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245 Cards in this Set

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A 4 month old girl has a history of cyanosis while feeding. She has an x-ray that reveals a boot-shaped heart. Diagnosis?
Tetralogy of Fallot
What are the characteristics of Tetralogy of Fallot
Pulmonary valve stenosis
Right ventricular hypertrophy
Overridding aorta
Ventricular septal defect (VSD)

You have to PROVe Tetralogy of Fallot with an echo
None
What is the treatment for Tetralogy of Fallot
Surgical repair
How does the anatomy differ in transposition of the great arteries from Tetralogy of Fallot?
The aorta arises anteriorly from the right ventricle, while the pulmonary artery (PA) arises from the left ventricle. The aorta is posterior to the PA in a normal heart
None
Is transposition of the great arteries compatible with life?
No, unless there is a shunt (patent ductus arteriosus, VSD, etc,) present to allow mixing of the blood
What are the five congenital heart diseases that cause cyanosis (right to left shunt) early in postnatal life?
Truncus arteriosus
TGA
Tricuspid atresia
Tetralogy of Fallot
Total anomalous pulmonary venous connection (five words).

Count them on your hand
None
A 4 year old boy presents for a well-child checkup. On exam, you note a continuous machinery-like murmur. What should you suspect?
PDA
A birth, what is used to close a PDA
Indomethacin
What is used to keep open a PDA
Prostaglandin E
What is the most common congenital cardiac anomaly
VSD
What are the different types of VSD
Membranous (most common)
Infundibular
Muscular (multiple: Swiss-cheese septum)
None
What are the three congenital heart diseases that cause a left-to-right shunt and late cyanosis
PDA, VSD, ASD. All are three-letter acronyms containing a D
Why does late cyanosis occur with congenital heart diseases that cause a left-to-right shunt
With persistent left-to-right shunting, pulmonary resistance increases, leading to pulmonary hypertension. Eventually a left-to-right shunt becomes a right-to-left shunt, causing cyanosis
What is the name for the situation when a left-to-right shunt becomes a right-to-left shunt
Eisenmenger’s syndrome
What are the different types of ASDs
Primum (septum primum fails to fuse with endocardial cushions)
Secundum (most common due to inadequate development of the septum secundum)
None
A 2 year old girl presents with a flat, hypoplastic face, prominent epicanthal skin folds, small, low-set ears, stubby fingers, a transverse palmar crease, and mental retardation. What is the diagnosis and what cardiac malformation do you suspect
Trisomy 21 (Down syndrome) with an endocardial cushion defect
What are endocardial cushion defects
A spectrum of malformations including VSD, foramen primum, and cleft anterior leaflet of the mitral valve
A mother brings her 15 year old daughter to your clinic because she does not show any signs of breast development. The girl is 4ft 10in with a webbed neck, pigeon chest, and infantile sexual development. Diagnosis?
Turner’s syndrome
What cardiac defect is associated with Turner’s syndrome
Coarctation of the aorta
What are the two types of coarctation of the aorta
Infantile type-aortic stenosis is proximal to the insertion of the ductus arteriosus
Adult type- aortic stenosis is distal to the insertion of the ductus arteriosus
None
What are the characteristics of coarctation of the aorta
Notching of the ribs
Higher blood pressure in the upper extremities when compared to the lower
None
A 28 week gestation newborn begins gasping for air. She shows signs of cyanosis and retraction of the sternum. Diagnosis?
Respiratory distress syndrome (RDS) aka hyaline membrane disease
What are the risk factors for respiratory distress syndrome
Prematurity, male gender, maternal diabetes, and delivery by cesarean section
None
What is the pathophysiology of respiratory distress syndrome
Insufficient pulmonary surfactant
What does the chest x-ray of an infant with respiratory distress syndrome show
Uniform, minute reticulogranular densities producing a “ground-glass” appearance
What are the microscopic features of respiratory distress syndrome
Collapsed air spaces, expanded respiratory bronchioles, and alveolar ducts lined by eosinophilic hyaline membranes
What is the treatment of respiratory distress syndrome
Surfactant replacement therapy and oxygen
A 31 week gestation infant who required oxygen for Respiratory Distress Syndrome over the past 30 days progressively deteriorates and expires. What is the most likely cause of death
Bronchopulmonary dysplasia
None
A 42 week gestation infant develops respiratory distress. His birth was complicated by fetal distress and the amniotic fluid was stained with meconium. What is the most likely cause of distress
Meconium aspiration (chemical pneumonitis)
A 5 year old Caucasian boy presents with a history of a meconium ileus at birth, recurrent sinusitis, and foul-smelling stools. What diagnosis should you consider
Cystic fibrosis
How is the diagnosis of cystic fibrosis confirmed
Sweat test shows increased sweat chloride concentration on two or more occasions
What is the genetic defect in cystic fibrosis
Autosomal recessive mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7
What is the pathogenesis of cystic fibrosis
The defective chloride channel causes secretion of abnormally viscid mucus that plugs the liver, pancreas, and lungs
What organisms colonize/ infect individuals with cystic fibrosis
Pseudomonas aeruginosa, Staphylococcus aureus, Hemophilus influenzae
What is the treatment for cystic fibrosis
Symptomatic treatment with N-acetylcysteine can loosen mucous plugs
What clinical feature of cystic fibrosis is unique in males
Congenital bilateral absence of the vas deferens, azoospermia, and infertility
The parents of a 4 month old boy present to the ER after finding their son lifeless in his crib. The autopsy, examination of death scene, and review of the case history is negative. Diagnosis?
SIDS
What is the number one cause of death in infants ages 1 month to 1 year
SIDS
A 2-day girl is evaluated in the newborn nursery with immediate regurgitation when feeding is attempted. Diagnosis?
Tracheoesophageal fistula
What are the associated defects with tracheoesophageal fistula
Vertebral
Anal
Cardiac
Tracheal
Esophageal
Renal
Limb

