Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Pediatrics > Pediatric Misc. > Flashcards

Pediatric Misc. Flashcards

1
Q

Both Prader-Willi and Angelman syndrome are due to a mutation or deletion of genes on chromosome […].

A

Both Prader-Willi and Angelman syndrome are due to a mutation or deletion of genes on chromosome 15.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Duchenne muscular dystrophy classically presents with the […] sign, in which a patient uses their upper extremities to help stand up.

A

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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Duchenne muscular dystrophy classically presents with […] of calf muscles.

A

Duchenne muscular dystrophy classically presents with pseudohypertrophy of calf muscles.

due to fibrofatty replacement of muscle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Duchenne muscular dystrophy is associated with increased serum creatine kinase and […].

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Edwards syndrome is associated with intellectual disability, rocker-bottom feet, low-set ears, and a small […].

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

In Angelman syndrome, the […] gene is imprinted and the […] gene is mutated/deleted.

A

In Angelman syndrome, the paternal gene is imprinted and the maternal gene is mutated/deleted.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

In Prader-Willi syndrome, the […] gene is imprinted and the […] gene is mutated/deleted.

A

In Prader-Willi syndrome, the maternal gene is imprinted and the paternal gene is mutated/deleted.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Prominent J waves on ECG are typically indicative of […].

A

Prominent J waves on ECG are typically indicative of hypothermia.

also known as an Osborn wave

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

The symptoms of myotonic dystrophy may be remembered with the mnemonic “CTG”:

C: […]

T: Toupee (early balding in men)

G: Gonadal atrophy

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

The symptoms of myotonic dystrophy may be remembered with the mnemonic “CTG”:

C: Cataracts

T: […]

G: Gonadal atrophy

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

The symptoms of myotonic dystrophy may be remembered with the mnemonic “CTG”:

C: Cataracts

T: Toupee (early balding in men)

G: […]

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

The symptoms of Lesch-Nyhan syndrome may be remembered with the mnemonic “HGPRT”:

H: Hyperuricemia

G: Gout

P: […]

R: Retardation (intellectual disability)

T: dysTonia

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

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: […]

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What chromosomal abnormality is associated with intellectual disability, prominent epicanthal folds, and a single palmar crease?

A

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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What chromosomal abnormality is associated with intellectual disability, rocker-bottom feet, cleft lip/palate, and small eyes?

A

Trisomy 13 (Patau syndrome)

other features include midline defects (e.g. holoprosencephaly, omphalocele), polydactyly, congenital heart disease, and cutis aplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What chromosomal abnormality presents with clenched hands with overlapping fingers?

A

Trisomy 18 (Edwards syndrome)

other important features are rocker-bottom feet, low-set ears, and micrognathia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What gene is defective in X-linked muscular dystrophy (e.g. Duchenne, Becker)?

A

Dystrophin (DMD) gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What genetic pathology is associated with “elfin” facies, intellectual disability, and extreme friendliness with strangers?

A

Williams syndrome

due to microdeletion of chromosome 7q; also may have cardiovascular problems and hypercalcemia (due to increased sensitivity to vitamin D)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What genetic pathology is associated with microcephaly, intellectual disability, and a high-pitched cry?

A

Cri-du-chat syndrome

due to microdeletion of chromosome 5p; also may have a protruding metopic suture, epicanthal folds and cardiac abnormalities (VSD)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What genetic pathology is characterized by inappropriate laughter, seizures, ataxia, and severe intellectual disability?

