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Pediatrics Flashcards

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1
Q

6 months (3)

A

Sits unassisted

Babbles

Stranger anxiety

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2
Q

9-10 months (3)

A

Crawls

Pulls to stand

Pincer grasp

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3
Q

12 months (7)

A

Walks along
(first steps independently)
Throws object

Two finger pincher

1-3 words

Separation anxiety

Weight triples
Height increases by 50%

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4
Q

2 years old (4)

A

Walks up and down steps
Jumps

Builds tower 6 cubes

2 word phrases

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5
Q

3 years old (4)

A

Rides tricycle

Climbs stairs alternating feet

Copies circle

3 word sentences

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6
Q

4 years (2)

A

Hops

Copies cross

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7
Q

Bedwetting normal

A

Until 5 years old

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8
Q

Failure to thrive

A

Falls of weight curve first

Then height

Then head

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9
Q

Upslant eyes
Epicanthal folds
Single palmar crease

  • Name
  • Associated findings (7)
A

Down Syndrome

Trisomy 21

Duodenal atresia
Hirschsprung disease
ASD
VSD
PDA
ALL
Hypothyroidism
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10
Q

Rocker bottom feet
Low set ears
Micrognathia
Overlapping fingers

  • Name
  • Associated findings (2)
A

Edwards syndrome

Trisomy 18

VSD
Horseshoe kidneys

Death within 1 year

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11
Q 
Microphthalmia
Microcephaly
Cleft lip
Holoprosencephaly
Polydactyly
Omphalocele
A

Patau syndrome

Trisomy 13

Death within 1 year

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12
Q

Delayed puberty in males

A

No testicular enlargement in boys by 14 years old

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13
Q

Breast development
No pubic hair

Amenorrhea

  • Name
  • Genetics
A

Androgen insensitivity syndrome

X linked mutation

46 XY

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14
Q

Turner syndrome need what

A

Estrogen replacement

Without increased risk for delayed puberty and osteoporosis

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15
Q

Tall stature
Male
Long extremities
Gynecomastia

  • Name
  • Genetics
  • Tx
  • Associated with
A

Klinefelter

47 XXY
(Barr body)

Tx: testosterone

Associated with advance maternal age

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16
Q

Widely spaced nipples
Murmur
Lymphedema of hands and feet
Neonate

  • Name
  • Genetics
  • Also seen
A

Turner syndrome

45 XO

Horseshoe kidney

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17
Q

18 month old
Light skinned child , blue eyes with developmental delay

Musty odor
Eczema

  • Name
  • Deficiency
  • Inheritence
  • Tx
A

Phenylketonuria (PKU)

Deficiency of phenylalanine hydroxylase

AR

Tx: Modify diet (decrease phenylalanine [artifical sweeteners] and increase tyrosine)

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18
Q

Neuropathic limb pain
Joint swelling

Angiokeratomas
Telangiectasias

Renal failure

  • Name
  • Deficiency
  • Accumulation
  • Genetics
A

Fabry disease

Alpha-galactosidase A deficiency

Accumulation of ceramide trihexoside

X linked recessive

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19
Q

Painless papules on lower abdomen
peripheral neuropathy
glomerulopathy (renal failure)

  • Name
  • Deficiency
  • Accumulation
A

Fabry disease

Deficient: alpha- galactosidase

Accumulation: ceramide trihexoside; globotriaosylceramide

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20
Q

Lysosomal storage disease

  • accumulation of CM2 ganglioside
  • associated with renal failure
A

Tay-Sach

Fabry disease

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21
Q 
Peripheral neuropathy
Seizures 
Optic atrophy 
Developmental delay 
Weakness
  • Name
  • Deficiency
  • Accumulation
  • genetics
A

Krabbe disease

Deficient: galactocerebrosidase

Accumulation: galactocerebroside

AR

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22
Q

What type lysosomal storage diseases have myelin sheath pathology leading to peripheral neuropathy

A

Krabbe disease

Metachromatic leukocystrophy

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23
Q 
Hepatosplenomegaly
Cherry red spot 
Painful bony lesions 
Anemia 
Fatigue 
thrombocytopenia
  • Name
  • Deficiency
  • Accumulation
  • Microscopically
A

Gaucher disease

Deficient: glucocerebrosidase

Accumulation: Glucocerebroside

Prominent blue cytoplasmic fibrils (crumpled tissue paper)

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24
Q 
Hepatosplenomegaly
Cherry red spot 
Thrombocytopenia 
Ataxia 
Dysarthria 
Dysphagia 
Gradual worsening of intellectual fxn
  • Name
  • Deficiency
  • Accumulation
  • Mircoscopically
  • Genetics
A

Niemann-Pick disease

Deficient: Sphingomyelinase

Accumulation: sphingomyein

Foam cells

AR

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25
Q

Irritability
Regression of motor skills
Macrocepahly
Cherry red spot

  • Name
  • Deficiency
  • Accumulation
  • Genetics
A

Tay-Sachs

Deficient: hexosaminidase A

Accumulation: GM2 ganglioside

AR

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26
Q

Which lysosomal storage disease
1) Accumulation of dermatan sulfate

2) Deficiency in hexosaminidase

A

1) Hurler dis, hunter syn, scheic syn

2) Tay-sach disease

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27
Q 
A 2-year-old child with failure to thrive since infancy now exhibits a seizure. Physical examination shows hepatomegaly and ecchymoses of the skin. Laboratory studies show a blood glucose level of 31 mg/dL. A liver biopsy specimen shows cells filled with clear vacuoles that stain positive for glycogen. Which of the following conditions is most likely to produce these findings? 
A Hurler syndrome 
B McArdle disease 
C Pompe disease 
D Tay-Sachs disease 
E Von Gierke disease
  • Name
  • Deficiency
A

E. Von Gierke

Def glucose-6-phosphatase

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28
Q

Muscle wasting
Weakness
Progressive vision loss
Dementia

  • Name
  • Deficiency
  • Accumulation
  • Genetics
A

Metachromatic leukodystrophy

Deficient: arylsulfatase

Accumulation: cerebroside sufate

AR

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29
Q 
Progressive deterioration
Coarse facial features 
Hepatosplenomegaly 
Intellectual disability 
Poor growth (dwarfism) 
Corneal clouding
  • Name
  • Deficiency
  • Accumulation
  • Genetics
A

Hurler syndrome

Deficient: alpha-L-iduronidase

Accumulation: heparan sulfate and dermatan sulfate

AR

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30
Q

Clouding of cornea

  • Name
  • Deficiency
  • Accumulation
A

Mucopolysaccharidosis (hurler syndrome)