VACTERL anomalies
None
What is the most common type of tracheoesophageal fistula
Blind upper esophageal atresia, with a fistula between the lower esophagus and trachea
A 3 week old boy presents to your ER with projectile, nonbilious vomiting. He has a palpable abdominal olive on exam. Diagnosis?
Hypertrophic pyloric stenosis
What is the pathogenesis of pyloric stenosis
Hypertrophy and possibly hyperplasia of the muscularis propria of the pyloric wall. Inflammation and edema may increase the narrowing
What is the treatment for pyloric stenosis
Pyloromyotomy (surgical muscle splitting)
A 2 week newborn presents with forceful, bilious vomiting and abdominal distention. What do you suspect
Annular pancreas
How does an annular pancreas form
A band of pancreatic tissue (from a bifid ventral pancreatic bud) surrounds the duodenum
A 40 week gestation girl with Down syndrome presents with bilious emesis within hours after first feeding. What is the most likely diagnosis
Duodenal atresia
What are the radiographic findings of duodenal atresia
Double bubble sign (air bubbles in the stomach and duodenum)
What is the treatment for duodenal atresia
Surgical repair
An 18 month old presents to your office with painless, rectal bleeding. She has a history of intestinal obstruction with a volvulus at birth. Diagnosis?
Meckel’s diverticulum
What is Meckel’s diverticulum
Persistence of the vitelline duct, which connects the developing gut to the yolk sac
What are the characteristics of Meckel’s diverticulum
2% of the general population, 2 ft from the ileocecal valve, 2 in. in length, 2 years old or younger, typically