A

Angelman syndrome (“happy puppet syndrome”)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
What genetic pathology is characterized by insatiable appetite (hyperphagia), obesity, intellectual disability, and hypogonadism?
Prader-Willi syndrome also may result in hypotonia
26
What is a common cause of death in Duchenne muscular dystrophy?
Dilated cardiomyopathy death usually results from cardiac or respiratory failure
27
What is the gold standard for diagnosis of Duchenne muscular dystrophy?
Genetic studies reveals a deletion of the dystrophin gene on the Xp21 chromosome
28
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
29
What is the likely diagnosis in a patient with scoliosis, long fingers and toes, and upwards lens dislocation?
Marfan syndrome
30
What is the mode of inheritance of Duchenne and Becker muscular dystrophy?
X-linked recessive hence referred to as "X-linked muscular dystrophy"
31
What is the mode of inheritance of myotonic dystrophy?
Autosomal dominant
32
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
33
What MSK pathology is characterized by impaired relaxation after a single muscle contraction?
Myotonic dystrophy
34
What protein is defective in Marfan syndrome?
Fibrillin (scaffold for elastin) due to mutations of the fibrillin-1 gene
35
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
36
[...] muscular dystrophy is typically due to a non-frameshift deletion, resulting in a partially functional dystrophin protein.
**Becker** muscular dystrophy is typically due to a non-frameshift deletion, resulting in a partially functional dystrophin protein. therefore dystrophin is mutated but NOT deleted (vs. Duchenne)
37
[...] muscular dystrophy typically presents in adolescence or early adulthood.
**Becker** muscular dystrophy typically presents in adolescence or early adulthood. presents as a milder form of Duchenne muscular dystrophy
38
[...] muscular dystrophy is typically due to frameshift or non-sense mutations, resulting in a truncated or absent dystrophin protein.
**Duchenne** muscular dystrophy is typically due to frameshift or non-sense mutations, resulting in a truncated or absent dystrophin protein. "Duchenne = Deleted Dystrophin" (vs. Becker, where dystrophin is mutated)
39
[...] muscular dystrophy typically presents before 5 years of age.
**Duchenne** muscular dystrophy typically presents before 5 years of age.
40
[...] is due to CTG trinucleotide repeat expansion in the DMPK gene.
**Myotonic dystrophy (type 1)** is due to CTG trinucleotide repeat expansion in the DMPK gene.
41
Beckwith-Wiedemann syndrome typically manifests as a combination of Wilms tumor, macroglossia, muscular [...], hypo-glycemia, and/or organomegal.
Beckwith-Wiedemann syndrome typically manifests as a combination of Wilms tumor, macroglossia, muscular **hemihyperplasia,** hypo-glycemia, and/or organomegaly.
42
Beckwith-Wiedemann syndrome typically manifests as a combination of Wilms tumor, macroglossia, muscular hemihyperplasia, [...]-glycemia, and/or organomegaly.
Beckwith-Wiedemann syndrome typically manifests as a combination of Wilms tumor, macroglossia, muscular hemihyperplasia, **hypo**-glycemia, and/or organomegaly.
43
Chediak-Higashi syndrome is caused by a defect in the lysosomal trafficking regulator (LYST) gene, resulting in impaired [...] formation.
Chediak-Higashi syndrome is caused by a defect in the lysosomal trafficking regulator (LYST) gene, resulting in impaired **phagolysosome** formation. LYST defect results in impaired protein trafficking
44
Congenital diaphragmatic hernias occur due a defect in the [...].
Congenital diaphragmatic hernias occur due a defect in the **pleuroperitoneal** membrane.
45
46
Diaphragmatic hernias typically occur on the [...] side. (left or right)
Diaphragmatic hernias typically occur on the **left** side. (left or right) due to protection of right hemidaphragm by the liver