Deficient: alpha-L-iduronidase

Accumulation: heparan sulfate and dermatan sulfate

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31
Q 
2 y.o
Progressive deterioration 
Coarse facial features 
Hepatosplenomegaly 
Intellectual disability 
Poor growth (dwarfism) 
Aggressive behavior
  • Name
  • Deficiency
  • Accumulation
  • Genetics
A

Hunter syndrome

Deficient: iduronate sulfatase

Accumulation: heparan sulfate and dermatan sulfate

X linked recessive **

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32
Q 
Developmental delay
Difficulty seeing board 
Tall, thin habitus 
Elongated limbs 
Lens subluxation 
Thrombus and infarct
  • Name
  • Error
  • Deficiency
  • Genetics
    Supplement?
A

Homocystinuria

Error of methionine metabolism

AR deficiency cystathionine beta-synthase that requires pyridoxine (Vit B6) as cofactor

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33
Q 
A 6-year-old girl is found to be nearsighted during a vision screening at school, and the school nurse tells the parents the child should be fitted for corrective lenses. Her mother is upset because her daughter is already much taller than her classmates, has an awkward gait, and was recently diagnosed with scoliosis. She is afraid that the glasses will only add to her daughter’s problems at school, where her classmates  frequently tease her. When the ophthalmologist observes that the patient’s right lens is dislocated, he suspects that her symptoms are in fact related to an enzyme deficiency. As a result of this deficiency, which of the following amino acids is essential in this patient’s diet? 
(A) Cysteine 
(B) Lysine 
(C) Methionine 
(D) Tryptophan 
(E) Tyrosine
A

The correct answer is A.

Homocystinuria is an inborn error of metabolism caused by a defect in cystathionine synthase, the enzyme that converts homocysteine to cystathionine. Cystathionine
is later converted to cysteine, so patients
with this enzyme defi ciency are required
to supplement their diets with exogenous
cysteine. In addition to marfanlike features and subluxation of the lens, these patients are at increased risk of a variety of cardiovascular derangements,
includin

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34
Q 
Intellectual disability
Tall stature 
Osteoporosis 
Kyphosis 
Atherosclerosis 
Subluxation of lens (down ward)
  • Name
  • Features (5)
  • Genetics
A

Homocystinuria

Fair hair and eye
Developmental delay
Cerebrovascualr accidents
Marfanoid body habitus

AR

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35
Q

Fragile X syndrome

  • Genetics
  • Mutation
  • MOA
  • Repeat
  • Features (6)
A

X linked trinucleotide repeat

Mutation for FMR1 gene which codes for FMRP cytoplasmic protein

Involved in mRNA translation of axons and dendrites

CGG repeat

Macro-orchidism 
Long face 
Large jaw 
Everted ears 
Mitral valve prolapse 
Intellectual disability
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36
Q 
Macro-orchidism
Long face 
Large jaw 
Everted ears 
Intellectual disability

Additonal feature

A

Fragile X syndrome

MVP

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37
Q

CAG

  • cause
  • inheritence
  • signs

CGG

  • cause
  • inheritence
  • signs

CTG

  • cause
  • inheritence
  • signs

GAA

  • cause
  • ineritence
  • signs
A

Huntington disease

  • AD

Fragile X syndrome

  • gene hypermethylation
  • X linked dominant
  • Protruding chin, giant gonads

Myotonic dystrophy

  • AD
  • Cataracts, Toupee (early balding) , gonadal atrophy
  • abnormally long handshake

Friedreich ataxia

  • AR
  • Ataxic gait
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38
Q 
AR trinucleotide repeat disorder
Staggering gait 
Falling 
Nystagmus 
Pes cavus 
Kyphoscoliosis
  • Name
  • Genetics
  • Mutation
A

Friedreicha ataxia

GAA

Mutation for gene that codes for frataxin (mitochondrial protein that is involved in iron detoxifying and storage)

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39
Q

Large Jaw
Macroorchidism
Long face
Large ears

  • inheritence
  • mutation
  • causes
  • assoc with
A

Fragile X syndrome

X linked dominant

Trinucleotide repeat in FMR1 (CGG)

–> hypermethylation

Autism
Mitral valve prolapse

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40
Q

Cherry red spot
Lysosomes onion skin
No hepatosplenomegaly
Progressive neurodegeneration

  • Name
  • Deficiency
  • Accumulation
  • Genetics
A

TaySachs

deficient: Hexosaminidase A
accumulate: GM2 ganglioside

AR

tAy-saX
heXosaminidase A

” a Gang of 6 small Jews”

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41
Q

Painless papules on lower abdomen (small red/blue marks)

peripheral neuropathy

glomerulopathy (renal failure)

Decreased sweat ( hypohidrosis)

  • Name
  • Genetics
  • Deficiency
  • Accumulation
A

Fabry disease

XR

Deficient: alpha- galactosidase

Accumulation: ceramide trihexoside; globotriaosylceramide

“my fabrite activity is ceramics class we made a galaXy”

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42
Q 
A 3-year-old girl is brought to her pediatrician because of a progressive loss of motor function and a decline in her cognitive abilities. On physical examination, it is noted that the patient has decreased deep tendon reflexes, truncal ataxia, and a decreased attention span in comparison to the child’s last visit 6 months ago. The physician knows that her pathology is due to an abnormal accumulation of cerebroside
sulfate in her brain, peripheral nerves, kidney, and liver. A defi ciency of which of the following 
enzymes leads to this condition? 
(A) α-Galactosidase A 
(B) β-Galactosidase 
(C) Arylsulfatase A 
(D) Hexosaminidase A
(E) Sphingomyelinase
  • Name
  • MOA
  • Deficiency
  • Accumulation
  • Genetics
A

(C) Arylsulfatase A

Metachromatic leukodystrophy

Central and peripheral demyelination with ataxia and dementia

Deficiency arylsulfatase A
Accumulation cerebrosulfate

AR

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43
Q

Metachromatic leukodystrophy

  • MOA
  • Deficiency
  • Accumulation
  • Genetics
A

Central and peripheral demyelination with ataxia and dementia

Deficiency arylsulfatase A
Accumulation cerebrosulfate

AR

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44
Q

Krabbe diease

  • MOA
  • Effect
  • Features (2)
  • Imaging (1)
  • Deficiency
  • Accumulation
  • Genetics
A 
Peripheral neuropathy
Destruction of oligodendrocytes 
Developmental delays
Optic atrophy 
GLobid cells