Follow the Rule of 2s and try not 2 miss it!
None
A 13 month old girl presents with intense, episodic abdominal pain and currant-jelly stools. On exam, you palpate a sausage-like mass in the right upper quadrant. What do you suspect
Intussusception
What is the pathophysiology of intussusception
Proximal portion of the GI tract telescopes into the adjacent portion. Proximal portion, or leading point, may be a Meckel’s diverticulum, polyp, or tumor
None
What is the treatment for an intussusception
Air contrast enema
A 4 day old male with a patent anus has not passed a bowel movement and is developing abdominal distension. An ab x-ray after a barium enema reveals a dilated megacolon. What do you suspect
Hirschsprung’s disease
If Hirschprung's disease is suspected, what is the next step in diagnosis
Rectal biopsy showing lack of ganglion cells is confirmatory
None
The biopsy of the intestine reveals a lack of ganglion cells (Auerbach’s and Meissner’s plexuses) in the muscle wall. What is the cause of this defect
Failure of neural crest cell migration
What is the treatment of Hischsprung’s disease
Colostomy prior to corrective surgery allows for pelvic growth and normalization of dilated bowel
An infant is born with the abdominal contents outside the body, yet contained in a midline sac of peritoneum. What is the most likely diagnosis?
Omphalocele. The O reminds you of the belly button which is midline and covered (by skin)
What other abnormalities are associated with an omphalocele
GI and cardiac defects
None
An infant is born with the abdominal contents outside of the body lateral to the umbilicus and not covered by peritoneum. Diagnosis?
Gastroschisis
A 17 year old boy presents with lower abdominal cramping and bloody diarrhea. Colonoscopy reveals mucosal damage extending from the rectum proximally in a continuous fashion. What do you suspect
Ulcerative colitis
A 13 year old boy presents with watery diarrhea and a 10lb weight loss over the past 2 months. On exam, you find perianal fissures and a fistula. Diagnosis?
Crohn’s disease
None
An 8 year old girl presents to the ER with abdominal pain, fever, and vomiting. She states the pain began around her belly button and now she has right lower quadrant pain and rebound tenderness. Diagnosis?
Appendicitis
None
What is the treatment of appendicitis
Appendectomy
A 40 week gestation infant develops respiratory distress after birth. A chest x-ray reveals loops of bowel within the chest. What do you suspect?
Congenital diaphragmatic hernia
Which side of the body is more common for a congenital diaphragmatic hernia
Left
None
What is the pathogenesis of congenital diaphragmatic hernias
Abnormal formation of one of the pleuroperitoneal membranes, or the defect in the fusion of pleuroperitoneal membrane with the septum transversum and mesentery of the esophagus
None
What is the treatment of congenital diaphragmatic hernia
Surgical repair
A 25 week gestation infant weighing 1450g at birth begins to develop bloody stools, abdominal distention, and circulatory collapse. Ab x-ray reveals gas in the intestinal wall. What do you suspect?
Necrotizing enterocolitis (NEC)
A 3 year old girl presents with hematuria and abdominal pain after falling off her tricycle. On physical exam, you palpate a mass in her abdomen. Diagnosis?
Wilm’s tumor (WT)
What is the germline deletion associated with Wilm’s tumor
WT1. Wilm’s tumor is the no. 1 cause of renal tumors in childhood
A 24 year old woman has a stillbirth. There is a history of severe oligohydramnios throughout the pregnancy. What is a potential cause of the stillbirth
Bilateral renal agenesis
Upon careful examination, an infant with bilateral renal agenesis was found to also have pulmonary hypoplasia along with limb and facial deformities. What is the associated syndrome
Potter’s syndrome
What is the developmental defect in renal agenesis
Failure of the ureteric bud(s) to develop
A 7 year old boy presents with tea-colored urine. His mother reports that he had a sore throat 2 weeks ago. What is the most likely diagnosis?
Poststreptococcal glomerulonephritis
None
A 5 year old girl presents after an automobile accident. An ab CT is ordered to rule out trauma to the spleen. A horseshoe kidney is incidentally noted. How did this form
A horseshoe kidney typically is located in the lower lumbar region with fused caudal ends due to the fusion of the metanephric blastema
A 40 week gestation infant is seen in the newborn nursery with underdevelopment of the mandible, glossoptosis, and a cleft palate. What do you suspect
Pierre Robin syndrome
An infant presents with underdevelopment of the zygomatic bones, mandibular hypoplasia, lower lid colobomas, and malformed external ears. What is the most likely diagnosis
Treacher Collins syndrome
None
What do Treacher Collins and Pierre Robin syndrome have in common
They are both first pharyngeal arch syndromes resulting from insufficient neural crest cells
A 3 month old girl is taken for surgical aortic arch repair. During the operation, the surgeon cannot find the thymus. You note that she also suffers from hypocalcemia, a cleft palate, and low-set ears. Diagnosis?
DiGeorge syndrome
What is the developmental defect in DiGeorge syndrome
Failure of the third and fourth pharyngeal pouches to differentiate
You are making rounds in the neonatal intensive care unit. One infant has rocker-bottom feet, low-set ears, micrognathia, a prominent occiput, and clenched hands. What do you suspect
Edward’s syndrome
None
What is the genetic defect in Edward’s syndrome
Trisomy 18
A child in the unit presents with microcephaly, microphthalmia, cleft lip/ palate, abnormal forebrain structures, and polydactyly. What do you suspect
Patau’s syndrome
What is the genetic defect in Patau’s syndrome
Trisomy 13
What additional characteristics are shared by trisomy 18 and trisomy 13
Both have severe mental retardation, congenital heart disease, and early death (usually before age 1)
A 35 week gestational infant is born with intrauterine growth retardation, indistinct philtrum, shortened palpebral fissures, and microcephaly. The mother is a known alcoholic. Diagnosis?
Fetal alcohol syndrome
What is the pathophysiology of fetal alcohol syndrome
Inhibition of cell migration
A mother brings in her 13 month old daughter because she is concerned that she is not sitting up, crawling, or saying any words. You note the child has microcephaly, a moonlike face, and a high-pitched cry. What do you suspect
Cri du chat syndrome
What is the chromosomal deletion in cri du chat
Macrodeletion of the short arm of chromosome 5 (5p-)
A 7 year old boy presents with his mother who states she cannot control his appetite. She catches him eating food out of the trash cans and she had to put a lock on the pantry. He has small extremities, mentral retardation, and microphallus. Diagnosis?
Prader-Willi syndrome
What is the chromosomal deletion in Prader-Willi
Paternal 15q11-13 *P for Paternal and Prader-Willi
A 9 year old girl presents to the clinic with inappropriate laughter, hypopigmentation of the irises, ataxia, tongue protrusion, and seizures. What do you suspect
Angelman’s syndrome
What is the chromosomal deletion in Angelman’s
Maternal 15q11-13 *Mother’s are angels
A 4 year old boy with abnormally large calves presents to your office. You watch as he rises from the floor putting his hands on his thighs to help him stand. What is this called
Gower’s maneuver
What disease is suspected in a male child who demonstrates Gower’s maneuver
Duchenne’s muscular dystrophy
What is the genetic defect in Duchenne’s muscular dystrophy
X-linked (Xp21.2) deletion of the dystrophin gene
Why are the calf muscles large in Duchenne’s muscular dystrophy
Pseudohypertrophy of calf muscle due to fibrofatty replacement of muscle
How do you diagnose Duchenne’s muscular dystrophy
Muscle biopsy and elevated creatine phosphokinase (CPK)
What is the typical clinical course of Duchenne’s muscular dystrophy
Progressive muscular atrophy requiring wheelchair use by 12-15 years of age and eventual death from respiratory complications in the twenties
What is a milder form of dystrophinopathy that also contains a mutated dystrophin gene
Becker’s muscular dystrophy
A 5 year old boy presents to your office with his sixth fracture. On careful exam, you note he has blue sclerae. Diagnosis?
Osteogenesis imperfecta type I (brittle bone disease)
What is the pathogenesis of osteogenesis imperfecta
Deficiencies in the synthesis of type I collagen
What is the inheritance pattern and gene mutation of osteogenesis imperfecta type I
Autosomal dominant mutation of the COL1A1 gene
A 2 year old girl presents for her well-child check. You note she is short in stature, has shortened limbs, frontal bossing, and slight midface deficiency. What do you suspect
Achondroplasia
What is the inheritance pattern and gene mutation of achondroplasia
Autosomal dominant inheritance of FGFR3 mutation on the short arm of chromosome 4
An 18 month old presents for an abnormal gait. The parents report he has bowing of the legs and lumbar lordosis. You also note craniotabes and a pigeon breast deformity. What do you suspect
Rickets
What is the vitamin deficiency found in children with rickets
Vitamin D
A 14 year old boy presents with left knee pain and swelling that has increased over the month. In examination, you palpate a mass over the tibia with warmth, tenderness, and decreased range of motion in the knee. Diagnosis?
Osteosarcoma, the most common primary malignant tumor of the bone
What is the treatment for osteosarcoma
Preoperative chemotherapy
Surgical resection of the tumor
Postoperative chemotherapy
None
A 12 year old boy presents with a painful mass on his thigh. You note the area is tender, warm, and swollen. An xray shows a destructive lytic tumor with surrounding bone in an onion-skin appearance. What is the most likely diagnosis
Ewing’s sarcoma
What are the histological features of Ewing’s sarcoma
Sheets of uniform, small, round, blue cells
Scant, clear cytoplasm
Homer-Wright rosettes
None
What is the genetic defect associated with Ewing’s sarcoma
Translocation of 11;22
What is the treatment for Ewing’s sarcoma
Chemotherapy and surgical excision with or without radiation
What are the small blue cell tumors
Lymphoma
Neuroblastoma
Rhabdomyosarcoma
Ewing’s sarcoma
Wilm’s tumor