47
Early Fabry disease presents with a triad of peripheral neuropathy, [...], and hypohidrosis.
Early Fabry disease presents with a triad of peripheral neuropathy, **angiokeratomas**, and hypohidrosis.
48
In physiologic jaundice of the newborn, unconjugated bilirubin may deposit in the brain, especially in the [...] (kernicterus).
In physiologic jaundice of the newborn, unconjugated bilirubin may deposit in the brain, especially in the **basal ganglia** (kernicterus).
49
Kartagener syndrome is characterized by immotile cilia due to a [...] defect.
Kartagener syndrome is characterized by immotile cilia due to a **dynein arm** defect. also known as primary ciliary dyskinesia
50
Marfan syndrome typically presents with subluxation of the lenses [...] and [...]. (direction)
Marfan syndrome typically presents with subluxation of the lenses **upward** and **temporally**. (direction) versus homocystinuria which is usually downward and inward
51
Osteogenesis imperfecta may present with [...] due to abnormal ossicles.
Osteogenesis imperfecta may present with **hearing loss** due to abnormal ossicles. bones of the middle ear fracture easily
52
Osteoid osteoma typically arises in the cortex of the [...] of long bones (typically the proximal femur).
Osteoid osteoma typically arises in the cortex of the **diaphysis** of long bones (typically the proximal femur). important distinguishing feature from osteoblastoma, which typically arises in the vertebrae
53
Osteomalacia/rickets is characterized by [...] serum Ca2+ and PO43- .
Osteomalacia/rickets is characterized by **decreased** serum Ca2+ and PO43- . important distinguishing feature from osteoporosis
54
Osteomalacia/rickets is characterized by [...] serum PTH and alkaline phosphatase.
Osteomalacia/rickets is characterized by **increased** serum PTH and alkaline phosphatase. important distinguishing feature from osteoporosis
55
Risk factors of sudden infant death syndrome include sleeping on the [...] and exposure to [...].
Risk factors of sudden infant death syndrome include sleeping on the stomach and exposure to cigarette smoke. thus infants should sleep on their back and avoid second-hand smoke exposure
56
Some forms of osteogenesis imperfecta have tooth abnormalities, including opalescent teeth that wear easily due to lack of [...].
Some forms of osteogenesis imperfecta have tooth abnormalities, including opalescent teeth that wear easily due to lack of **dentin.** this is known as dentinogenesis imperfecta
57
The features of DiGeorge syndrome (22q11 microdeletion syndrome) may be remembered with the mnemonic "CATCH 22": ## Footnote C: [...] A: Abnormal facies T: Thymic aplasia C: Cardiac abnormalities (truncus arteriosus, tetralogy of Fallot) H: Hypocalcemia (lack of parathyroids)
The features of DiGeorge syndrome (22q11 microdeletion syndrome) may be remembered with the mnemonic "CATCH 22": ## Footnote C: **Cleft palate** A: Abnormal facies T: Thymic aplasia C: Cardiac abnormalities (truncus arteriosus, tetralogy of Fallot) H: Hypocalcemia (lack of parathyroids)
58
The features of DiGeorge syndrome (22q11 microdeletion syndrome) may be remembered with the mnemonic "CATCH 22": ## Footnote C: Cleft palate A: [...] T: Thymic aplasia C: Cardiac abnormalities (truncus arteriosus, tetralogy of Fallot) H: Hypocalcemia (lack of parathyroids)
The features of DiGeorge syndrome (22q11 microdeletion syndrome) may be remembered with the mnemonic "CATCH 22": ## Footnote C: Cleft palate A: **Abnormal facies** T: Thymic aplasia C: Cardiac abnormalities (truncus arteriosus, tetralogy of Fallot) H: Hypocalcemia (lack of parathyroids)
59
The features of DiGeorge syndrome (22q11 microdeletion syndrome) may be remembered with the mnemonic "CATCH 22": ## Footnote C: Cleft palate A: Abnormal facies T: [...] C: Cardiac abnormalities (truncus arteriosus, tetralogy of Fallot) H: Hypocalcemia (lack of parathyroids)