Deficiency: galactocerebrosidase
Accumulated: galactocerebroside psychosine

AR

“This Krabbe is galaxy headed”
This krab is out of this world”
big glob of krab= globoid

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45
Q

Numbness and tingling in extremities
Blurriness in eyes
Developmental delays

  • Name
  • Deficiency
  • Accumulation
  • Genetics
A

Krabbe

Deficiency: galactocerebrosidase

Accumulated: galactocerebroside psychosine

AR

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46
Q 
Hepatomegaly
Pancytopenia 
Osteoporosis 
Avascular necrois of femur 
Lipid laden marcophages - crumped tissue paper

Cherry red spot

  • Name
  • Deficiency
  • Accumulation
  • Genetics
A

Gaucher disease

Def: glucocerebrosidase

Accum: glucocerebroside

AR

” oh my gauch hes such a bro”
crying voice= tissue paper cytoplasm

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47
Q

Progressive neurodegeneration
Hepatosplenomegaly
Lipid-laden macrophages
cherry red spot

  • Name
  • Deficiency
  • Accumulation
  • Genetics
A

Niemann-Pick disease

Def: sphingomyelinase

Acc: sphingomyelin

AR

“Pick your BIG nose with your sphinger”

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48
Q

Hepatosplenomegaly
Corneal clouding
Gargoylism
Developmental delay

  • Name
  • Deficiency
  • Accumulation
  • Genetics
A

Hurler syndrome

Def: alpha-L- iduronidase

Accum: heparan sulfate, dermatan sulfate
Glycosaminoglycans (GAGs)

hurLer= L-iduronidase

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49
Q 
2 y.o
Progressive deterioration 
Coarse facial features
Hepatosplenomegaly 
Intellectual disability 
Poor growth (dwarfism) 
Aggressive behavior
  • Name
  • Deficiency
  • Accumulation
  • Genetics
A

Hunter syndrome

Deficient: iduronate sulfatase

Accumulation: heparan sulfate and dermatan sulfate

XR

“X marks the spot”
“Id hunt it my sulf, dermined
Cant hunt w/ corneal clouding

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50
Q

Meconium ileus

A

Cystic fibrosis

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51
Q

Cystic fibrosis deficiency of

A

Vitamins A, D, E, K

Fat soluble vitamins

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52
Q

APGAR score

A

Activity
2- Active
1- Arms/legs flex

Pulse
2- > 100
1- < 100
0- absent

Grimace
2- Pulls away
1- Flexion extremities
0- Flaccid

Appearance
2- pink
1- blue extremities
0- blue all over

Respiration
2- vigorous cry
1- irregular respirations

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53
Q

Omphalocele associated with

A

Beckwith-Wiedemann syndrome

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54
Q

NRDS vs Transient tachypnea of newborn

A

NRDS
- Ground glass appearance

Transient tachypnea of newborn
- Perihilar streaking in interlobular fissures

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55
Q

PDA associated with

A

Congenital rubella

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56
Q

DiGeorge syndrome

  • Inheritence
  • Features (8)
  • Genetics
A

AD

Tetralogy of Fallot
VSD

Micrognathia
Long face
Low set ears

Thymic aplasia
Cleft palate
Hypocalcemia

22q11

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57
Q

Pyloric stenosis lab (3)

A

Hypochloremic
Hypokalemic
Metabolic alkalosis

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58
Q

Malrotation with volvulus

  • Occurs
  • Features (4)
  • Imaging
A

First month of life

Bilious emesis
Crampy abdominal pain
Distention
Passage of blood or mucus in stool

Bird beak appearance

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59
Q

Failure to pass meconium
FFT
Abdominal distention

Explosive discharge on rectal exam

  • Name
  • MOA
A

Hirschsprung disease

Lack of ganglion cells in distal colon

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60
Q

Low urine output

Mass above pubis

A

Distended bladder

Posterior urethral valves

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61
Q

Kawasaki disease

  • Features (6)
  • Risk
A

CRASH and BURN

Conjuntivitis
Rash
Adenopathy (unilateral)
Strawberry tongue
Hands and feet (red, swollen, flaky skin)
BURN fever > 104 for > 5 days

Risk of aneurysm

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62
Q

6 month old boy
Recurrent infections
S. pneumoniae
Pseudomonas

Absent tonsils

  • Name
  • Genetics
  • MOA
  • Affects who
A

Bruton agammaglobulinemia

X linked recessive
B cell deficiency

Only in boys

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63
Q

Male

Thrombocytopenia

Bleeding
Eczema
Recurrent otitis media

  • Name
  • Genetics
  • Causes (2)
A

Wiskott Aldrich syndrome

X linked recessive

Increased IgE/IgA
Decreased IgM

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64
Q

Ataxia
spider angiomas on face
IgA deficiency

  • defect
  • failure
  • increased
  • decreased
  • increase risk of
A

Ataxia telangiectasia

Defects in ATM gene
Failure to repair DNA ds breaks –> cell cycle arrest

Increase AFP
Decreased IgA, IgG, IgE
Lymphopenia

Incrased risk lymphoma and leukemia

Radiation sensitive try to avoid X rays

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65
Q

Recurrent skin and mucosal infections
No pus
Impaired wound healing
Delayed separation of umbilical cord

  • Name
  • Defect
  • MOA
  • Genetics
  • Causes (2)
A

Leukocyte adhesion deficiency (type 1)

Defect LFA-1 integrin (CD18) protein on phagocytes

Impaired migration and chemotaxis

AR

Increased neutrophils
Absence of neutrophils at infection site

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66
Q

Giant cytoplasmic granules in PMN
Partial albinism
Recurrent respiratory tract and skin infections
Neurologic disorders

  • Name
  • Genetics
  • Defect
  • MOA
  • Features (5)
A

Chediak- Higashi syndrome

AR

LYST gene defect
(lysosomal transport)

Defective phagocyte lysosome fusion

Pancytopenia

PAIN triangle

  • giant cytoplasmic granules
  • partial albinism
  • infections
  • neurologic disorders
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67
Q

A pediatrician becomes concerned after learning the family and medical history of an infant who is currently suffering from pneumonia, with a presumed diagnosis of Streptococcus pneumoniae infection. Over the past year, the patient has suffered from erysipelas as well as a previous bout of pneumococcal pneumonia; both were treated successfully with antibiotics. The patient’s mother says that her son’s maternal uncle also suffered from repeated bacterial infections and was successfully treated with antibiotics. On physical examination, it appears that the patient does not have tonsils. His mother denies a previous tonsillectomy. Analysis of the boy’s serum would most likely yield which of the following results?
(A) Absence of T lymphocytes
(B) <200 CD4+ T lymphocytes/mm3
(C) IgA, IgG, and IgM levels normal
(D) IgG and IgM levels markedly decreased,
no IgA
(E) IgG and IgM levels normal, IgA markedly
decreased

