DPT 540- PEDIATRIC PATHOLOGY EXAM QUESTIONS AND ANSWERS WITH COMPLETE SOLUTIONS GRADED A++

DPT 540- PEDIATRIC PATHOLOGY EXAM QUESTIONS AND ANSWERS WITH COMPLETE SOLUTIONS GRADED A++ Down syndrome incidence: 1 in 700 babies born etiology: trisomy 21 life expectancy: over 60 years down syndrome clinical findings lack of motor reflex hypotonia joint hyerextendability atlantoaxial instability intellectual disability *** floppy and don't have reflex trisomy 21 variations trisomy 21, translocation, mosaicism trisomy 21 all cells have 47 chromosome most common type of variant and most severe translocation the third 21st chromosome is attached to another site - rare, less severe mosaicism some cells have 46 chromosomes, some have 47 - most rare, mild physical characteristics of down syndrome flattened nasal bridge, amond shaped eyes, single trasnverse crease in palm, short limbs, short/broad hands and feet, protruding tongue medical intervention for down syndrome surgical repair of cardiac conditions, glasses, hearing aids, ear tubes, G tube, soft collar for AA instability neural tube defects incidence: up to 5 in 1,000 births life expectancy: 85-90% survive into adulthood etiology: - genetic predisposition - teratogenic exposure - folic acid deficency - most common at L5-S1 spinabifida occulta incomplete fusion of the posterior vertebral arch often accompanied by a depression in the skin, tuft of dark hair, fatty depositis, dark birth mark at the level of the underlying lesion spinabifida meningocele external protrusion of the meninges, rarely causes neurological deficits spinabifida myelomeningocele - external protrusion of sac-like cyst with meninges and spinal cord - permanent neurologic impairment depending on level of involvement - flaccid or spastic paralysis - incontinence - musculoskeletal deformities - hydrocepalus arnold chiari malformation neural tube defect causing large ventricles, hydrocephalus - the brainstem, fourth ventricle, part of cerebellum and or cerebral tonsils are displaced downward through foramen magnum, leading to blockage of CSF flow ** can cause compression of spinal cord syngomyelia neural tube defecting causing a cavity within the spinal cord or medulla, causing sensory changes - aka tethered cord-- incontinence, progressive weakness, back pain neural tube defect diagnosis