Path peds

25q11 mutation. bilateral dislocation/subluxation of lens, dissecting aorta, valve defects, aneurysm

Deficiency in lysyl hydroxylase --> decr hydroxylation of lysyl residues in collagen I & III. Autosomal recessive. Poor wound healing, hypermobile joints, ocular fragility

Deficient synthesis of type III collagen: weakness in bowel wall and blood vessels. Autosomal dominant. Mutations in COL3A1 gene. Poor wound healing, hypermobile joints, ocular fragility

Autosomal dominant dz are normally...

Hypercholesterolemia most common type

PKU (autosomal recessive) symptoms & cause

deficiency of acid sphingomyelinase --> accumulation of sphingomyelin

mutations in gene that encodes glucosylceramidase. Accumulation of glucosylceramide (byproduct of RBC breakdown). Bone involvement, hepatosplenomegaly, may or may not have CNS involvement, autosomal recessive

Epicanthic fold, flat facial profile, mental retardation. Semian crease.

Chromosome 22q11.2 deletion dz

Defect in FMR1 gene.

Fragile X premutation

Coaractation of aorta (bicuspid aortic valve defect) most commonly associated w/

mental retardation. long face, large mandible, large everted ears, large testicles. Hypermethylation that leads to silencing of gene involved.

Mitochondrial mutations. progressive bilateral loss of central vision that leads to blindness

15q11-13 or 15q12

mental retardation, short stature, hypotonia, obesity, small hands & feet, hypogonadism, prominent nasal bridge, almond shaped eyes w/ down turned lips, light skin & hair, soft skin

tumor of sympathetic ganglia & adrenal medulla. pseudorosettes (no cavity surrounded by tumor cells). Spontaneous regression

Deletions or mutation of the q14 band of chromosome 13 or sporadic. No red reflex (cat's eye reflex). Rosettes. Spontaneous regression.

most common primary tumor of kidney in children. Mutations at 11p13. p53 mutations. WAGR syndrome.

WAGR syndrome

Beckwith-Wiedemann syndrome :enlargemt of body organs or entire body segments (hemihypertrophy); enlargemt of adrenal cortical cells

Adult brain tumors tend to be supra-tentorium, Pediatric brain tumors tend to be infra-tentorium. most common malignant brain tumor in children

increased intracranial pressure. child becomes listless, w/ vomiting & morning headache. stumbling gait, frequent falls, diplopia, papilledema, & 6th cranial nerve palsy. Positional dizziness and nystagmus are also frequent

Tumor in brain, rarely in spinal cord. Most common glioma.

5p deletion syndrome.

low birth weight, microcephaly, cat like cry, micrognathia/retrognathia, short hands & feet, simian crease, mentalretardation,
spastic quadriparesis, small external genitalia. two eyes should be one eye-width apart. If it is more than that, it is hypertelorism

Low birth weight and growth retardation. Microcephaly and mental retardation. Congenital heart disease. Craniofacial dysmorphy

Not all premutations are predisposed to expand. Usually from maternal transmission (esp in juvenile form). Paternal premutations usually shorten
during transmission

Juvenile form associated with paternal transmission. Symptomatic w/ over 40 repeats.

Dominant-negative effect = gene product (protein) that can interfere with the function of the normal gene product in heterozygotes. Blue sclera

Vitamin B2 deficiency leads to

Potato blight ingestion during pregnancy may lead to

Pickwickian Syndrome

autosomal recessive defect in transport protein responsible for hepatocellular excretion of bilirubin glucoronides.

Physiologic jaundice

Kernicterus: bilirubin levels of trigger

Ranking in cardiac malformations

Prevalence in Iranian & Mococan jews. Black liver

Reye syndrome

ASD associated w/

Defects in which pulmonary vascular disease causes R to L shunt of blood. Initially caused by L to R shunt. Pulmonary vascular markings on X ray, thickening of pulmonary artery, pulmonary hypertension, cardiomegaly

R to L shunt due to a large VSD

Machine like murmur. large defects eventually leads to Eisenmenger syndrome w/ cyanosis & CHF. Pulmonary hypertension, R heart hypertrophy & dilation, atherosclerosis of pulmonary arteries

Cardiac defect associated w/ trisomy 13 & 18

Congenital rubella can lead to

Eisenmenger complex can be caused by

Tetralogy of Fallot includes

clubbing of fingertips are associated w/

Boot-shaped heart, proximal aorta larger than normal, diminished pulmonary trunk. May be accompanied by PDA & ASD (beneficial cuz they permit pulmonary blood flow)

Endocardial fibroelastosis (usually L ventricle) can be associated w/

Downward displacement of tricuspid valve into an underdeveloped right ventricle

Need PDA & PFO to retain life

Abnormality in septation of truncus arteriosus. Associated with maternal diabetes

R ventricle & pulmonary artery hypertrophied & dilated --> hypotension (weak femoral pulses, BP of lower extremities lower than of upper extremities)

L ventricle hypertrophied --> hypertension, claudication and coldness of lower extremities

most common form of congenital aortic stenosis

Why hypertension in upper extremities of those w/ coarctation of aorta?