A

(D) IgG and IgM levels markedly decreased,
no IgA

Bruton’s agammglobulinemia

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68
Q 
2. A 23-year-old man comes to the physician with a bacterial infection. On questioning the patient reveals a history of recurrent bacterial, fungal, and viral infections. Blood is drawn and sent for laboratory analysis, which reveals all levels of immune cells (eg., T lymphocytes, B lymphocytes) are low. Which of the following conditions is most likely to have caused the patient’s symptoms?
(A) Ataxia-telangiectasia
(B) Chédiak-Higashi disease
(C) Common variable immunodefi ciency
(D) Job’s syndrome
(E) Severe combined immunodefi ciency
(F) Wiskott-Aldrich syndrome
(G) X-linked agammaglobulinemia
A

E. Severe combined immunodeficiency

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69
Q 
9. A 12-year-old girl is brought to the pediatrician by her mother because of a fever. The physician notes that the girl has features of albinism and the mother states that her daughter has always looked the way she does. The physician diagnoses the girl with a staphylococcal infection and prescribes a course of antibiotics. Three months later, the child returns to the pediatrician with another streptococcal infection. The patient’s medical records indicate that she has had repeated bouts of staphylococcal and streptococcal infections for her entire life. This patient most likely has which of the following types of immune deficiency?
(A) Chédiak-Higashi disease
(B) Chronic granulomatous disease
(C) Hyper-IgM syndrome
(D) Selective IgA defi ciency
(E) Severe combined immunodeficiency
  • Name
  • Genetics
  • Deficiency
A

A. Chediak-Higashi disease

AR

Deficiency in lysosomal emptying of phagocytic cells due to defect in microtubular function

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70
Q
  1. Hyper-IgM syndrome usually presents with severe pyogenic infections. The typical immunoglobulin profile in a patient with this disease shows an elevated level of IgM in contrast to the other immunoglobulin isotypes. Which of the following is the etiology behind the increased level of IgM in a patient with hyper- IgM syndrome?
    (A) A defect in DNA repair enzymes
    (B) A defect in LFA-1 adhesion proteins on
    phagocytes
    (C) A defect in the CD40 ligand on CD4 T
    helper cells
    (D) Failure of interferon-! production
    (E) Failure of the thymus and parathyroid
    glands to develop
  • MOA (2)
A

C. Hyper IgM Syndrome

Defect in CD40 ligand on CD4 T helper cells

Cant class switch

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71
Q 
23. A 14-year-old boy presents to the physician with recurrent pyogenic infections. Physical examination shows that the boy has pruritic papulovesicular dermatitis. Blood is drawn and sent for laboratory evaluation of platelets and immunoglobulin levels. The results show a markedly low platelet count, a low serum IgM level, and an elevated IgA level. This patient most likely has which of the following conditions?
(A) Bruton’s agammaglobulinemia
(B) Chédiak-Higashi disease
(C) Job’s syndrome
(D) Thymic aplasia
(E) Wiskott-Aldrich syndrome
  • Name
  • Features (3)
A

E. Wiskott aldrich syndrome

Recurrent pyogenic infections
Eczema
Thrombocytopenia

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72
Q
  1. A 2-year-old boy is brought to the physician by his parents because of recurrent sinus infections. The parents also state that the boy has had multiple lung infections. Which of the following results would most likely be found on further testing?
    (A) A deficit in IgA level
    (B) A low IgM level, with increased IgA
    (C) A negative nitroblue tetrazolium dye test
    (D) An increase in IgE level
    (E) A normal Ig level for all isotypes
A

A. Selective immunoglobulin deficiency

IgA is most common

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73
Q
  1. A 23-year-old woman comes to the physician for a routine checkup. She has generally been well over the past year, although she notes that she has “had a few falls lately.” On physical examination, the lesion shown in the image is found on her skin. Blood is drawn for laboratory evaluation. The results show that the woman has very low levels of IgA. Based on her presentation, this patient will most likely also present with which of the following symptoms?

Spot near eye where you can see blood vessel lines

  • Name
  • MOA
A

A. Ataxia telangiectasia is a defect in DNA repair enzymes

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74
Q
  1. A 10-year-old boy with an x-linked immunodeficiency disease suffers from chronic recurrent gut inflammation, which modestly improves with cyclosporine therapy. The child has had previous laboratory evaluation that showed a
    negative reaction to the nitroblue tetrazolium test. The patient’s father wants to know how his son can have both an immunodeficiency disease as well as an autoimmune disease. Deficiencies in which of the following immunologic processes or molecules provides a logical link between this child’s immunodeficiency and his autoimmune gut inflammation?
    (A) Antibodies
    (B) IgA
    (C) IgM
    (D) Lysosomes
    (E) Neutrophils
A

E. Chronic granulomatous disease

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75
Q
  1. A 3-month-old girl is brought to her pediatrician because she has a high fever and cough. The patient is started on an antibiotic regimen. Over the next 24 hours her condition deteriorates and she is brought to the emergency department.
    Further history reveals that the child’s birth was complicated by a delayed umbilical
    separation. This patient most likely has
    which of the following immune defi ciencies?
    (A) Chronic granulomatous disease
    (B) Leukocyte adhesion defi ciency syndrome
    (C) Selective IgA defi ciency
    (D) Severe combined immunodefi ciency
    (E) Wiskott–Aldrich syndrome
A

B. Leukocyte adhesion deficiency

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76
Q
  1. A 7-year-old boy presents to the clinic with a staphylococcal infection. He is well known at the clinic because he has had recurrent staphylococcal infections for most of his life. He is started on an antibiotic regimen and the infection subsides. Three weeks later, the boy is diagnosed with pruritic papulovesicular dermatitis. Which of the following immune deficiency syndromes would account for this patient’s recurrent
    staphylococcal infections and pruritic papulovesicular dermatitis?
    (A) Ataxia-telangiectasia
    (B) Bruton’s agammaglobulinemia
    (C) Job’s syndrome
    (D) Thymic aplasia
    (E) Wiskott-Aldrich syndrome
  • Name
  • Failure of
  • MOA
  • Features (3)
A

C. Job’s syndrome

Failure of helper T lymphocytes to produce IFN-gamma

Decreased in activation of phagocytic cells —> failiure of neutrophils to respond to stimuli

