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Pediatric Boards > Eponyms > Flashcards

Eponyms Flashcards

1
Q

Shwachman-Diamond Syndrome

A
  • Autosomal recessive
  • Bone marrow failure/aplasia (pancytopenia)
  • Pancreatic insufficiency
  • Bone/skeletal anomalies
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2
Q

Diamond-Blackfan Anemia

A
  • Autosomal recessive
  • Macrocytic aplastic anemia due to pure red cell aplasia (only the red cell line is affected) in an infant
  • Triphalangeal thumbs and craniofacial anomalies
  • Mnemonic: standing fan with three large black fan blades shaped like RBCs
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3
Q

Fanconi Anemia

A
  • Autosomal recessive
  • Macrocytic aplastic anemia in a child > 4yo
  • Multiple anomalies (short stature, CAL spots, renal anomalies, microcephaly, hypogonadism, arm/hand anomalies like absent thumbs)
  • Mnemonic: Ceiling fan with blades made of large cones, which have various body parts in them (hidden gonad, small head, kidney, and a hand)
  • Tx: bone marrow transplant
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4
Q

Holt Oram Syndrome

A

(Autosomal dominant?)

  • Cardiac defects (ASD or VSD)
  • Upper limb defects (absent or hypoplastic radius or thumb, triphalangeal thumb, phocomelia)
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5
Q

Achondroplasia

A

A-kon’s mini me in the AD mneumonic

  • Autosomal dominant (FGFR3 gene) short stature
  • Rhizomelia (short arms/legs), trident-like fingers, genu varum (bowed-legs)
  • Craniofacial deformities (macrocephaly, etc)
  • Sudden death due to compression of cervicomedullary junction
  • Normal IQ but infertility
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6
Q

Williams syndrome

A

-Microdeletion of Chromo 7q11
Elfin facies (smooth philtrum, flat nasal bridge, upturned nose, wide spaced teeth)
Cocktail personality
Hypercalcemia (kidney stones, cramps)
Supravalvular stenosis (and pulm stenosis)
Hypothyroidism

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7
Q

Von Gierke disease

A

Aka Glycogen storage disease type 1
Inability to use glycogen due to inability to convert G6P to glucose
Hypoglycemia during fasting, so might present as morning irritability or in a baby as meals are being spaced out
G6P gets shunted to other reactions so see increased lactate and lipids
Glycogen can build up -> organomegaly
Tx: cornstarch (constant source of glucose)

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8
Q

Pompe disease

A

Glycogen storage disease Type 2
Unable to break down glycogen in lysosomes-> lysosomal storage disorder
Lysosomal acid Maltase deficiency
Cardiomegaly
Mnemonic: pump-e or pompLAy disease (cardiac pump or Lysosomal)

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9
Q

Beckwith-Wiedemann syndrome

A

Macroglossia
Macrosomia - can be hemihypertrophy/hemihyperplasia
Microcephaly
Midline abdominal wall defects
Neonatal hypoglycemia
Increased risk of malignancy (ex Wilms tumor)

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10
Q

Prune belly syndrome

A

Cryptorchidism
Urinary tract abnormalities (can result in oligohydramnios, hydronephrosis, pulm hypoplasia)
Weak abdominal musculature
Poor prognosis

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11
Q

Apert syndrome

A

“A pear” syndrome. Autosomal dominant
Mnemonic: APE-alachian pear shaped mountains in North America (AD mnemonic)
Mnemonic: pear shaped head (craniosynostosis)
Bilateral syndactyly (fused fingers)
Choanal atresia

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12
Q

Alpers syndrome

A

aka Progressive Sclerosing Poliodystrophy

  • The “Swiss Alps are nowhere near the APE-alachian mountains” so Alpers is not part of the AD mnemonic
  • Autosomal recessive
  • Progressive neurodegen w/ dev delay, ataxia, cognitive deficits, and seizures (like being at high altitude in the Swiss Alps)
  • Liver disease
  • Die by 10yo
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13
Q

Alport syndrome

A

“At Al’s Port, X marks the spot, but the blind/deaf boy still crashed his kidney-shaped boat into the dock”
X-linked dominant, affects boys more severely than girls
- Renal disease (hematuria->ESRD)
- Boys: SNHL and Eye/vision problems

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14
Q

Smith-Lemli-Opitz

A

2-3 syndactyly (look like a Y)
Ambiguous genitalia, microcephaly, cognitive impairment
Dx: elevated 7-dehydrocholesterol

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15
Q

Crouzon syndrome

A

aka Craniofacial dysostosis
Craniosynostosis (early suture closure) with prominent forehead, proptosis, cleft lip/palate
NO syndactyly

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16
Q

Autosomal Dominant Disorder Mnemonic

A

Three white-haired War (Waardenburg) generals - Mick Jagger (Peutz-Jegher), A-kon’s mini-me (Achondroplasia), and a Mexican Gardener with extra teeth (Gardner)
go Hunting (Huntington)
without a real Hunter (Hunter syndrome is X-linked)
in the Ape-alachian Pear-shaped mountains (Apert)
chanting a MANNTRRA: Marfan, Apert, Nail-patella, Noonan, Tuberous sclerosis, Retinoblastoma, Achondroplasia

Others: Acute intermittent porphyria, HOCM, vWF deficiency, myotonic dystrophy, CMT-1

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17
Q

Waardenburg syndrome

A 
Autosomal dominant (WAR in the mnemonic)
White forelock
Albinism
Blue eyes (ocular albinism) or heterochromia
Deafness
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18
Q

Nail Patella Syndrome

A

Autosomal dominant (one of the N’s in MANNTRA mnemonic)
Mild-severe nail and patellar anomalies
+/- elbow or iliac anomalies

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19
Q

Noonan syndrome

A

Autosomal dominant (one of the N’s in MANNTRA mnemonic)

  • Webbed neck, low set ears (similar to Turner syndrome but with normal karyotype)
  • Pulmonic stenosis (pulNOONic), HOCM
  • Pectus excavatum
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20
Q

Peutz-Jeghers syndrome

A

aka Hereditary Intestinal Polyposis
Autosomal dominant: “Mick Jagger” in the AD mnemonic
Benign hyperpigmented macules on the “big” lips
Hamartomatous GI polyps - tx: resection
Increased risk of various cancers

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21
Q

Gardner syndrome

A 
Autosomal dominant: "Mexican gardener with extra teeth" in the AD mnemonic
Premalignant polyps in the intestines - tx: resection
Supernumerary teeth
Other tumors (bone, etc)
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22
Q

Retinoblastoma

A 
Autosomal dominant (but often sporadic), chromosome 13
Leukocoria
Osteosarcoma of long bones
23
Q

Retinitis pigmentosa

A

Multiple inheritance patterns (AD, AR, X)

Retinal dystrophy that leads to blindness

24
Q

IEMs that are X-linked

A
  • Hunters (“X marks the target” and in the AD mnemonic, the generals do not have any REAL Hunters in their group)
  • Ornithine Transcarbamylase deficiency (OTC)
25
Q

Autosomal recessive disorder mnemonic

A 
WACK GAS PAT made me HURL on Scarlet JOHANSSON in the AUTOmobile during the last RECESSION
W=Wilsons
A= alpha-1-antitrypsin deficiency
C=Cystic fibrosis
K=Kartagener syndrome
G=Galactosemia 
A=Alpers ("Swiss Alps")
S=Sickle cell disease and Thalassemias
P=PKU
A=Ataxia telagietctasia
T=Tay-sachs
HURL=Hurler
Scarlet JOHANSSON=Johanson-Blizzard syndrome

Other important ones: SMA Type 1,

26
Q

Cystic fibrosis
Kartagener syndrome
alpha-1-antitrypsin deficiency

A

All are autosomal recessive. Some special features:

CF: meconium ileus. Sweat chloride >60. Burkholderia cepacia in sputum culture. All serum electrolytes are low except Bicarb-> metab alkalosis.