Remember Lyn Rhew knew tumors
None
What is the most common soft tissue tumor of childhood and adolescence
Rhabdomyosarcoma
What are the three histological variants of rhabdomyosarcoma
Embryonal—sheets of blue cells and diagnostic rhabdomyoblasts
Alveolar
Pleomorphic
None
A 4 year old girl presents with high, spiking fevers for 3 weeks. She also has a rash, body aches, and refused to stand. You find she has lymphadenopathy and joint swelling. What do you suspect
Juvenile rheumatoid arthritis (JRA)
What is the treatment for juvenile rheumatoid arthritis
Nonsteroidal anti-inflammatory drugs
Hydroxychloroquine
Methotrexate
Glucocorticoids
None
During a newborn exam in the nursery, you note a tuft of hair over the base of the spine. Diagnosis?
Spina bifida occulta
None
What neural tube defect causes meninges to herniate through a spinal canal defect producing a cystic swelling at the base of the spine
Meningocele
None
What neural tube defect causes meninges and the spinal cord to herniated through a spinal canal defect
Meningomyelocele
What diet supplement has been shown to reduce the incidence of neural tube defects
Folic acid
An 8 year old girl previously diagnosed with ADHD presents with continued attention problems. Her mother states that several times a day, her daughter will stare off into space for 5-10 seconds, become unresponsive, and have eye fluttering. What do you suspect
Absence seizures
None
How do you diagnose absence seizures
EEG will show the classic 3-Hz spike-and-wave pattern
What is the treatment for absence seizures
Ethosuximide
A 7 month old boy with developmental delay presents to your office with a history of tonic seizures occurring daily for the past week. His mother states the seizures involve both arms and occur in clusters of 5-10 spasms. Diagnosis?
Infantile spasms (West’s syndrome)
What is the characteristic finding on EEG for infantile spasms
Hypsarrhythmia
What is the treatment for infantile spasms
ACTH
A 2 month old presents to your office with unusual skin lesions. On exam, you count 10 café au lait spots, note freckling in the axilla, and pigmented iris hamartomas (Lisch nodules). Diagnosis?
Neurofibromatosis 1 (von Recklinghausen’s disease)
How does NF2 differ from NF1
Bilateral acoustic neuromas
Meningiomas
Gliomas
Schwannomas
Neurofibromas