Recurrent staphylococcal abscesses
Eczema
High IgE

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77
Q

Dihydroorhodamine (DHR) test

Nitroblue tetrazolium test

A

Chronic granulomatous disease

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78
Q

Recurrent neisseria infections

A

Terminal complement deficiency (C5-C9)

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79
Q

Recurrent episodes of angioedema lasting 2-72 hours

Provoked by stress or trauma

A

C1 esterase inhibitor deficiency (hereditary angioedema)

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80
Q

SOB
Fever, chills

Hx Cystic fibrosis

Nasal flaring
Barrel shaped chest

Clubbing

  • Name
  • Organism
A

Bronchiectasis

S. Aureus

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81
Q

Type 1 DM at risk for

A

Celiac disease

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82
Q

Direct hyperbilirubinemia

2-8 weeks

Pale stools
Hepatomegaly

A

Biliary atresia

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83
Q

Underdeveloped phallus

Ectopic urethral meatus

Elevated 17-hydroxyprogesterone

  • Name
  • Genotype
A

CAH

46,XX

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84
Q

Edema
Hypoalbuminemia
Elevate protein

A

Nephrotic syndrome

Minimal change disease
Focal segmental glomerulosclerosis
Memranous nephropathy

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85
Q

Edema
Hypoalbuminemia
Elevated protein > 3 g

Hep B infxn

A

Membranous nephropathy

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86
Q

Joint hypermobility
Long fingers
Tall
Scoliosis

Lens dislocation

  • Name
  • Additional feature
A

Marfan syndrome

Aortic root dilation

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87
Q

Ehlers danlos

  • Caused by
  • Features (3)
  • Not seen
A

Collagen disorder

Scoliosis
Joint laxity
Aortic dilation

NOT TALL

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88
Q

Cyanosis
Mild nasal congestion
Low fever

Bronchiolitis 6 months ago other wise helathy

Pulse ox 85%

100% oxygen fails to increase pulse or fix cyanosis

  • Name
  • exposure
  • Normal
  • Tx/ MOA
A

Methemoglobinemia

Exposure to oxidizing substances

  • Dapson
  • Nitrites
  • Local anesthetic

Normal PaO2

Tx: Methylene blue
- Electron acceptor for NADPH which reduces methemoglobin to hemoglobin

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89
Q

Recurrent skin abscesses

Staph Aureus

Serratia infxn

  • Name
  • Genetics
  • MOA
A

Chronic granulomatous disease

X link immunodeficiency

Abnormalities of enzyme NADPH oxidase, no formation of superoxide radicals

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90
Q

Tx Campylobacter gastroenteritis

A

Self limiting

Symptomatic care

Antibiotics only if > 7 days

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91
Q

8 y.o

Profuse Oily non bloody diarrhea

Foul smelling

Sick last month
Just returned from lake house

  • Name
  • MOA
  • Tx
A

Giardiasis

Local epithelial disruption

Tx: Tinidazole

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92
Q

Dull left side headache

Throbbing pain near temple

Surgery yesterday

  • Name
  • Tx (3)
A

Migraine

Tx: Dark room, NSAIDS

Refractory: Triptan

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93
Q

Breast development
Pubic hair

Hyperpigmented macules on back

2 long bone fractures

  • Name
  • Genetic
  • MOA
  • Features (5)
A

McCune Albright syndrome

GNAS gene
Constant G protein activation —> overproduction of pituitary hormones

Polyostotic fibrous dysplasia (fractures)

Precocious puberty

Thyrotoxicosis

Acromegaly

Cushing syndrome

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94
Q

Fever for weeks

High temp in evening with rash

Resolves in morning

Body aches

Swelling of both knees

  • Name
  • Features (4)
A

Juvenile idiopathic arthritis (JIA)

Hepatosplenomegaly
Lymphadenopathy
Leukocytosis
Thrombocytosis

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95
Q

Dark urine 2 days

Fever and sore throat three weeks ago

HTN

RBC in urine

Periorbital edema

1+ pitting edema

  • Name
  • MOA
  • Causes
  • Features (3)
A

Acute post streptococcal glomerulonephritis

Mesangial immune complex deposits

Decreased C3 levels

Hematuria*
Edema*
HTN*

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96
Q

Vomiting
1-2 days

Repeats

Beginning of year

Hx?

A

Cyclic vomiting syndrome

Hx: Migraines

97
Q

Breastfeeding jaundice vs Breast milk jaundice

A

Breastfeeding jaundice

  • First week of life
  • Insufficient intake of breast milk
  • signs of dehydration

Tx: Increase feeding

Breast milk jaundice

  • 3-5 days peaks at 2 weeks
  • high levels of beta-glucuronidase in breast milk -> deconjugate bilirubin
98
Q

ALL vs Aplastic anemia

A

Aplastic anemia
- No pain

ALL

  • Bone pain
  • Hepatosplenomegaly
  • Anemia
  • Petechiae
  • Thrombocytopenia
99
Q