The features of DiGeorge syndrome (22q11 microdeletion syndrome) may be remembered with the mnemonic "CATCH 22": ## Footnote C: Cleft palate A: Abnormal facies T: **Thymic aplasia** C: Cardiac abnormalities (truncus arteriosus, tetralogy of Fallot) H: Hypocalcemia (lack of parathyroids)
60
The features of DiGeorge syndrome (22q11 microdeletion syndrome) may be remembered with the mnemonic "CATCH 22": ## Footnote C: Cleft palate A: Abnormal facies T: Thymic aplasia C: [...] H: Hypocalcemia (lack of parathyroids)
The features of DiGeorge syndrome (22q11 microdeletion syndrome) may be remembered with the mnemonic "CATCH 22": ## Footnote C: Cleft palate A: Abnormal facies T: Thymic aplasia C: **Cardiac abnormalities (truncus arteriosus, tetralogy of Fallot)** H: Hypocalcemia (lack of parathyroids)
61
The features of DiGeorge syndrome (22q11 microdeletion syndrome) may be remembered with the mnemonic "CATCH 22": C: Cleft palate A: Abnormal facies T: Thymic aplasia C: Cardiac abnormalities (truncus arteriosus, tetralogy of Fallot) H: [...]
The features of DiGeorge syndrome (22q11 microdeletion syndrome) may be remembered with the mnemonic "CATCH 22": ## Footnote C: Cleft palate A: Abnormal facies T: Thymic aplasia C: Cardiac abnormalities (truncus arteriosus, tetralogy of Fallot) H: **Hypocalcemia (lack of parathyroids)**
62
The symptoms of Kawasaki disease may be remembered with the mnemonic "CRASH and burn": C: [...] R: Rash (polymorphous -\> desquamating) A: Adenopathy (cervical lymph nodes) S: Strawberry tongue (oral mucositis) H: Hand-foot erythema and edema & Burn: Fever (for \> 5 days)
The symptoms of Kawasaki disease may be remembered with the mnemonic "CRASH and burn": C: **Conjunctivitis** R: Rash (polymorphous -\> desquamating) A: Adenopathy (cervical lymph nodes) S: Strawberry tongue (oral mucositis) H: Hand-foot erythema and edema & Burn: Fever (for \> 5 days) diagnosis requires fever for \> 5 days with at least 4 of the 5 "CRASH" findings
63
The symptoms of Kawasaki disease may be remembered with the mnemonic "CRASH and burn": C: Conjunctivitis R: [...] A: Adenopathy (cervical lymph nodes) S: Strawberry tongue (oral mucositis) H: Hand-foot erythema and edema & Burn: Fever (for \> 5 days)
The symptoms of Kawasaki disease may be remembered with the mnemonic "CRASH and burn": C: Conjunctivitis R: **Rash (polymorphous -\> desquamating)** A: Adenopathy (cervical lymph nodes) S: Strawberry tongue (oral mucositis) H: Hand-foot erythema and edema & Burn: Fever (for \> 5 days) diagnosis requires fever for \> 5 days with at least 4 of the 5 "CRASH" findings
64
The symptoms of Kawasaki disease may be remembered with the mnemonic "CRASH and burn": C: Conjunctivitis R: Rash (polymorphous -\> desquamating) A: [...] S: Strawberry tongue (oral mucositis) H: Hand-foot erythema and edema & Burn: Fever (for \> 5 days)
The symptoms of Kawasaki disease may be remembered with the mnemonic "CRASH and burn": C: Conjunctivitis R: Rash (polymorphous -\> desquamating) A: **Adenopathy (cervical lymph nodes)** S: Strawberry tongue (oral mucositis) H: Hand-foot erythema and edema & Burn: Fever (for \> 5 days) diagnosis requires fever for \> 5 days with at least 4 of the 5 "CRASH" findings
65
The symptoms of Kawasaki disease may be remembered with the mnemonic "CRASH and burn": C: Conjunctivitis R: Rash (polymorphous -\> desquamating) A: Adenopathy (cervical lymph nodes) S: [...] H: Hand-foot erythema and edema & Burn: Fever (for \> 5 days)
The symptoms of Kawasaki disease may be remembered with the mnemonic "CRASH and burn": C: Conjunctivitis R: Rash (polymorphous -\> desquamating) A: Adenopathy (cervical lymph nodes) S: **Strawberry tongue (oral mucositis)** H: Hand-foot erythema and edema & Burn: Fever (for \> 5 days) diagnosis requires fever for \> 5 days with at least 4 of the 5 "CRASH" findings