Kartagener: dextrocardia. Impaired cilia

alpha-1-antitrypsin deficiency: adolescent with lung and liver disease. Bullae at the base of the lungs. Ascites. Liver biopsy shows globules.

27
Q

Johanson-Blizzard syndrome

A

Autosomal recessive
Pancreatic insufficiency
Hypoplasia/aplasia of the nostrils (blizzards cause nasal stuffiness)
Mental retardation

28
Q

X-linked dominant disorders

A

100% of father’s daughters and ZERO sons are affected.
Can see maternal uncles affected
-Familial hypophosphatemic rickets (aka Vit D resistant rickets)
-Aicardi syndrome
-Alport syndrome

29
Q

X-linked recessive disorders

A

Females are carriers. Males are affected.
Maternal uncles affected.
- Androgen insensitivity syndrome (pt is a “girl”)
- Chronic granulomatous disease (boy with Serratia)
- Duchenne
- G6PD deficiency
- Hemophilia A (Factor VIII deficiency, increased PTT)
- Hemophilia B (Factor IX deficiency, increased PTT)
- Hunter syndrome (X marks the target)
- Nephrogenic Diabetes Insipidus (Foxa1 deficiency)
- OTC deficiency
- Wiskott-Aldrich syndrome (TIE=tiny thrombocytopenia, Infections, Eczema)

30
Q

Fragile X syndrome

A

Most common cause of INHERITED mental retardation
TRINUCLEOTIDE REPEAT DISORDER!!!
Large ears/jaw/testes. Long face
Mild mental retardation, social ackwardness

31
Q

Trisomy 21 (Down syndrome)

A

Most common cause of mental retardation

  • 95% due to nondisjunction (i.e. not translocation). Recurrence risk is mom’s age-risk plus 1%
  • 5% due to translocation, check parental karyotypes to determine recurrence risk (21:21=100% risk, 21:14=5-15%)
32
Q

Trisomy 18 (Edwards syndrome)

A
  • Rocker bottom feet and crossed legs
  • Horseshoe kidneys
  • Clenched fists with overlapping fingers and hypo plastic nails
  • Small jaw, prominent occiput
  • Pectus excavatum
  • ASD, VSD
33
Q

Trisomy 13 (Patau syndrome)

A
  • Punched out scalp lesions (Jason from Friday the 13th wore a hockey mask with punched out holes)
  • Microcephaly
  • Microphthalmia
  • Cleft lip/palate
  • Low set ears
  • Polydactyly
  • Cystic kidneys
  • Cardiac defects
34
Q

Cri-du-chat

A 
5p deletion syndrome
-High pitched "cat-like" cry
-Microcephaly, dev delay
-Hypertelorism
-High palate
-VSD
Dx:  FISH
35
Q

Angelman syndrome

A

Absent maternal copy of chromo 15 gene = PATERNAL IMPRINTING. Dx: FISH

  • Angelic happy child with puppet gait=ataxia (“Daddy’s little angel”)
  • Seizures
36
Q

Prader-Willi syndrome

A

Absent paternal copy of chromo 15 gene = MATERNAL imprinting. Dx: FISH

  • Almond shaped eyes
  • Small hands
  • Small testes/phallus (“little willy”)
  • Obese (“Mommy’s little fatty”)
37
Q

Laurence Moon Biedl syndrome

A

Progressive Prader-Willi-like syndrome
Affects eyes, brain, endocrine system,
Hypospadias (L of SLOB) and hypogonadism

38
Q

Klippel-Trenauny syndrome

A

“Cripple-T” - the T looks like a crutch, which the patient needs because of the hemihypertrophy

  • AV fistulae->overgrowth of limb (hemihypertrophy)
  • Port wine stain
  • CHF
39
Q

Klippel-Feil syndrome

A

Torticollis-like picture due to fused cervical vertebrae

40
Q

CHARGE syndrome

A 
C=Coloboma
H=Heart defects
A=Atresia (choanal)
R=Retarded growth
G=GU anom
E=Ear anom (leading cause of congenital deaf-blindness)
41
Q

