Chapter 2: Developmental, Congenital, and Childhood Diseases and Disorders: Diagnosis Flashcards
What is the diagnosis of Preterm Birth or Prematurity
Neonates small for gestation age; low weight infants (may or may not)
What is the diagnosis of Infant Respiratory Distress Syndrome
increase respiratory efforts and history of prematurity; radiograph shows infiltrate or hyaline membrane
What is the diagnosis of Bronchopulmonary Dysplasia
radiograph shows abnormal alveolar damage, “ground glass”; ABG’s
What is the diagnosis of Retinopathy of Prematurity
ophthalmoscope to visualize retina
What is the diagnosis of Necrotizing Enterocolitis
CBC and elevated WBC count; guaiac test positive
What is the diagnosis of Robinow Syndrome
genetic study showing chromosome defect; observation of small stature
What is the diagnosis of Hypertrophic Cardiomyopathy
young people who have collapsed during exercise; family history of cardiac arrest; ECG/MRI
What is the diagnosis of Down Syndrome
identified at or before birth; mild forms diagnosed later; karyotype showing chromosomal abnormality
What is the diagnosis of Cerebral Palsy
clinical picture and neurologic examination
What is the diagnosis of Muscular Dystrophy
muscle biopsy and electromyography; elevated serum creatine kinase
What is the diagnosis of Spina Bifida Occulta
blood levels of AFP; prenatal ultrasonography or postnatal examination
What is the diagnosis of Meningocele
visual examination of spinal area and presence of a sac; radiographs confirm
What is the diagnosis of Myelomeningocele
physical examination; electromyography extend of neurologic involvement
What is the diagnosis of Hydrocephalus
clinical picture and physical exam; CT and MRI
What is the diagnosis of Anencephaly
ultrasound of fetal head; elevated AFP levels
What is the diagnosis of Transposition of the Great Arteries
palpates neck vessels and auscultates for BP and murmurs; blood tests; cardiac catheterizations
What is the diagnosis of Clubfoot (Talipes Equinovarus)
obvious at birth
What is the diagnosis of Developmental Dysplasia of the Hip
positive Ortolani and Barlow maneuvers; ultrasound of hip
What is the diagnosis of Cleft Lip and Palate
obvious at birth
What is the diagnosis of Cryptorchidism (Undescended Testes)
visual examination; palpation, starting above inguinal ring and pushing downward on inguinal canal toward scrotum
What is the diagnosis of Wilms’ Tumor
physical examination to palpate kidneys; blood tests for kidney and liver function; US/CT/UA
What is the diagnosis of Phimosis
inability to slide prepuce back over glans penis
What is the diagnosis of Congenital Pyloric Stenosis
history and patient condition; UGIS; ultrasound of pylorus
What is the diagnosis of Hirschprung’s Disease (Congenital Aganglionic Megacolon)
radigraph of bowel; biopsy that confirms absence of ganglionic cells
What is the diagnosis of Cystic Fibrosis
genetic testing prenatally if parents are known carriers; sweat test elevated sodium and chloride
What is the diagnosis of Phenylketonuria
mandatory screening of newborn blood; positive guthrie test
What is the diagnosis of Klinefelter’s Syndrome
physical examination; serum and urine gonadotropin levels; semen analysis; chromosomal smear confirms
What is the diagnosis of Turner’s Syndrome
chromosomal smear shows only one X chromosome
What is the Diagnosis Chickenpox (Varicella Zoster)
characteristic skin rash is usually all that’s necessary
What is the diagnosis of Diptheria
membrane adhering to throat; culture of throat positive for C
What is the diagnosis of Mumps (Epidemic Parotitis)
clinical picture/swelling of parotid glands; male testes tenderness; polymerase chain react (PCR) confirmation
What is the diagnoisis of Pertussis (Whooping Cough)
bacteria studies positive for pertussis bacillus; PCR test; increased WBC count
What is the diagnosis of Measles (Rubeola)
clinical picture; rash and Koplik’s spots on oral mucosa
What is the diagnosis of (German Measles, Three-Day Measles)
clinical picture including rash; throat culture for rubella virus and serologic studies
What is the diagnosis of Tetanus
patient is fiercely ill; lab tests not always definite
What is the diagnosis of Sudden Infant Death Syndrome (SIDS)
complete postmortum investigation, including autopsy, review of medical history, and examination of scene of death fail to identify cause
What is the diagnosis of Croup
blood or throat cultures; radiographs of airway show “steeple sign”; rule out foreign body obstruction
What is the diagnosis of Epiglotitis
radiograph reveals epiglottitis; throat examined to inspect epiglottis
What is the diagnosis of Acute Tonsillitis
throat examined and throat culture is performed; increase WBC can be elevated
What is the diagnosis of Adenoid Hyperplasia
visualized on lateral pharyngeal radiograph films or nasopharyngoscopic exam
What is the diagnosis of Asthma
PFT’s; radiographic chest films-hyperinflation
What is the diagnosis of Bronchiolitis
patient history and physical examination; radiograph to rule out pneumonia; throat culture
What is the diagnosis of Infantile Colic
symptoms and physical examination to rule out other causes
What is the diagnosis of Helminth (Worm) Infestation
detection of eggs or worms in anal opening by placing of transparent adhesive tape in perianal area
What is the diagnosis of Diarrhea
fluid and electrolyte status and underlying cause; history and severity of symptoms
What is the diagnosis of Vomiting
evaluated in total state of health; determine underlying cause
What is the diagnosis of Anemia
laboratory testings for signs and symptoms of anemia; hematocrit, serum iron levels; hemoglobin, bone marrow studies
What is the diagnosis of Leukemia
peripheral blood smear; leukocytosis, neutropenia, anemia, thrombocytopenia; many laboratory tests
What is the diagnosis of Erythroblastosis Fetalis (Hemolytic Disease of the Newborn)
Coombs’ test of umbilical cord measures Rh-positive antibodies in newborn; amniotic sac analyzed for hemolysis
What is the diagnosis of Lead Poisoning
blood test reveals anemia and lead greater than 5 ug/dl;
What is the diagnosis of Reye’s Syndrome
blood studies show elevated serum ammonia levles; history and clinical features
What is the diagnosis of Fetal Alchohol Syndrome (FAS)
clinical features present in newborn; maternal history of alcoholism
What is the diagnosis of Diaper Rash
differentiate between seborrheic dermatitis, eczema, and other skin infections
What is the diagnosis of Neuroblastoma
measurement of urine and serum catecholamine levels; biopsy of mass gives diagnosis; CT
