Flashcards in PED Deck (60):
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.
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.
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.
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.
2. Adrenal insufficiency.
==> AR — 1978, a/w mutation in gene encoding ALADIN.
In congenital hip dislocation:
==> Difference in knee height when child is supine w/ knees flexed and feet are flat on exam.
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.
Type IV GSD (amylopectinosis).
==> Branching enzyme def.
==> Cirrhosis + HSM + FTT in the first 18mo of life.
“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.
==> Characterized by midface hypoplasia +
Humeroradial synostosis +
Bowing of femora +
==> Inactivating mutations in FGFR2.
***occasionally a/w ambiguous genitalia.
(Apert syndrome also a/w FGFR2)
AD — FGFR2 mutation:
Midfacial malformations +
Symmetric bony syndactyly of hands and feet +
Variable mental retardation.
==> Missense mutation of FGFR2.
The further a chronically recurrent abdominal pain is from the umbilicus, the greater the likelihood of an organic cause of the pain.
2. Multiple lipomas.
4. Speckled penis (!).
==> A/w germ line PTEN mutations.
(Also known as Bannayan-Ruvalcaba-Riley syndrome)
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.
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.
Infantile X-linked DCM +
Short stature +
==> Mutation in G4.5 which encodes for TAFAZZIN (a putative acyl transferase that has been a/w altered metabolism of the mitochondrial phospholipid cardiolipin).
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.
A/w neonatal hypoglycemia.
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.
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).
==> Aqueductal stenosis + mental deficiency + flexion deformities + spasticity of the extremities.
==> MC inherited hydrocephalus.
Xq28 — L1CAM mutation.
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).
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.
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.
In children with progressive hydrocephalus, rapid, rhythmic bobbing of the head.
Congenital diaphragmatic hernia, through the POSTERIOR diaphragm, usually on the LEFT.
Compare to Morgagni’s hernia.
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.
Right middle lobe atelectasis.
==> More common in children with history of asthma or atopy.
Tool for estimating weight and endotracheal tube size in pediatric population.
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.
Skeletal disorder resembling osteogenesis imperfecta w/ severe bone fragility and deformity.
A/w congenital joint contractures.
==> Deficiency in telopeptide lysyl hydroxylase.
In Down syndrome ==> Small white spots on the periphery of the iris.
Progressive familial INTRAHEPATIC CHOLESTASIS.
==> Impaired biliary secretion of both bile acids + phosphatidylcholine ==> Leads to death from liver failure before adolescence.
==> Mutation in ATP8B1 (AR).
LAN + autoimmunity + HSM + Hemolytic anemia + thrombocytopenia.
AR infantile spongy degeneration of the brain w/ Alzheimer type II cells.
==> Increased prevalence among Ashkenazi.
==> Aspartoacylase mutations ==> N-acetylaspartic acid accumulation (1931).
Pentalogy of Cantrell:
Diaphragmatic defect (hernia) — cardiac abnl — omphalocele — pericardium malformation/absence — sternal cleft.
Unusual facial features including long philtrum — down-slanting palpebral fissures — thick lips.
+ PDA + abnl 5th digits.
MUTATION IN TFAP2B.
2. Heart mal.
3. Atresia choanae.
4. Retarded growth and development +/- CNS anomalies.
5. Genital hypoplasia.
6. Ear anomalies +/- deafness.
In congenital syphilis, symmetrical arthrosis, especially of the knee joints.
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.
A form of progeria characterized by
-pigmentary degeneration of the retina,
-sensitivity to sunlight.
AR defect in DNA repair.
A/w severe bone fragility and deformity.
X-dominant variant of Conradi-Hunermann syndrome of chondrodysplasia punctata.
Mutation in delta8-delta7 sterol isomerase emopamil binding protein (cholesterol metabolism).
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.
Cornelia de Lange syndrome:
Complex developmental disorder consisting of characteristic facial features,
-upper limb abnl.
-growth and developmental retardation.
***Mutation in NIPBL — encodes a member of the cohesin complex.
Syndrome of prenatally increased growth,
-postnatal growth retardation.
-loose skin resembling cutis laxa.
-OUTGOING, FRIENDLY BEHAVIOR.
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.
Craniosynostosis correlated in mutations with the extracellular domain of FGFR2.
Childhood familial idiopathic osteoarthropathy.
**mutation in HLXB9.
Partial sacral agenesis with intact first sacral vertebra resembling a sickle.
==> A presacral mass, and anorectal malformation.
A/w a homeobox gene — HLXB9.
Rare, low-grade angiosarcoma that affects skin of children.
==> Endovascular papillary angioendothelioma.
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.
Empty RLQ in children with ileocecal intussusception.
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.
Benign and congenital nodule, located near the superior aspect of the auricle.
***approx 2/3 of the way from the bottom of the helix.
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.
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.