Pediatric Misc. Flashcards
Both Prader-Willi and Angelman syndrome are due to a mutation or deletion of genes on chromosome […].
Both Prader-Willi and Angelman syndrome are due to a mutation or deletion of genes on chromosome 15.
Duchenne muscular dystrophy classically presents with the […] sign, in which a patient uses their upper extremities to help stand up.
Duchenne muscular dystrophy classically presents with the Gower sign, in which a patient uses their upper extremities to help stand up.
may also be seen in other muscular dystrophies and inflammatory myopathies (e.g. polymyositis)
Duchenne muscular dystrophy classically presents with […] of calf muscles.
Duchenne muscular dystrophy classically presents with pseudohypertrophy of calf muscles.
due to fibrofatty replacement of muscle
Duchenne muscular dystrophy is associated with increased serum creatine kinase and […].
Duchenne muscular dystrophy is associated with increased serum creatine kinase and aldolase.
useful for screening for muscular dystrophies, but not specific for DMD; typically elevated before weakness begins
Edwards syndrome is associated with intellectual disability, rocker-bottom feet, low-set ears, and a small […].
Edwards syndrome is associated with intellectual disability, rocker-bottom feet, low-set ears, and a small jaw (micrognathia).
also may present with clenched hands with overlapping fingers, prominent occiput, and congenital heart disease
In Angelman syndrome, the […] gene is imprinted and the […] gene is mutated/deleted.
In Angelman syndrome, the paternal gene is imprinted and the maternal gene is mutated/deleted.
In Prader-Willi syndrome, the […] gene is imprinted and the […] gene is mutated/deleted.
In Prader-Willi syndrome, the maternal gene is imprinted and the paternal gene is mutated/deleted.
Prominent J waves on ECG are typically indicative of […].
Prominent J waves on ECG are typically indicative of hypothermia.
also known as an Osborn wave
The symptoms of myotonic dystrophy may be remembered with the mnemonic “CTG”:
C: […]
T: Toupee (early balding in men)
G: Gonadal atrophy
The symptoms of myotonic dystrophy may be remembered with the mnemonic “CTG”:
C: Cataracts
T: Toupee (early balding in men)
G: Gonadal atrophy
other symptoms include myotonia, muscle wasting, and arryhthmias
The symptoms of myotonic dystrophy may be remembered with the mnemonic “CTG”:
C: Cataracts
T: […]
G: Gonadal atrophy
The symptoms of myotonic dystrophy may be remembered with the mnemonic “CTG”:
C: Cataracts
T: Toupee (early balding in men)
G: Gonadal atrophy
other symptoms include myotonia, muscle wasting, and arryhthmias
The symptoms of myotonic dystrophy may be remembered with the mnemonic “CTG”:
C: Cataracts
T: Toupee (early balding in men)
G: […]
The symptoms of myotonic dystrophy may be remembered with the mnemonic “CTG”:
C: Cataracts
T: Toupee (early balding in men)
G: Gonadal atrophy
other symptoms include myotonia, muscle wasting, and arryhthmias
The symptoms of Lesch-Nyhan syndrome may be remembered with the mnemonic “HGPRT”:
H: […]
G: Gout
P: Pissed off (aggression, self-mutilation)
R: Retardation (intellectual disability)
T: dysTonia
The symptoms of Lesch-Nyhan syndrome may be remembered with the mnemonic “HGPRT”:
H: Hyperuricemia
G: Gout
P: Pissed off (aggression, self-mutilation)
R: Retardation (intellectual disability)
T: dysTonia
The symptoms of Lesch-Nyhan syndrome may be remembered with the mnemonic “HGPRT”:
H: Hyperuricemia
G: […]
P: Pissed off (aggression, self-mutilation)
R: Retardation (intellectual disability)
T: dysTonia
The symptoms of Lesch-Nyhan syndrome may be remembered with the mnemonic “HGPRT”:
H: Hyperuricemia
G: Gout
P: Pissed off (aggression, self-mutilation)
R: Retardation (intellectual disability)
T: dysTonia
The symptoms of Lesch-Nyhan syndrome may be remembered with the mnemonic “HGPRT”:
H: Hyperuricemia
G: Gout
P: […]
R: Retardation (intellectual disability)
T: dysTonia
The symptoms of Lesch-Nyhan syndrome may be remembered with the mnemonic “HGPRT”:
H: Hyperuricemia
G: Gout
P: Pissed off (aggression, self-mutilation)
R: Retardation (intellectual disability)
T: dysTonia
The symptoms of Lesch-Nyhan syndrome may be remembered with the mnemonic “HGPRT”:
H: Hyperuricemia
G: Gout
P: Pissed off (aggression, self-mutilation)
R: […]
T: dysTonia
The symptoms of Lesch-Nyhan syndrome may be remembered with the mnemonic “HGPRT”:
H: Hyperuricemia
G: Gout
P: Pissed off (aggression, self-mutilation)
R: Retardation (intellectual disability)
T: dysTonia
The symptoms of Lesch-Nyhan syndrome may be remembered with the mnemonic “HGPRT”:
H: Hyperuricemia
G: Gout
P: Pissed off (aggression, self-mutilation)
R: Retardation (intellectual disability)
T: […]
The symptoms of Lesch-Nyhan syndrome may be remembered with the mnemonic “HGPRT”:
H: Hyperuricemia
G: Gout
P: Pissed off (aggression, self-mutilation)
R: Retardation (intellectual disability)
T: dysTonia
The symptoms of […] may be remembered with the mnemonic “HGPRT”:
H: Hyperuricemia
G: Gout
P: Pissed off (aggression, self-mutilation)
R: Retardation (intellectual disability)
T: dysTonia
The symptoms of Lesch-Nyhan syndrome may be remembered with the mnemonic “HGPRT”:
H: Hyperuricemia
G: Gout
P: Pissed off (aggression, self-mutilation)
R: Retardation (intellectual disability)
T: dysTonia
What chromosomal abnormality is associated with intellectual disability, prominent epicanthal folds, and a single palmar crease?
Trisomy 21 (Down syndrome)
other features include flat facies, upslanting palpebral fissures, a gap between the first two toes, and Brushfield spots (whitish-gray spots on the periphery of the iris)
What chromosomal abnormality is associated with intellectual disability, rocker-bottom feet, cleft lip/palate, and small eyes?
Trisomy 13 (Patau syndrome)
other features include midline defects (e.g. holoprosencephaly, omphalocele), polydactyly, congenital heart disease, and cutis aplasia
What chromosomal abnormality presents with clenched hands with overlapping fingers?
Trisomy 18 (Edwards syndrome)
other important features are rocker-bottom feet, low-set ears, and micrognathia
What gene is defective in X-linked muscular dystrophy (e.g. Duchenne, Becker)?
Dystrophin (DMD) gene
What genetic pathology is associated with “elfin” facies, intellectual disability, and extreme friendliness with strangers?
Williams syndrome
due to microdeletion of chromosome 7q; also may have cardiovascular problems and hypercalcemia (due to increased sensitivity to vitamin D)
What genetic pathology is associated with microcephaly, intellectual disability, and a high-pitched cry?
Cri-du-chat syndrome
due to microdeletion of chromosome 5p; also may have a protruding metopic suture, epicanthal folds and cardiac abnormalities (VSD)
What genetic pathology is characterized by inappropriate laughter, seizures, ataxia, and severe intellectual disability?
Angelman syndrome (“happy puppet syndrome”)
What genetic pathology is characterized by insatiable appetite (hyperphagia), obesity, intellectual disability, and hypogonadism?
Prader-Willi syndrome
also may result in hypotonia
What is a common cause of death in Duchenne muscular dystrophy?
Dilated cardiomyopathy
death usually results from cardiac or respiratory failure
What is the gold standard for diagnosis of Duchenne muscular dystrophy?
Genetic studies
reveals a deletion of the dystrophin gene on the Xp21 chromosome
What is the likely diagnosis in a child that experiences sudden transient episodes of loss of consciousness with paleness prior to the attack and flushing after? The child is fully alert upon awakening.
Adams-Stokes syndrome
due to cardiac dysrhythmia; ECG may show asystole, AV block, or ventricular fibrillation during the attacks
What is the likely diagnosis in a patient with scoliosis, long fingers and toes, and upwards lens dislocation?
Marfan syndrome
What is the mode of inheritance of Duchenne and Becker muscular dystrophy?
X-linked recessive
hence referred to as “X-linked muscular dystrophy”
What is the mode of inheritance of myotonic dystrophy?
Autosomal dominant
What is the most common cause of death in Marfan syndrome patients?
Aortic dissection
secondary to aortic root dilation and cystic medial degeneration of the aorta
What MSK pathology is characterized by impaired relaxation after a single muscle contraction?
Myotonic dystrophy
What protein is defective in Marfan syndrome?
Fibrillin (scaffold for elastin)
due to mutations of the fibrillin-1 gene
X-linked muscular dystrophy is characterized by muscle wasting and replacement of skeletal muscle by […] tissue.
X-linked muscular dystrophy is characterized by muscle wasting and replacement of skeletal muscle by adipose tissue.
e.g. Duchenne and Becker muscular dystrophy