Chapter 2: Developmental, Congenital, and Childhood Diseases and Disorders: Diagnosis

Question 1

What is the diagnosis of Preterm Birth or Prematurity

Answer 1

Neonates small for gestation age; low weight infants (may or may not)

Question 2

What is the diagnosis of Infant Respiratory Distress Syndrome

Answer 2

increase respiratory efforts and history of prematurity; radiograph shows infiltrate or hyaline membrane

Question 3

What is the diagnosis of Bronchopulmonary Dysplasia

Answer 3

radiograph shows abnormal alveolar damage, “ground glass”; ABG’s

Question 4

What is the diagnosis of Retinopathy of Prematurity

Answer 4

ophthalmoscope to visualize retina

Question 5

What is the diagnosis of Necrotizing Enterocolitis

Answer 5

CBC and elevated WBC count; guaiac test positive

Question 6

What is the diagnosis of Robinow Syndrome

Answer 6

genetic study showing chromosome defect; observation of small stature

Question 7

What is the diagnosis of Hypertrophic Cardiomyopathy

Answer 7

young people who have collapsed during exercise; family history of cardiac arrest; ECG/MRI

Question 8

What is the diagnosis of Down Syndrome

Answer 8

identified at or before birth; mild forms diagnosed later; karyotype showing chromosomal abnormality

Question 9

What is the diagnosis of Cerebral Palsy

Answer 9

clinical picture and neurologic examination

Question 10

What is the diagnosis of Muscular Dystrophy

Answer 10

muscle biopsy and electromyography; elevated serum creatine kinase

Question 11

What is the diagnosis of Spina Bifida Occulta

Answer 11

blood levels of AFP; prenatal ultrasonography or postnatal examination

Question 12

What is the diagnosis of Meningocele

Answer 12

visual examination of spinal area and presence of a sac; radiographs confirm

Question 13

What is the diagnosis of Myelomeningocele

Answer 13

physical examination; electromyography extend of neurologic involvement

Question 14

What is the diagnosis of Hydrocephalus

Answer 14

clinical picture and physical exam; CT and MRI

Question 15

What is the diagnosis of Anencephaly

Answer 15

ultrasound of fetal head; elevated AFP levels

Question 16

What is the diagnosis of Transposition of the Great Arteries

Answer 16

palpates neck vessels and auscultates for BP and murmurs; blood tests; cardiac catheterizations

Question 17

What is the diagnosis of Clubfoot (Talipes Equinovarus)

Answer 17

obvious at birth

Question 18

What is the diagnosis of Developmental Dysplasia of the Hip

Answer 18

positive Ortolani and Barlow maneuvers; ultrasound of hip

Question 19

What is the diagnosis of Cleft Lip and Palate

Answer 19

obvious at birth

Question 20

What is the diagnosis of Cryptorchidism (Undescended Testes)

Answer 20

visual examination; palpation, starting above inguinal ring and pushing downward on inguinal canal toward scrotum

Question 21

What is the diagnosis of Wilms’ Tumor

Answer 21

physical examination to palpate kidneys; blood tests for kidney and liver function; US/CT/UA

Question 22

What is the diagnosis of Phimosis

Answer 22

inability to slide prepuce back over glans penis

Question 23

What is the diagnosis of Congenital Pyloric Stenosis

Answer 23

history and patient condition; UGIS; ultrasound of pylorus

Question 24

What is the diagnosis of Hirschprung’s Disease (Congenital Aganglionic Megacolon)

Answer 24

radigraph of bowel; biopsy that confirms absence of ganglionic cells

Question 25

What is the diagnosis of Cystic Fibrosis

Answer 25

genetic testing prenatally if parents are known carriers; sweat test elevated sodium and chloride

Question 26

What is the diagnosis of Phenylketonuria

Answer 26

mandatory screening of newborn blood; positive guthrie test

Question 27

What is the diagnosis of Klinefelter’s Syndrome

Answer 27

physical examination; serum and urine gonadotropin levels; semen analysis; chromosomal smear confirms

Question 28

What is the diagnosis of Turner’s Syndrome

Answer 28

chromosomal smear shows only one X chromosome

Question 29

What is the Diagnosis Chickenpox (Varicella Zoster)

Answer 29

characteristic skin rash is usually all that’s necessary

Question 30

What is the diagnosis of Diptheria

Answer 30

membrane adhering to throat; culture of throat positive for C

Question 31

What is the diagnosis of Mumps (Epidemic Parotitis)

Answer 31

clinical picture/swelling of parotid glands; male testes tenderness; polymerase chain react (PCR) confirmation

Question 32

What is the diagnoisis of Pertussis (Whooping Cough)

Answer 32

bacteria studies positive for pertussis bacillus; PCR test; increased WBC count

Question 33

What is the diagnosis of Measles (Rubeola)

Answer 33

clinical picture; rash and Koplik’s spots on oral mucosa

Question 34

What is the diagnosis of (German Measles, Three-Day Measles)

Answer 34

clinical picture including rash; throat culture for rubella virus and serologic studies

Question 35

What is the diagnosis of Tetanus

Answer 35

patient is fiercely ill; lab tests not always definite

Question 36

What is the diagnosis of Sudden Infant Death Syndrome (SIDS)

Answer 36

complete postmortum investigation, including autopsy, review of medical history, and examination of scene of death fail to identify cause

Question 37

What is the diagnosis of Croup

Answer 37

blood or throat cultures; radiographs of airway show “steeple sign”; rule out foreign body obstruction

Question 38

What is the diagnosis of Epiglotitis

Answer 38

radiograph reveals epiglottitis; throat examined to inspect epiglottis

Question 39

What is the diagnosis of Acute Tonsillitis

Answer 39

throat examined and throat culture is performed; increase WBC can be elevated

Question 40

What is the diagnosis of Adenoid Hyperplasia

Answer 40

visualized on lateral pharyngeal radiograph films or nasopharyngoscopic exam

Question 41

What is the diagnosis of Asthma

Answer 41

PFT’s; radiographic chest films-hyperinflation

Question 42

What is the diagnosis of Bronchiolitis

Answer 42

patient history and physical examination; radiograph to rule out pneumonia; throat culture

Question 43

What is the diagnosis of Infantile Colic

Answer 43

symptoms and physical examination to rule out other causes

Question 44

What is the diagnosis of Helminth (Worm) Infestation

Answer 44

detection of eggs or worms in anal opening by placing of transparent adhesive tape in perianal area

Question 45

What is the diagnosis of Diarrhea

Answer 45

fluid and electrolyte status and underlying cause; history and severity of symptoms

Question 46

What is the diagnosis of Vomiting

Answer 46

evaluated in total state of health; determine underlying cause

Question 47

What is the diagnosis of Anemia

Answer 47

laboratory testings for signs and symptoms of anemia; hematocrit, serum iron levels; hemoglobin, bone marrow studies

Question 48

What is the diagnosis of Leukemia

Answer 48

peripheral blood smear; leukocytosis, neutropenia, anemia, thrombocytopenia; many laboratory tests

Question 49

What is the diagnosis of Erythroblastosis Fetalis (Hemolytic Disease of the Newborn)

Answer 49

Coombs’ test of umbilical cord measures Rh-positive antibodies in newborn; amniotic sac analyzed for hemolysis

Question 50

What is the diagnosis of Lead Poisoning

Answer 50

blood test reveals anemia and lead greater than 5 ug/dl;

Question 51

What is the diagnosis of Reye’s Syndrome

Answer 51

blood studies show elevated serum ammonia levles; history and clinical features

Question 52

What is the diagnosis of Fetal Alchohol Syndrome (FAS)

Answer 52

clinical features present in newborn; maternal history of alcoholism

Question 53

What is the diagnosis of Diaper Rash

Answer 53

differentiate between seborrheic dermatitis, eczema, and other skin infections

Question 54

What is the diagnosis of Neuroblastoma

Answer 54

measurement of urine and serum catecholamine levels; biopsy of mass gives diagnosis; CT