VACTER/VATER/VACTER-L

A 
V=Vertebral anomalies
A=anal atresia (aka imperforate anus)
C=Cardiac defects.  Ex. VSD
TE=TE fistula
R=Renal anomalies
L=Limb abnormalities (ex. radial hypoplasia)

Normal IQ
If hydrocephalus, too-> likely X-lined

42
Q

Marfan syndrome

A 
Autosomal dominant (M of MANNTRA)
Superior subluxation of the lens
Mitral valve prolapse
High-arched palate
No cognitive deficits
43
Q

Homocysteinuria

A

Can look like Marfan syndrome plus cognitive deficits
Downward/posterior displacement of the lens
Hypercoagulable (DVT)
Dx: High urine homocysteine
Tx: B6, diet high in cysteine and low in methionine

44
Q

Russell-Silver syndrome (aka Silver-Russell syndrome)

A 
Dwarfism
Clinodactyly
Small chin/triangular face
Hypospadias (S of SLOB)
Hemihypertrophy
45
Q

Fanconi syndrome

A

Overall dysfunction of proximal renal tubules.

  • loss of protein, amino acids, glucose, Na, K, bicarb, and phos in urine
  • RTA Type II (non AG metabolic acidosis)
  • polyuria, polydipsia, FTT, Rickets
  • Cause: varies, often due to cystinosis (dx by leukocyte cystine level)
46
Q

PHACES syndrome

A 
P = Posterior fossa malformation (Dandy Walker)
H = Hemangioma (segmental on the face; strokes)
A = Arterial cerebrovascular anomaly
C = Cardiac anomalies (especially coarctation of the aorta)
E = Eye anomalies (microphthalmia, strabismus)
S = Sternal defect
47
Q

Congenital melanocytic nevi syndrome

A

Assoc with Dandy Walker formation

48
Q

Ataxia telangiectasia

A

Autosomal recessive (the A of PAT in the AR mnemonic) due to impaired DNA repair (ATM gene)

  • High AFP levels (after ~2yo), low Ig
  • Cerebellar ataxia manifests around walking age
  • Then visual and motor deficits, telangiectasias, immune deficiency, cognitive deficits
  • Immune: Recurrent pneumonias and sinusitis due to worsening T cell function and decreased Ig
  • Increased risk of malignancy in third decade of life
49
Q

Friedreich Ataxia

A

Autosomal recessive, GAA triplet repeat in the mitochondrial protein frataxin
Causes destruction of dentate nucleus and dorsal root ganglia -> degeneration of dorsal columns/proprioception, spinocerebellar tracts, and peripheral nerves. Corticospinal tracts are also affected.
-Ataxia manifests around time of puberty
-Assoc with diabetes mellitus, CHF from cardiomyopathy, and high planter arches (pes cavus)

50
Q

Tay-Sach disease

A 
Autosomal recessive
hexosaminidase A deficiency (sphingolipidosis, lysosomal storage disease)
Cherry red spot but no organomegaly
Macrocephaly.
Normal until 9 months.  Die by age 4y.
51
Q

Gaucher disease

A

Sphingolipidosis, lysosomal storage disease
“Groucher’s disease” - grouchy from bone pain
Hepatomegaly but no cherry red spot
Thrombocytopenia
Osteosclerosis and lytic lesions with bone pain
Short stature

52
Q

Fabry disease

A 
Sphingolipidosis, lysosomal storage disease
No organomegaly, no cherry red spot
Eye opacities
Vascular disease of kidney, heart, brain
ORANGE-colored skin lesions
53
Q

Niemann-Pick disease

A

Sphingomyelinase deficiency (sphingolipidosis, lysosomal storage disease)

  • Cherry red spot AND organomegaly (HSM)
  • Sphingomyelin accumulates in macrophages of the liver and lungs
  • Neurologic problems

Pediatric Boards (9 decks)

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