Remember all of the omas in type II
None
What is the genetic association with NF1 and NF 2
NF1—chromosome 17q
NF2—chromosome 22
None
A 4 year old girl presents to your office with a large port-wine stain over her face, encephalofacial angiomatosis, mental retardation, and epilepsy. What do you suspect
Sturge-Weber syndrome
What are the characteristic findings of Sturge-Weber on CT
Calcifications in the cerebral cortex in a railroad-track pattern
A 3 year old boy with a history of infantile spasms presents to your office for evaluation. On exam, you note an ash-leaf lesion on his back, sebaceous adenomas on his face, and retinal phakomas. Diagnosis?
Tuberous sclerosis
What is the pathogenesis of tuberous sclerosis
Symptoms are secondary to small benign tumors (tubers) that grow on the face, eye, brain, kidney, and other organs
A 5 year old girl presents with recurrent nausea, vomiting, and headaches. She has an ataxic gait, retinoblastoma, and hemangioblastomas of the brain. Diagnosis?
von Hippel-Lindau disease
None
What is the genetic defect in VHL disease
Deletion of VHL gene on chromosome 3. Three letters for chromosome 3
What is the treatment for VHL disease
Surgical resection or radiation
A 6 year old boy presents with recurrent epistaxis, hepatomegaly with right upper quadrant pain, telangiectasias, and a family history of similar symptoms. What do you suspect
Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia)
What is the treatment for Osler-Weber-Rendu syndrome
Iron and folate supplementation for bleeding along with surgical excision of enlarging or symptomatic fistulas
None
What is the most common brain tumor in children
Medulloblastoma
What are the characteristics of medulloblastoma
The tumor may compress the fourth ventricle causing an increase in intracranial pressure and hydrocephalus
None
What are the histological characteristics of medulloblastoma
Hypercellular small blue cell tumor
Rosettes or perivascular pseudorosette
None
A 7 year old girl presents with persistent headaches over the past month and recent onset of left-sided facial paralysis. What might you suspect
Astrocytoma
What are the histologic characteristics of astrocytoma
Rosenthal fibers
A 5 year old boy presents limping into your office with petechiae on his face and chest. He has a temperature of 100.5 F and hepatomegaly. What do you suspect
Acute lymphoblastic leukemia
What is pathognomonic for ALL
>20% blasts in the bone marrow
None
What is the treatment for ALL
Combination therapy
A 3 year old girl presents with a mediastinal mass and immature T cells. What do you suspect
Lymphoblastic lymphoma
A 13 year old boy from England presents with fatigue, easy bruising, bone pain, and hepatosplenomegaly. A peripheral blood smear reveals pancytopenia without leukemic cells. What do you suspect
Gaucher’s disease (Type 1), the most common lysosomal storage disease
What is the lysosomal deficiency, deposited substance, and inheritance pattern in Gaucher’s disease
Deficiency: β-glucocerebroside
Deposited substance: glucocerebroside
Inheritance: Autosomal recessive
None
A 2 month old girl presents to your office with decreased eye contact, increased startle response, seizures, and a cherry-red spot on the macula. What do you suspect
Tay-Sachs disease
What is the lysosomal deficiency, deposited substance, and inheritance pattern in Tay-Sachs
Deficiency: hexoaminidase A
Deposited substance: GM2 gangliosides
Inheritance: Autosomal recessive
None
A 12 month old girl presents with failure to thrive, organomegaly, seizures, and discolored skin. What do you suspect
Niemann-Pick disease
What is the lysosomal deficiency, deposited substance, and inheritance pattern in Niemann-Pick disease
Deficiency: sphingomyelinase
Deposited substance: sphingomyelin
Inheritance: Autosomal recessive
None
A 6 month old girl presents with optic atrophy, spasticity, and dies within 1 month. What is the most likely cause of death
Krabbe’s disease
What is the lysosomal deficiency, deposited substance, and inheritance pattern in Krabbe’s disease
Deficiency: galactosylceramide β-galactosidase
Deposited substance: galactocerebroside
Inheritance pattern: Autosomal recessive
None
A 6 year old boy presents with a pain crisis with angiokeratomas, hypohibrosis, and corneal opacities. Diagnosis?
Fabry’s disease
What is the lysosomal deficiency, deposited substance, and inheritance pattern with Fabry’s disease
Deficiency: α-galactosidase A
Deposited substance: neutral glycosphingolipids
Inheritance: X-linked recessive
None
A 14 month old boy presents with coarse facies, mild mental retardation, gingival hyperplasia, organomegaly, but no corneal clouding. What do you suspect
Hunter’s syndrome
What is the lysosomal deficiency, deposited substance, and inheritance pattern in Hunter’s syndrome
Deficiency: iduronate sulfate
Deposited substance: heparin sulfate and dermatan sulfate
Inheritance: X-linked recessive
None
An 8 month old girl presents with coarse facies, severe mental retardation, gingival hyperplasia, organomegaly, and corneal clouding. What is the most likely diagnosis
Hurler’s syndrome
What is the lysosomal deficiency, deposited substance, and inheritance pattern in Hurler’s syndrome
Deficiency: α-L-iduronidase
Deposited substance: heparin sulfate and dermatan sulfate
Inheritance: autosomal recessive
None
What is hydrops fetalis
Generalized fetal edema
What does this picture demonstrate
Stillborn infant with features of hydrops fetalis (anasarca) and hepatosplenomegaly
What are three common mechanisms of developing hydrops fetalis?
Fetal anemia
Hypoproteinemia
Cardiac failure

More than one mechanism may be involved in a particular case
The placenta of a child with hydrops fetalis was large and bulky. This section was taken. Diagnosis?
CMV villitis
Placenta may be normal in size or large and edematous
Placenta is pale and bulky (sharp demarcation of the cotyledons is obscured) in cases associated with hydrops fetalis (massive anasarca associated with cardiac decompensation and circulatory collapse)
Cord and placental membranes are unremarkable
What does this picture of the placenta demonstrate
CMV
CMV inclusions are rarely seen in the villi, but are present in this case
How Is CMV transmitted to the fetus?
Approximately 50% of women have not been exposed to CMV at the time of pregnancy and of these about 3% will be exposed to CMV during the pregnancy
Transmission of CMV to the fetus is transplacental and occurs in 20-50% of cases after a primary maternal infection
How is congenital CMV diagnosed?
Diagnosis is based on a combination of urinalysis, rising viral titers, virus isolation and placental examination.
What does this picture demonstrate
Toxoplasma
What does this picture demonstrate
CMV (HIV+ patient)
What are the clinical manifestations of CMV in a fetus
Fetus shows widespread dissemination of CMV throughout many organs resulting in jaundice, hepatosplenomegaly, thrombocytopenic purpura, pneumonia, deafness, chorioretinitis and brain damage
What is the CNS lesion in CMV associated with
Periventricular necrosis and calcification which may be visualized radiographically. It is periventricular due to the CMV affinity for rapidly growing germinal matrix cells
Ninety percent of fetal infections with CMV are asymptomatic in the neonate. What happens to these kids afterwards
Hearing deficits and learning problems may develop in up to 20%.
How do group B streptococcal infections differ from a TORCH infection
Group B strep and other bacterial organisms that can colonize the vaginal canal cause an ascending infection and infect the placental membranes
What does this picture demonstrate
Chorioamnionitis in Strep infection
What does this picture demonstrate
Chorioamnionitis in strep infection

Listeria can spread hematogenously and cause abscess in the placenta
What fetal disease is associated with pneumonia alba, snuffles, periostitis, and Hutchinson teeth
Syphilis
What fetal disease is associated with myocarditis
Coxsackie B
What fetal disease is associated with PDA, cataracts, and deafness
Rubella
What fetal disease is associated with multifocal cerebral calcifications
Toxoplasmosis
What fetal disease is associated with ascending infection and small necrotic lesions
Herpes simplex
What fetal disease is associated with a urine cytology diagnosis
CMV
What fetal disease is associated with hydrops and RBC nuclear inclusions
Parvovirus B19
What is the Moro reflex? What is the significance of its absence or an asymmetric response?
A diminished or absent response suggests significant CNS dysfunction. An asymmetric response may be caused by hemiparesis, clavicle fracture or brachial plexus injury.
What causes neonatal respiratory distress syndrome (HMD)?
HMD is a disorder related to the deficiency of pulmonary surfactant
Most often due to the biochemical immaturity of the lung in premature infants
Other factors predisposing to surfactant deficiency include
-maternal diabetes
-twin gestation
-wide variety of circumstances causing intrauterine or perinatal anoxia (e.g.,maternal hemorrhage, aspiration, hypothermia)
What shows maturity of lungs?
Lechitin: Sphingomyelin Ratio
2:1 in normal
3:1 in high-risk (ex. Diabetic)
What can you give to a premature baby if the lungs are not mature?
Dexomethasone – corticosteroid given ~72h before birth, gets type II alveoli to mature faster
What is the significance of the L/S Ratio?
Lecithin, a phospholipid (phosphatidylcholine), is a major component of surfactant
In the amniotic fluid, it reflects the production of surfactant by the fetal lung
As the lung matures, the lecithin level rises
Sphingomyelin, another phospholipid, exceeds lecithin until the 26th week when lecithin levels begin to rise
By the 35th week, lecithin levels are twice sphingomyelin levels and the lung is considered mature with a low risk of developing HMD (hyaline membrane disease)
In complicated pregnancies, especially if the mother is diabetic, levels of 2:1 still carry a risk of HMD and some studies recommend a level of 3:1 before delivery
What is the primary therapy for respiratory distress syndrome
In immature (<1000 grams) or premature (1000-2500 grams) infants therapy includes administration of exogenous surfactant shortly after delivery
Has significantly reduced the mortality and morbidity of small infants
Unusual now for infants over 1000-1200 grams birth weight to have significant respiratory distress and even infants in the 700-900 gram range have a markedly improved outcome since the advent of exogenous surfactant therapy
In mothers with a threatened premature delivery, antenatal corticosteroids may also be of help in “promoting” the maturation of the lung
What does this picture demonstrate
Hyaline membrane disease