66
The symptoms of Kawasaki disease may be remembered with the mnemonic "CRASH and burn": C: Conjunctivitis R: Rash (polymorphous -\> desquamating) A: Adenopathy (cervical lymph nodes) S: Strawberry tongue (oral mucositis) H: [...] & Burn: Fever (for \> 5 days)
The symptoms of Kawasaki disease may be remembered with the mnemonic "CRASH and burn": C: Conjunctivitis R: Rash (polymorphous -\> desquamating) A: Adenopathy (cervical lymph nodes) S: Strawberry tongue (oral mucositis) H: **Hand-foot erythema and edema** & Burn: Fever (for \> 5 days) diagnosis requires fever for \> 5 days with at least 4 of the 5 "CRASH" findings
67
The symptoms of Kawasaki disease may be remembered with the mnemonic "CRASH and burn": C: Conjunctivitis R: Rash (polymorphous -\> desquamating) A: Adenopathy (cervical lymph nodes) S: Strawberry tongue (oral mucositis) H: Hand-foot erythema and edema & Burn: [...]
The symptoms of Kawasaki disease may be remembered with the mnemonic "CRASH and burn": C: Conjunctivitis R: Rash (polymorphous -\> desquamating) A: Adenopathy (cervical lymph nodes) S: Strawberry tongue (oral mucositis) H: Hand-foot erythema and edema & Burn: Fever **(for \> 5 days)** diagnosis requires fever for \> 5 days with at least 4 of the 5 "CRASH" findings
68
Treatment of Von Gierke disease includes avoidance of [...] and [...].
Treatment of Von Gierke disease includes avoidance of **fructose** and **galactose**. fructose and galactose both lead to increased glucose-6-phosphate, which increases G6P accumulation in the liver
69
Treatment of von Gierke disease includes frequent oral [...] or cornstarch.
Treatment of von Gierke disease includes frequent oral **glucose** or cornstarch.
70
What chromosomal deletion is associated with DiGeorge syndrome?
22q11 microdeletion
71
What class of drugs are contraindicated in C1 esterase deficiency?
ACE inhibitors
72
What congenital heart defect is associated with lithium exposure in utero?
Ebstein anomaly
73
What demographic is classically effected by Kawasaki disease?
Asian children \< 5 years old
74
What is the mode of inheritance of Fabry disease?
X-linked recessive
75
What is the mode of inheritance of Wiskott-Aldrich syndrome?
X-linked recessive
76
What lysosomal storage disease presents with optic atrophy?
Krabbe disease
77
78
Which complement protein is decreased in all forms C1 esterase inhibitor deficiency?
C4
79
Which lysosomal storage disease is associated with osteoporosis, bone crises, avascular necrosis, and pancytopenia?
Gaucher disease pancytopenia secondary to increased blood cell consumption by enlarged spleen; bone pathologies due to lysosomal proteolytic enzymes and inflammatory mediators that are destructive to bone
80
Which lysosomal storage disease is caused by deficiency of galactocerebrosidase?
Krabbe disease
81
Which lysosomal storage disease is caused by deficiency of glucocerebrosidase (β-glucosidase)?
Gaucher disease
82
Which lysosomal storage disease is characterized by "foam cells" (lipid-laden macrophages)?
Niemann Pick disease
83
Which lysosomal storage disease is characterized by an "onion skin" lysosome?
Tay-Sachs disease
84
Which lysosomal storage disease is characterized by deficiency of α-galactosidase A?
Fabry disease
85
Which lysosomal storage disease is characterized by macrophages resembling crumpled tissue paper?
Gaucher disease
86
Which lysosomal storage disease may present with progressive renal failure and cardiovascular disease?
Fabry disease (late)
87
Which lysosomal storage diseases (2) have an X-linked recessive inheritance?
Fabry disease, Hunter syndrome the rest are autosomal recessive
88
[...] disease may also be referred to as mucocutaneous lymph node syndrome.
**Kawasaki** disease may also be referred to as mucocutaneous lymph node syndrome.

Pediatrics (20 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions