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Flashcards in PED Deck (60):
1

Abernethy malformation:

Congenital anomaly of the splanchnic vasculature.

==> Defects in vitelline vein formation.

Type 1 ==> Portal vein completely diverted into IVC and complete absence of formation of intrahepatic portal vein.


Type 2 ==> Portal venous system is formed, but there is an abnl communication w/ systemic veins, usually IVC.


***a/w hepatic encephalopathy + hepatopulmonary syndrome.

==> Moore common in DOGS — Particularly Yorkshire terriers.

2

Aicardi syndrome:

Partial or complete agenesis of CORPUS CALLOSUM +

Infantile spasms +
mental retardation +
lacunae of the retina.

ONLY IN FEMALES.

(Likely X-linked dominant)

Described in 1965.

3

Alagille syndrome:

Inherited CHOLESTATIC syndrome.

A/w biliary HYPOPLASIA (ductopenia) +

Vertebral anomalies +
Prominent forehead +
Deep-set eyes +
Peripheral pulmonic stenosis.

(AD — a/w mutation in JAG1 or NOTCH2.

4

Alexander disease:

Leukodystrophy-like neurodegenerative disease presenting in infancy or childhood.

==> Characterized by Rosenthal fibers.

==> Presents w/ MEGALENCEPHALY followed by progressive spasticity and dementia.

MUTATION IN GFAP.

5

Allgrove syndrome:

Triad of:

1. Achalasia.
2. Adrenal insufficiency.
3. Alacrima.

==> AR — 1978, a/w mutation in gene encoding ALADIN.

6

Allis sign:

In congenital hip dislocation:

==> Difference in knee height when child is supine w/ knees flexed and feet are flat on exam.

7

Alstrom’s syndrome:

AR:

1. Obesity.
2. Childhood blindness due to retinal degeneration.
3. Nerve deafness.
4. ADH-resistant DI.

==> In MALES ==> Hypogonadism with high plasma gonadotropin levels (end-organ resistance to hormones).

+ baldness + hyperuricemia + hypertriglyceridemia + aminoaciduria.

8

Andersen disease:

Type IV GSD (amylopectinosis).

==> Branching enzyme def.

==> Cirrhosis + HSM + FTT in the first 18mo of life.

9

Angelman syndrome:

“Happy puppet” syndrome:

==> Severe developmental delay + frequent laughing + easily excitable personality.

==> Maternal deletion of 15q11-13.

A/w mutation in maternally-imprinted ATP10C ==> a putative aminophospholipid TRANSLOCASE.

10

Antley-Bixler syndrome:

Trapezoidocephaly—synostosis syndrome.

==> Characterized by midface hypoplasia +

Humeroradial synostosis +
Bowing of femora +
Fractures.

==> Inactivating mutations in FGFR2.

***occasionally a/w ambiguous genitalia.

(Apert syndrome also a/w FGFR2)

11

Apert syndrome:

AD — FGFR2 mutation:

Craniosynostosis +
Midfacial malformations +
Symmetric bony syndactyly of hands and feet +
Variable mental retardation.

==> Missense mutation of FGFR2.

12

Apley’s law:

The further a chronically recurrent abdominal pain is from the umbilicus, the greater the likelihood of an organic cause of the pain.

13

Bannayan-Zonana syndrome:

Hamartoma syndrome:

1. Macrocephaly.
2. Multiple lipomas.
3. Hemangiomas.
4. Speckled penis (!).

==> A/w germ line PTEN mutations.

(Also known as Bannayan-Ruvalcaba-Riley syndrome)

14

Barlow’s maneuver:

For congenital hip dislocation:

Pt placed in supine position and attempt made to push femurs posteriorly w/ knees at 90o/ hip flexed and hip will dislocate.

15

Barraquer-Simons syndrome:

Acquired partial lipodystrophy:

Presents usually around 8-10 — preceded usually by acute viral infection.
==> Spares legs and hips.

==> 1/3 develops MPGN.

==> A/w accelerated complement activation and C3 nephritic factor ==> Hypothesized to cause lysis of adipose tissue.

16

Barth’s syndrome:

Infantile X-linked DCM +

Short stature +
Myopathy +
Cyclic neutropenia.

==> Mutation in G4.5 which encodes for TAFAZZIN (a putative acyl transferase that has been a/w altered metabolism of the mitochondrial phospholipid cardiolipin).

17

Bassen-Kornzweig syndrome:

Congenital abetalipoproteinemia.

18

Batten’s disease:

Neuronal ceroid lipofuscinosis — Type 3, juvenile form.

==> A group of conditions characterized by mental impairment + worsening seizures + progressive loss of sight and motor skills related to buildup of lipopigments.

19

Beckwith-Wiedemann syndrome:

1. Exomphalos.

2. Macroglossia.

3. Gigantism.

A/w neonatal hypoglycemia.

20

Berardinelli-Seip syndrome:

Congenital generalized lipodystrophy.

==> Apparent at birth — Infants look VERY MUSCULAR due to absence of fat.

==> A/w diabetes, hepatomegaly, acanthosis nigricans, enlarged external genitalia, + increased rate of skeletal growth.

21

Best disease:

Vitelliform macular dystrophy type 2 (VMD2):

==> Gradual loss of visual acuity starting in their teenage years.

==> Accumulation of lipofuscin in retinal pigment epithelium.

==> Markedly abnormal electro-oculogram (EOG) in all stages of progression and in phenotypically normal carriers.

AD — VMD2 gene mutation (1905 first description).

22

Bickers—Adams syndrome:

Sex-linked hydrocephalus.

==> Aqueductal stenosis + mental deficiency + flexion deformities + spasticity of the extremities.

==> MC inherited hydrocephalus.

Xq28 — L1CAM mutation.

23

Blalock-Taussig shunt:

For palliation + Tx of severely CHD such as TOF or PV atresia.

==> Direct end-to-side subclavian artery to pulmonary artery anastomosis on side opposite to arch of aorta (classic).

==> Alternatively graft placed between subclavian artery + pulmonary artery (modified).

24

Blomstrand dysplasia:

Rare lethal disorder characterized by an increase in bone density + advanced skeletal maturation from INACTIVATING mutation in PTHR-1 gene.

Seen also Jansen metaphyseal chondrodysplasia where there is an ACTIVATING mutation.

25

Bloom’s syndrome:

Severe immunodeficiency +

Growth retardation +

Predisposition to several types of cancers a/w hypersens to a variety of DNA-damaging agents.

==> A/w mutation in DNA helicase RecQ protein-like-3.

26

Bobble-head syndrome:

In children with progressive hydrocephalus, rapid, rhythmic bobbing of the head.

27

Bochdalek hernia:

Congenital diaphragmatic hernia, through the POSTERIOR diaphragm, usually on the LEFT.

Compare to Morgagni’s hernia.

28

Bombay phenotype:

Blood type O when A or B blood type expected.

==> These individuals are recessive for H allele and do not make H antigen.

==> H antigen required as precursor for A or B antigen to be expressed.

***First described in Bombay — explains a child with O blood type when parent is eg AB blood type.

==> RARE — More common in consanguineous matings.

29

Bourneville’s disease:

Tuberous sclerosis.

30

Brock’s syndrome:

Right middle lobe atelectasis.

==> More common in children with history of asthma or atopy.

31

Broselow tape:

Tool for estimating weight and endotracheal tube size in pediatric population.

32

Brown’s syndrome:

In RA ==> Vertical diplopia + clicking sensation when looking up and medially +

An apparent inferior oblique palsy ==> apparently from stenosing tenosynovitis of the superior oblique tendon and sheath.

***also congenital form.

33

Bruck syndrome:

Skeletal disorder resembling osteogenesis imperfecta w/ severe bone fragility and deformity.

A/w congenital joint contractures.

==> Deficiency in telopeptide lysyl hydroxylase.

34

Brushfield’s spots:

In Down syndrome ==> Small white spots on the periphery of the iris.

35

Byler’s disease:

Progressive familial INTRAHEPATIC CHOLESTASIS.

==> Impaired biliary secretion of both bile acids + phosphatidylcholine ==> Leads to death from liver failure before adolescence.

==> Mutation in ATP8B1 (AR).

36

Canale-Smith syndrome:

(1967):

LAN + autoimmunity + HSM + Hemolytic anemia + thrombocytopenia.

FAS mutations.

37

Canavan disease:

AR infantile spongy degeneration of the brain w/ Alzheimer type II cells.

==> Increased prevalence among Ashkenazi.

==> Aspartoacylase mutations ==> N-acetylaspartic acid accumulation (1931).

38

Pentalogy of Cantrell:

RARE:

Diaphragmatic defect (hernia) — cardiac abnl — omphalocele — pericardium malformation/absence — sternal cleft.

X-dominant.

39

Char syndrome:

Heart-hand syndrome:

Unusual facial features including long philtrum — down-slanting palpebral fissures — thick lips.

+ PDA + abnl 5th digits.

MUTATION IN TFAP2B.

40

CHARGE association:

1. Coloboma.

2. Heart mal.

3. Atresia choanae.

4. Retarded growth and development +/- CNS anomalies.

5. Genital hypoplasia.

6. Ear anomalies +/- deafness.

41

Clutton’s joints:

In congenital syphilis, symmetrical arthrosis, especially of the knee joints.

42

Coats’s disease:

Rare eye disorder also known a RETINAL TELANGIECTASIS, arising from defect in retinal vascular development.

==> Leading to full or partial unilateral blindness.

==> Males in the 1st decade.

43

Cockayne’s syndrome:

A form of progeria characterized by
-dwarfism,
-pigmentary degeneration of the retina,
-optic atrophy,
-deafness,
-sensitivity to sunlight.
-mental retardation,

AR defect in DNA repair.

44

Cole-Carpenter syndrome:

Craniosynostosis

Ocular proptosis

A/w severe bone fragility and deformity.

45

Conradi-Hunermann-Happle syndrome:

X-dominant variant of Conradi-Hunermann syndrome of chondrodysplasia punctata.

A/w:

Mutation in delta8-delta7 sterol isomerase emopamil binding protein (cholesterol metabolism).

46

Cori’s disease:

GSD III.

Def in debranching enzyme — amylo-1,6-glucosidase.

==> Variable accumulation of glycogen in the liver, heart, or skeletal muscle.

==> Stunted growth, hepatomegaly, and hypoglycemia.

***also known as Forbes disease.

47

Cornelia de Lange syndrome:

Complex developmental disorder consisting of characteristic facial features,

-upper limb abnl.
-hirsutism.
-ophthalmologic involvement.
-gastroesophageal dysfunction.
-hearing loss.
-growth and developmental retardation.

***Mutation in NIPBL — encodes a member of the cohesin complex.

48

Costello’s syndrome:

Syndrome of prenatally increased growth,

-postnatal growth retardation.
-coarse face.
-loose skin resembling cutis laxa.
-nonprogressive cardiomyopathy.
-developmental delay.
-OUTGOING, FRIENDLY BEHAVIOR.

***HRAS mutation.

49

Cowden disease:

AD a/w multiple hamartomatous lesions — especially of the skin, mucous membranes, GI, breast, thyroid.

A/w trichilemmomas (multiple skin-colored warty papules).

***Mutations in PTEN/MMAC1.

50

Crouzon syndrome:

Craniosynostosis correlated in mutations with the extracellular domain of FGFR2.

51

Currarino syndrome:

Childhood familial idiopathic osteoarthropathy.

**mutation in HLXB9.

52

Currarino triad:

Partial sacral agenesis with intact first sacral vertebra resembling a sickle.

==> A presacral mass, and anorectal malformation.

A/w a homeobox gene — HLXB9.

53

Dabska tumor:

Rare, low-grade angiosarcoma that affects skin of children.

==> Endovascular papillary angioendothelioma.

54

Damus-Kaye-Stansel procedure:

Repair of congenital transposition of the great arteries of the heart by dividing the pulmonary artery and attaching the proximal section to the ascending aorta + connecting distal section to RV.

55

Dance’s sign:

Empty RLQ in children with ileocecal intussusception.

56

Dandy-Walker syndrome:

Hydrocephalus resulting from failure of the foramina Luschka and Magendie to open.

A/w an occipital meningocele and agenesis of the cer vermis and splenium of the corpus callosum.

==> a/w WARFARIN use during pregnancy.

57

Darwin’s tubercle:

Benign and congenital nodule, located near the superior aspect of the auricle.

***approx 2/3 of the way from the bottom of the helix.

58

De Morsier syndrome:

Septo-optic dysplasia — Combination of optic nerve hypoplasia

+ pituitary hypoplasia
+ midline abnormalities of the brain ==> absence of the corpus callosum + septum pellucidum.

A/w mutation in HESX1.

59

Dejerine—Sottas disease:

Hereditary motor and sensory neuropathy III (AR).

Slowly progressive demyelinating disorder — presents in infancy or childhood and progresses to cause severe disability by 30s.

***nerves typically enlarged.

60

Dent’s disease:

X-linked:

Renal proximal tubular dysfunction

+ proteinuria
+ hypercalciuria
+ nephrocalcinosis
+ nephrolithiasis
+ rickets due to mutation in voltage-gated Cl channel.