Bone pain
Worse at night

Hepatomegaly

Petechiae

Thrombocytopenia
Low Hemoglobin
Low Leukocytes

A

ALL

Leukopenia

100
Q

Recurrent sinopulmonary infections

Streptococcus pneumonia

Giardia

A

Common variable immunodeficiency
or
X linked agammaglobulinemia

Respiratory and GI infections

Salmonella
Giardia
Campylobacter

101
Q

Seen with Foreign body aspiration

A

Hyperinflation of affected side

Mediastinal shift toward unaffected side

Get Rigid bronchoscopy

102
Q

Abdominal pain
Jaundice

Palpable mass

Elevated lipase and amyase

A

Biliary cyst

- dilation of biliary tree

103
Q

Sudden ascending weakness

Diarrhea illness that resolved

  • Name
  • MOA
  • Check
  • Tx
A

Guillain Barre syndrome

Demyelination of peripheral nerve fibers

Spirometry - monitor respiratory muscle strength

IVIG or plasmapheresis

104
Q

Doll like face with round cheeks

Hepatomegaly
Seizure

Elevated lactic acid
Low glucose

  • Name
  • Accumulation
  • Key Feature (1)
A

Glucose-6-phosphatase deficiency

Glycogen accumulation

Hypoglycemia

105
Q

Tx Tourette syndrome

A

Antidopaminergic

- Tetrabenazine

106
Q

Black vomit

Radioopaque tablets

A

Iron poisoning

Deferoxamine

107
Q

Bacterial meningitis in child can cause

A

Hearing loss

108
Q

Edema
Fatigue
Abdominal pain

Proteinuria

  • Name
  • Example
  • MOA
  • Tx
A

Nephrotic syndrome

Minimal change disease

Diffuse effacement of foot processes

Tx: Prednisone

109
Q

What screening if born < 32 weeks

A

Head ultrasound for intraventricular hemorrhage

110
Q

RDS risk factor

A

Prematurity

Maternal diabets

111
Q

Alport syndrome on histologic exam

A

Longitudinal splitting of glomerular basement memebrane

112
Q

Linear deposition of IgG along the glomerular basement membrane

A

Goodpasture syndrome

Pulmonary symptoms

113
Q

Follicular conjunctivitis

A

C Trachoma

Azithromycin

114
Q

Cystic fibrosis

Recurrent sinopulmonary infections

Bibasilar crackles
Nasal flaring
Fever

  • Name
  • Organism
  • Tx (3)
A

Pneumonia

Staph aureus

Cefepime
Oseltamivir
IV Vancomycin

115
Q

Precocious puberty

Advanced bone age

High LH

A

Central precocious puberty

Get MRI of brain

116
Q

Botulism symptoms ( 5)

A

Hypotonia

Absent gag reflex

Ptosis *

Symmetric descending paralysis

Decreased salivation

117
Q

Injested pills

Acidosis

Anion gap

A

Iron pills

Pills visible on xray

118
Q

Ingested pills

N/V

Acidosis

Tinnitus

A

Salicylate (aspirin)

Pills not visable on X ray

119
Q

Premature

10 month old cant stand

Delayed gross motor milestones

Resistance to passive stretch

Hypertonia
Hyperreflexia

Feet point down and inward (equinovarus deformity)

A

Cerebral palsy (CP)

120
Q

Delayed gross motor milestones

Proximal muscle weakness

Hypotonia

A

Spinal muscular atrophy

121
Q

Iron deficiency see what

A

Low erythrocyte count

Low MCV

RBC distribution width is elevated because amount of iron available varies throughout day

122
Q

Refeeding get an increase of

A

Insulin

123
Q

Recurrent kidney stones in 18 y.o

Hexagonal crystals

A

Cystinuria

Impaired transport of cystine and amino acids

124
Q

Persistent oxygen requirements leads to what disorder

A

Bronchopulmonary dysplasia

125
Q

Inspiratory stridor

A

Laryngomalacia

126
Q

Hx Sickle cell in mother

Low urine specific gravity

No glucose in urine

Normal serum sodium

A

Hyposthenuria

HbA > HbS

127
Q

Vit K deficiency

A

Reduced coagulation factor carboxylation

128
Q

Varicocele what to do

A

Ultrasound of abdomen

129
Q

Neonates

Sleeping and feeding difficulties

Vomiting/ diarrhea

HIgh pitched cry

A

Heroin

130
Q

Medial metaphyseal corner fracture of the distal femur

A

Child abuse

Bucket-handle fracture

131
Q

Congenital lymphedema in turner syndrome due to

A

Lymphatic network dysgenesis

132
Q

Coloboma

A

Hole in one eye

CHARGE syndrome

133
Q

CHARGE syndrome

A 
Coloboma
Heart defects (VSD)
Atresia choanae
Retardation of growth
Genitourinary anomalies
Ear abnormalities (hearing loss)
134
Q

Erythematous papular rash

Small well defined lytic lesion on distal femoral diaphyseal lesion

A

Langerhans cell histiocytosis

135
Q

15 y.o develops gait instability

Speech difficult to understand

Wide based gait

Atrophy of medulla and dorsal columns of spinal cord

At risk for

  • Name
  • Genetics
  • At risk for (3)
A

Friedreich ataxia

AR

Hypertrophic cardiomyopathy

DM

Scoliosis

136
Q

Childs abdominal pain

Lower extremity purpura

Swollen and painful knee

  • Name
  • What is it
  • Biopsy
A

Henoch Schonlein purpura

IgA mediated leukocytoclastic vasculitis

Mesangial deposition of IgA

137
Q

Fever
Hives
Joint pain

1 week ago streptococcal pharyngitis, on penicillin

A

Serum sickness-like reaction

Hypersensitvity to beta lactams

138
Q

Sandpaper rash

A

Scarlet fever

139
Q

High fever

bullous lesions

Painful hemorrhagic oral erosions

Sulfa drug

A

Stevens johnson syndrome

140
Q

Bronchiolitis

  • Age
  • When
  • Most common cause
  • Features (5)
A

< 2 y.o

Fall of winter

RSV most common cause

Fever
Rhinorrhea
Cough
SOB

Intercostal retractions

141
Q

Tx Meningitis

A

Neonates
- Ampicillin and cefotaxime or gentamicin

Children: ceftriaxone and vancomycin

142
Q

Tx Pertussis

A

Azithromycin 10 days

143
Q

Red cheeks

Worse with sun exposure

Aplastic crisis

A

Erythema infectiosum (fifth disease)

Parvovirus B19

144
Q

Tumor lysis syndrome

  • Features (4)
  • Tx (3)
A

Hyperkalemia
Hyperphosphatemia
Hyperuricemia

Hypocalcemia

Just started chemotherapy

Tx: Fluids
Diuretics
Allopurinol

145
Q

Tumor

Elevated 24 hr urinary catecholamines

A

Neuroblastoma

146
Q

Abdominal mass that crosses midline

A

Neuroblastoma

Wilms doesnt cross midline

147
Q

Painless limp

Thigh muscle atrophy

6 y.o boy

Limited abduction and internal rotation

A

Legg-Calve Perthes disease

148
Q

Painful limp

Limited abduction and internal rotation

Obese

10 y.o

A

Slipped capital femoral epiphysis

149
Q

Scoliosis

A

< 20 observation

20-49 bracing

> 50 surgery

150
Q

Introducing foods

A

No solid food before 6 months

No cow milk before 12 months

151
Q

CI for specific vaccines

A

Hx intussusception dont give Rotavirus vaccine

Hep B vaccine only if > 2 kg

152
Q

Lead poisoning in house

A

Before 1950

153
Q

Infant

PDA
Sensorineural hearing loss in infant
Hepatosplenomegaly

A

Rubella

154
Q

Salt wasting

A

21-hydroxylase deficiency

Elevated 17-hydroxyprogresterone

155
Q

Epiglottitis tx

A

Haemophilus influenzae type b

Streptococcus
staph aureus

Ceftriaxone + vancomycin

156
Q

Self mutilating behavior

Gout

Neprholithiasis

A

Lesch Nyhan syndrome

157
Q

Seizures

Loss of speech

Pulling of hair

A

Rett syndrome

158
Q

Septic arthritis tx

A

Vancomycin + ceftriaxone

159
Q

Pleural effusion

Increased triglycerides

A

Exudative effusions

Pleural LDH/ serum LDH > 0.6

Pleural protein / serum protein > 0.5

Increased triglycerides= chylothorax, disruption to the thoracic duct

160
Q

Bone X ray

Small round circle

A

Osteoid osteoma

161
Q

Low CD3
Low CD 29

Tx

A

Severe combined immunodeficiency

Tx: Stem cell transplant

162
Q

Test to identify retinoblastoma

A

Dilated funduscopic exam

163
Q

Conductive hearing loss

A

Cholesteatoma
Chronic otitis media
Foreign body
Otosclerosis

164
Q

ADHD non-stimulant

A

Atomoxetine

165
Q

Narrow colon

Not passing meconium

At risk for

A

Hirschsprung disease

Risk: Chronic rhinosinusitis

CF

166
Q

Failure to gain weight

Blood pH 7.21
Urine pH 7.9

Low bicarbonate

Urine

  • K normal
  • Na normal

Normal anion gap

A 
Renal tubular acidosis
Type 1 (Distal)

Poor hydrogen secretion into urine

167
Q

Renal tubular acidosis type 2

A

Proximal

Poor bicarbonate resorption

< 5.5
Low to normal serum potassium

Fanconi

168
Q

Renal tubular acidosis type 4

A

Aldosterone resistance

pH < 5.5

High serum potassium

Obstructive uropathy
CAH

169
Q

Anion gap

A

Na-Cl-Bicarb

6-10 normal

170
Q

5 y.o

Pain with moving legs, developed suddenly

Purplish nonblanching rash

Hematuria

  • Name
  • Tx
  • Risk
A

Henoch Schonlein purpura

NSAIDS

At risk for intussuscpetion

171
Q

Tx OCD

A

SSRI

172
Q

Abdominal pain
watery diarrhea—> bloody

Seizure

Organism

A

Shigella

173
Q

Fanconi vs Diamond black fan

A

Fanconi
- anemia is pancytopenic

DBA

  • pure red cell aplasia with reticulocytopenia
  • normal platelets
  • normal WBC
174
Q

Large tongue

One leg enlarged

Hypoglycemia

  • Name
  • Genetics
  • Increased
  • Features (5)
  • Risk for (2)
  • Screening
A

Beck-With Wiedemann sydnrome

11p15

Increased insulin like growth factor

Macrosomia
Macroglossia
Hemihyperplasia
Omphalocele
Hypoglycemia

Wilms tumor
Hepatoblastoma

Get abdominal U/S and alpha feto protein every 3 months

175
Q

Mass on superior pole of right kidney

HTN

3 y.o

A

Wilms tumor
(Nephroblastoma)

2 years old

176
Q

Watery diarrhea 1-2 days after exposure

A

Norovirus

177
Q

Red swollen eye

Abrasion under eye

A

Preseptal cellulities

178
Q

Fever irritability

Erytehma and flaccid blisters all over infant

+ Nikolsky sign

A

Staphylococcal scalded skin syndrome

179
Q

Bullous impetigo

  • organism
  • appearance
  • description (2)
A

S aureus

Patietns appear well

Blisters in confined to primary area of infection

when ruptured blisters leave distinct honey colored crust

180
Q

Tx Croup

A

Humidified air + corticosteriods

If progress to moderate/ severe= stridor at rest
—> nebulized epinephrine

181
Q

Severe hydrocephalus in newborn

A

Vit K deficiency

Intracranial hemorrhage

182
Q

Hepatomegaly
Jaundice
Clear rhinorrhea
Maculopapular rash on feet and butt that desquamates

A

Syphilis

Abnormal long-bone radiographs

183
Q

Septic arthrits vs transient synovitis

A

Septic arthritis

- cant bear weight

184
Q

Failure to thrive
Greasy stools

Recurrent infections

Nose bleeds

A

CF

Pancreatic insufficiency

Vitamin deficiencies

185
Q

Telangiectasia

Headache
Vomiting

CT scan of head shows?

A

Hemorrhagic telangiectasia

Hemorrhagic stroke

Hyperdense fluid collection with irregular margins in the right cerebral cortex

186
Q

Nontender abdominal mass

Increased in VMA and HVA

A

Neuroblastoma

187
Q

Bilious emesis within hours of first feeding

A

Duodenal atresia

188
Q

Infant has high fever and onset of rash once fever breaks

At risk for

A

Roseola infantum

HHV6

Febrile seizures

189
Q

Boy has chronic respiratory infections

Nitroblue tetrazolium test is negative

A

Chronic granulomatous disease

190
Q

Child has eczema, thrombocytopenia and high levels of IgA

A

Wiskott aldrich syndrome

191
Q

4 month old with life threatening pseudomonas infection

A

Bruton X linked agammaglobulinemia

192
Q

Tx Acute phase of kawaskaki disease

A

High dose ASA for inflammation and fever

IVIG to prevent coronary artery aneurysm

193
Q

Vaccinations at 6 months

A 
HBV
DTaP
Hib
IPV
PCV
Rotavirus
Influenza
Rotate
HIP
Drop
It
Hot
194
Q

Croup caused by

A

Parainfluenza virus type 1

195
Q

Homeless child is small for age, has peeling skin and swollen belly

A

Kwashiorkor

Protein malnutrition

196
Q

Intellectual disability
Gout
Self mutilation
CHoreoathetosis

  • Name
  • Genetics
  • MOA
A

Lesch-Nyhan sydnrome

X linked

Purine salvage problem with HGPRTase deficiency

197
Q

New born with machinery murmur give what

A

PDA

Give indomethacin to close the PDA

198
Q

First bone female who was born breech position is found to have asymmetric skin folds on new born exam.

Diagnosis?
Tx?

A

Developmental dysplasia of the hip

< 6 months Pavlik harness to maintain abduction

199
Q

11 y.o obese AA boy presents with sudden onset of limp.

Diagnosis?
Work up?

A

Slipped capital femoral epiphysis

AP and frog leg lateral xrays

200
Q

Active 13 year old boy has anterior knee pain

Diagnosis?

