Upgrade to remove ads
Only $35.99/year

Peds Syndromes

Terms in this set (40)

Von Gierke Disease
Type I glycogen storage dx (no Glucose-6-phosphatase)
hypoglycemia, ↑liver glycogen, ↑lactate
hepatomegaly
Pompe Disease
Type II glycogen storage dx (no lysosoma alpha 1,4- glucosidase = acid maltase)
Cardiomyopathy ("Pump") --> early death
muscle and liver deposition
Cori Disease
Type III glycogen storage dx (no debranching enzyme = alpha 1,6-glucosidase)
Milder Type I w/ normal lactate and gluconeogenesis
McArdle Disease
Type IV glycogen storage dx (no myophosphorylase)
glycogen deposition in muscle ("My girdle Muscles")
-> muscle cramps, myoglobinuria (red)
-> electrolyte disturbs -> arrhythmias
Fabry Disease
Lysosomal storage dx -> ↑ceramide trihexoside
**F*oam cells/FF*oam cells/*F*ebrile episodes
**A*ngiokeratomas/ *A*lpha-galactosidease AA*ngiokeratomas/ *A*lpha-galactosidease A deficiency
*Burning pain in extremities (peripheral neuropathy)
*Renal failure
*YX genotype - males, XR
**C*ardiovascular dx/ *C*eramide trihexoside accum/ asx CC*ardiovascular dx/ *C*eramide trihexoside accum/ asx Corneal dystrophy
Gaucher Disease
Most common lysosomal storage dx -> ↑glycocerebroside
Txt: Glucocerebrosidase
Gaucher cells - lipid-laden macros w/ tissue paper appearance
Bones: aseptic necrosis of femur, bone crisis, Erlenmeyer flask long bones
HSM, PANcytopenia
CNS involvement (adult type I)
Niemann-Pick Disease
Lysosomal storage dx -> ↑sphingomyelin ("No mann Picks his nose w/ A sPhinger")
Onset 2-6mo, fatal by 3yo
Prog neurodegen (lost milestones, hypotonia, feeding trouble, Areflexia)
"Cherry red" spot on macula
Foam cells - lipid laden macros
HSM
Tay-Sachs Disease
Lysosomal storage dx -> ↑GM2 ganglioside
No HeXosaminidase A ("tay-saX, eXtra refleXes")
Onset 2-6mo
Prog neurodegen (loss of milestones, hypotonia, feeding trouble, HYPERreflexia)
"Cherry red" spot on macula
Lysosomes w/ onion skin
NO HSM
Krabbe Disease
Lysosomal storage dx -> ↑galactocerebroside, psychosine
Dev delay (regression, hypotoia, areflexia)
Periph neuropathy
Optic atrophy
Globoid cells
Metachromatic Leukodystrophy
Lysosomal storage dx -> ↑cerebroside sulfate
No Arylsulfatase A
Demyelination of CNS&PNS
Ataxia
Dementia
Hurler Syndrome
Lysosomal storage dx -> ↑heparan sulfate, dermatan sulfate
No alpha-L-iduronidase (lysosomal hydrolase)
Onset 6mo-2yo
Dev delay
Gargoylism - coarse facies
Airway obstruction
inguinal/umbilical hernias
Corneal clouding
HSM
Hunter Syndrome
Lysosomal storage dx -> ↑heparan sulfate, dermatan
No iduronate sulfatase
mild Hurler Sx + aggression, NO corneal clouding ("Hunters can see so they fight")
McCune-Albright Syndrome
Sporadic defect in G protein cAMP kinase -> autonomous activity
Precocious puberty ("McCutie")
Cafe-au-lait spots (irregular borders "All over")
Bone defects (polyostotic fibrous dysplasia, "CUrvey bones")
Assoc w/ other endocrinopathies (thyroid, PRL, GH, cortisol)
Sturge-Weber Syndrome
*S*poradic/ Stain (portwine) oSporadic/ *S*tain (portwine) on face CNV1/V2
Tram track calcifications (opposing gyri)
Unilateral -> contralateral hemiparesis
Retardation
*G*laucoma/ GNAQGlaucoma/ *G*NAQ gene (chrom 3)
Epilepsy (leptomeningeal andioma)
Von Recklinghausen Disease
aka Neurofibromatosis Type I
AD NF1 on chrom 17 --> neural crest neurofibromas
Sx: "CAFE SPOT"
- Cafe-au-lait spots
- Axillary, inguinal freckling
- *F*ibroma/+FFF*ibroma/+*F*Hx
- Eye: Lisch nodules
- Skeletal: leg bowing
- Pheochromocytoma
- Optic tumor (glioma)
- Tumor suppressor NF1 on Chrom 17 (AD)
Peutz-Jeghers Syndrome
AD
GI polyposis ~> high risk CRC
mucocutaneous hyperpigmentation (lips)
E-secreting tumor ~> precocious puberty
Conn's Syndrome
Aldosterone-secreting adenoma or bilateral adrenal hyperplasia
Sx: hypoK, HTN
Wernicke Korsakoff Syndrome
vitamin B1 (thiamine) deficiency
Sx: confusion, ophthalmoplegia, ataxia
Down Syndrome
Trisomy 21
Upslanting palpebral fissures, Epicanthal folds, Brush field spots (on iris)
Single palmar crease
"Sandal" gap toes
Heart: complete AV canal >VSD>ASD
GI: duodenal atresia, Hirschsprung dx
Neuro: low IQ, early Alzheimer
Heme: ALL
Endo: hypothyroidism, DM1
MSK: atlantoaxial instability
Edward's Syndrome
Trisomy 18
Micrognathia, microcephaly
Rocker bottom feet, overlapping fingers, absent palmar creases
CHD: VSD
mental retardation
Williams' Syndrome
Supravalvular aortic stenosis
DiGeorge Syndrome
defective pharyngeal pouch dev
CATCH-22
*CHD: truncus arteriosus, ToF
*Abnormal facies
*Thymic hypoplasia -> bacterial infections, T cell lymphoma
*Cleft palate
*Hypocalcemia (parathyroid hypoplasia)
*22q11.2
Velocardiofacial Syndrome
...
Hemolytic Uremic Syndrome (HUS)
E coli O157:H7, Shigella --> verotoxin
Onset 1-4yo
Sx: acute abd pain, bloody diarrhea. lethargy, petechiae, jaundice, pallor, oliguria, edema
Labs: uremia, hemolytic anemia, thrombocytopenia, ARF
Txt: supportive, plasmapheresis, dialysis, steroids
Horner Syndrome
ipsilateral miosis, ptosis
seen in Klumpke pals (C8, T1 damage)
Wiskott-Aldrich Syndrome
X-linked
"WATER"
IgA high (-> Strep pneumo, N meningitidies, H flu)
Thrombocytopenia
IgE high
Rash (eczema)
Cri-du-chat Syndrome
deletion of 5p
Sx: cat-like cry, hypotonia, short, microcephaly, protruding metopic suture, moonlike facies, hypertelorism, bilateral epicanthal folds, high palate, wide flat nose, mental retard
Menke's Disease
XR, ATP7A
Sx: kinky hair changes, hypotonia, pallor, loose skin, fractures
Txt: subQ Cu histidinate
Wilson's Disease
ATP7B -> Cu accumulation
Sx: Triad of hepatic changes, neuro sx, Kayser-Fleischer rings
Txt: Penicillamine
Fragile X Syndrome
XD repeat CGG on FMRI gene
large head, long face, prominent forehead/chin, big ears, macroorchidism, hypotonia, lax joints, behavioral disorders
Waardenburg Syndrome
AD, variable penetrance
Sx: lateral displacement of medial canthi, broad nasal bridge, medial hyperplasia of eyebrosw, partial albinism (white forelock), deafness
Rett Syndrome
sporadic mutation in MeCP2
Seen in females ONLY
breath-holding spells, hand-wringing
Lesch-Nyhan Syndrome
XR, HGPT deficiency (purine metab) -> hyperuricemia, gout
Sx: 6mo, hypotonia, persistent vomiting, self mutilation, biting, mental retardation, EPS (choreo, spasticity), dysarthria, dystonia
Txt: hydration, Allopurinol
Kallman Syndrome
anosmia
hypogonadotropic hypogonadism
Beckwith-Weidmann Syndrome
macrosomia, macroglossia
hemihypertrophy
umbilical hernia/omphalocele
Wilms tumor, hepatoblastoma
WAGR:
Wilms tumor
Aniridia
GU anomalies
mental Retard
Fanconi Anemia
AR, XR, 8-16yo
progressive pancytopenia and macrocytosis (aplastic anemia)
Sx: short stature, microcephaly, microphthalmia, strabismus, cafe-au-lait spots, low-set ears, middle ear abnorm (-> pounding), horseshoe kidney, no thumbs
Predisposition for CA.
Dx: chromosomal breaks due to DNA repair defect
Reye Syndrome
after ASA s/p influenza or varicella infection
microvascular fatty infiltration and hepatic mitochondrial dysfunction
Acute liver failure, hepatic encephalopathy
Fetal Hydantoin Syndrome
intrauterine exposure to Phenytoin
dysmorphic facies, hypoplastic fingers/nails, cleft lip/palate, growth deficiency, dev delay, cardiac defects
increased rate of fetal vit K degradation (pregnant women need vit K ppx)
VACTERL:
Vertebral
Anal atresia
Cardiac
TracheoEsophageal fistula
Renal
Limb
Sets with similar terms