment
Cardiac consult, psychiatric counseling, caution with live vaccines.
71
Trisomy 21 Screening Indications
Advance maternal age, concerning ultrasound, parental robertsonian translocation, history of trisomy pregnancy
72
Digeorge Syndrome Diagnosis
Decreased CD3 and T cell with clinical finding. Confirmation with chromosomal deletion (only 50%).
73
Klinefelter Syndrome Presentation
Post-pubertal, micro-orchidism and gynecomastia. Mild language delay and learning disability.
74
Digeorge Syndrome Presentation
Immunodeficiency, heart failure, low ears, wide set eyes, palatal defects, GU abnormalities, scoliosis, developmental/intellectual delay.
75
Most common pediatric brain tumor
meduloblastomas
76
Spinal Muscular Atrophy Syndrome Genetics
Autosomal recessive mutation of chromosome 5. Causes degeneration of anterior horn cells. Similar to ALS in adults.
77
Dandy-Walker Syndrome Overview
Enlargement of the fourth ventricle with absence of the cerebellar vermis. Slow motor development and hydrocephalus.
78
Atonic Seizures
Sustained relaxation
79
Rooting Reflex
0-6mo. Brainstem.
80
Cerebral Palsy Definition
Motor impairment resulting from brain damage. Permanent and not progressive. Most common spastic. Have normal or above normal intellect.
81
Infantile Spasms Definition
West syndrome. Onset 4-8mo. Spasms, developmental regression.
82
Duchenne Muscular Dystrophy Diagnosis
Muscle biopsy will show muscle fiber degeneration with regeneration of connective tissue. Absence of dystrophin. Elevated CPK.
83
Hyrdrocephalus Treatment
Diuretics and VP-shunt placement
84
Infantile Spasms Prognosis
intellectual prognosis is poor. More than half will develop other types of seizures
85
Myasthenia Gravis Overview
Rare autoimmune destruction of Ach nicotinic receptors. Can have thymus involvement. Ptosis, facial weakness that worsens throughout the day.
86
Screenng for type II diabetes
BMI greater than 85th percentile and two or more risk factors. Screen everyone at 10yo Q 3 years.
87
Osteogenesis Imperfecta Genetics
Autosomal dominant mutation in type I collagen
88
Osteogenesis Imperfecta types
I is mild. II is most severe.
89
Precocious Puberty Treatment
Central: GnRH agonsits. Peripheral: block source.
90
Trisomy 18 Definition
Edward's syndrome. More common in females.
91
Tonic Seizures
Sustained contraction
92
Trisomy 21 Presentation
Epicanthic folds, low set ears, protruding tongue, cataracts, hearing loss, CHD, duodenal atresia, hirschsprung disease, hypotonis, atlantoaxial instability, simian crease, short stature.
93
Marfan Syndrome Management
Annual echo/EKG, eye exam and radiographs. Beta-blockers.
94
Klinefelter Syndrome Treatment
Testosterone replacement, infertility (50% can be fathers)
95
Prader-Willi Syndrome Presentation
Primary GH deficiency. Short, small hands/feet, depigmentation, hypogonadism, food seeking behavior, intellectual/developmental delay, obesity. Infants present with hypotonia and FTT.
96
Walker-murdoch sign
Grip wrist with oppostie hand and thumb and pinky can touch.
97
Digeorge Syndrome Genetics
Autosomal dominant chromosome 22 defect that often occurs randomly.
98
Prader-Willi Syndrome Treatment
GH/Testosterone/Estrogen replacement. Diet and exercise. Group home.
99
Osteogenesis Imperfecta Treatment
Pamidronate IV every 3 months (4 hours for 3 days). Low impact exercise.
100
Insulin Dosing
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
Myoclonus
Rapid and brief shock-like jerks
102
Meningocele
Rare form of spina bifida. Only the meninges are exposed and the spinal cord is intact and functions normally.
103
Osteogenesis Imperfecta Diagnosis
Fractures at multiple stages (FH is key!), Wormian bones, "codfish" vertevral fractures.

Pediatrics (8 decks)

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