A

Osgood-Schlatter disease

201
Q

Cardiac rhabdomyoma

A

Tuberous sclerosis

202
Q

Optic nerve glioma

A

Neurofibromatosis 1

203
Q

Vestibular schwannoma

A

Neurofbiromatosis 2

204
Q

Child severe oral pain

2 sinus infections
Cellulitis

Staph and Strep

Periodontal inflamation with ulceration and necrosis

Anemia
leukocytosis
90% neutrophils

A

Defective leukocyte adhesion

Neutrophilia

205
Q

Adenosine deaminase deficiency

  • Genetics
  • Name
  • Deficency
  • Causes
  • Lab
A

AR

Severe combined immunodeficiency

Deficient formation of mature B and T lymphocytes

Severe infections and failure to thrive

Lymphopenia

206
Q

Defective B lymphocyte maturation

  • Name
  • Causes
  • Lab
A

X linked agammaglobulinemia

Recurrent sinopulmonary and GI infections

Low B cell and immunoglobulin concentrations

207
Q 
Development of pubic hair in 5 y.o girl
Obese
No breast development
Facial acne
Normal bone age
A

Premature adrenarche

By early activation of adrenal androgens

208
Q

Headaches

Poor growth
Pubertal delay

Papilledema

A

Craniopharyngioma

Suprasellar mass with calcifications

209
Q

Nasal polyps

Digital clubbing

Recurrent infections

Vit D deficiency
Bruising

A

Cystic fibrosis

210
Q

Recurrent sinopulmonary infections

Nasal polyposis

Digital clubbing

No pancreatic insufficiency

A

Primary ciliary dyskinesia

Immotile cilia syndrome

211
Q

Newborn in respiratory distress

Place on nasal continuous positive airway pressure and iV fluids

A few minutes go by and develops acute onset of grunting and increased work of breathing

Lung sounds decreased on left

Heart sounds loudest over right side of chest

Transillumination shows increased brightness on left relative to right

A

Pneumothorax

Needle thoracostomy

212
Q

Seen with Kawasaki (9)

A

Prolonged fever

Conjunctivitis

Erythema
Fissured lips
Strawberry tongue

Polymorphous rash

Edema extremities *
Desquamation of hands and feet

Cervical lymphadenopathy

213
Q

6 months should be able to (6)

A

Sit momentarily propped on hands

Transfer objects hand to hand

Raking grasp

Respond to name
Bables

Stranger anxiety

214
Q

9 months (7)

A

Pulls to stand

Cruises

3 finger pincher

Holds bottle/ cup

Dadda, mamma

Waves

Pat a cake

215
Q

Lead level > 12 (normal < 5)

What to do?

A

Measure venous lead levels

Succimer if 45-69
EDTA if > 70

216
Q

When to introduce pureed foods to baby

A

6 months

217
Q

Meningitis in new born

A

Group B strep

218
Q

Tx Congenital diaphragmatic hernia

A

Endotracheal intubation

Gastric decompression

Surgical correction

219
Q

3 day old

Jaundice
hepatomegaly
Vomiting

Increased bilirubin
Decreased glucose
+ urine reducing substances

A

Galactosemia

Galactose-1-phosphate uridylyltransferase (GALT) deficiency

Soy based formula tx

220
Q

Glycogen storage disease vs galactosemia

A

Glycogen storage= 3-6 months

Caused by periods of fasting

Galactosemia
- within days

221
Q

Urea cycle defect

A

Lethary
Vomiting after breast milk given

Elevated ammonia level

222
Q

Diffuse scalp swelling

Anemia
Tahycardia
Pale

A

Subgaleal vein shearing

223
Q

Subperiosteal vessel rupture

A

Cephalohematoma

224
Q

FMR1 gene

  • Name
  • Features (6)
A

Fragile X

Neurobehavioral problems
Prominent forehead
Large ears
Long narrow face
Prominent chin

Macroorchidism

225
Q

Bone fractures multiple

Blue grey teeth

A

Osteogenesis imperfecta

226
Q

Juvenile myoclonic epilepsy

A

Adolescents

Myoclonic jerks immediately on wakening

227
Q

Child started staring off, head tilt to right and arm twitching

Chewing of lips

Didnt respond to name 2-3 minutes

Couldnt make arm 5-10 minutes afterwards

A

Focal seizure

228
Q

Down syndrome associated with dilated bowel

A

Hirschsprung disease

Failure of neural crest cell migration during fetal intestinal development

229
Q

Genotype of Kallmann syndrome

A

46, XX

Anosmia (inability to distinguish odors)

230
Q

16 y.o right knee swelling

Symptoms after soccer practice yesterday

Mild stiffness

Fatigue and flulike illnesses over part month

Pain occurring in variable joints

Yellow translucent fluid
Leukocytosis

Nothing on gram stain

A

Borrelia burgdorferi infection

231
Q

Aspirin given to child

  • Name
  • Feature (2)
  • Increased (6)
A

Reyes syndrome

Acute liver failure
Encephalopathy

Increased AST, ALT

Increased PT, INR, PTT

Increased NH3

232
Q

Meningitis

Lymphocytosis
Elevated protein
Normal glucose

A

Aseptic (viral) meningitis

HIV infection

233
Q

How to prevent measles spead

A

Airborne precautions

Negative pressure room
N95 face mask

234
Q

Retinal hemangioblastoma

  • Name
  • Also seen (2)
  • Genetics
  • Also found
A

Von Hippel Lindau disease

Pheochromocytoma
Renal cell carcinoma

AD

Vision loss

235
Q

5 month old

Seizures
Hypopigmented ellipitical macules on chest

What intracranial lesions

  • Name
  • Description
  • Also found (6)
A

Tuberous sclerosis

Subependymal giant cell tumor

Rhabdomyomas in heart

Renal: angiomyolipomas

Epilepsy
Autism

Antiofibromas of the malar region
Shagreen patches

236
Q

Night blindness

Optic disc pallow
Attenuation of retinal vessels with focal areas of discoloration bilaterally

  • Name
  • Mutation
  • Causes (3)
A

Retinitis pigmentosa

Genetic mutation causing loss of photoreceptors

Progressive retinal degeneration

Loss of midperiphery

Legally blind by 40

237
Q

Yellow eyes
Jaundice
Pale conjunctiva

Splenomegaly

Anemia
Reticulocytes
MCV low

Elevated bilirubin

Spheocytes

Test to get

  • Name
  • Test
  • Genetics
A

Hereditary spherocytosis

Eosin-5-maleimide binding

AD

238
Q

Erythrocyte CD55 and CD 59 protein testing

A

Paroxysmal nocturnal hemoglobinuria (PNH)

Hemolytic anemia
Cytopenias
Hypercoagulability

239
Q

High fever followed by rash

A

Rosela infantum

HHV-6

<2 y.o

Supportive care

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