Lungs - firm, deep red and often referred to as “liver-like”
On cut section - lungs are stiff and may sink when placed in water

Note: In this picture a chest tube placed for pneumothorax pierces the stiff lung
What does this picture demonstrate
Hyaline membrane disease

Lungs are focally atelectatic and hemorrhagic with dilated terminal and respiratory bronchioles
Bronchioles are lined by pink, smooth hyaline membranes which develop in the first 12-24 hours
If a neonate does not respond to mechanical ventilation or O2 therapy, what should your next step be
Extracorporeal membrane oxygenation
What does this picture demonstrate
Area of alveolar septal fibrosis (left), and area of alveolar growth arrest (right)

In infants with severe respiratory distress requiring prolonged ventilation with even moderate levels of oxygen, the growth of the lung may be slowed or even stopped leading to as much as a 2-10 fold reduction in the total number of alveoli
What does this picture demonstrate
“Chronic pulmonary disease” following surfactant administration to a neonate displaying simplified acini with decreased number of alveolar ducts and alveoli
Discuss the incidence and complications of intra-ventricular hemorrhage in premature infants
Incidence of intra-ventricular hemorrhage (IVH) increases with decreasing birth weight, ranging from 10-20% in 1000-1500 gm infants to 60-70% in 500-750 gm infants
Mortality is related to the weight of the infant and the extent of hemorrhage
Complications of IVH include seizures, death, periventricular leukomalacia (necrosis of the white matter of the brain) and hydrocephalus
What does this picture demonstrate
Intraventricular hemorrage in the brain

IVH develops from hemorrhage in the subependymal germinal matrix that then may extend into the ventricles of the brain and eventually through the foramina to surround the spinal cord
How can IVH be measured by ultrasound
Mild - confined to general matrix or small amount in a normal sized lateral ventricle.
Moderate - blood in enlarged lateral ventricles.
Severe - blood filling entire lateral ventricle forming a cast and/or intracerebral extensions of blood, sometimes hydrocephalus
How is IVH classified at autopsy
I - Hemorrhage restricted to germinal matrix
II - Intra-ventricular extension of hemorrhage without dilation
III - Intra-ventricular hemorrhage with dilatation of ventricles
IV - Intra-ventricular and intra-parenchymal hemorrhage
What does this picture demonstrate
Necrotizing enterocolitis

NEC - Radiologic and clinical evidence of pneumatosis intestinalis (gas within the wall of the bowel) and gas in the portal or hepatic veins
Perforation of the necrotic bowel leads to free air in the abdomen
What does this picture demonstrate
Necrotizing enterocolitis

This lesion is called pneumatosis intestinalis

Earliest stages display coagulative and hemorrhagic necrosis of mucosa and air may dissect beneath the mucosa
What does this picture demonstrate
NEC

Later stages - transmural necrosis
With healing, scarring (fibrosis) occurs, often leading to strictures of segments of the bowel
Discuss the Incidence and Risk Factors of NEC
NEC occurs in 1-5% of infants admitted to neonatal intensive care units
Risk factors include
-asphyxia
-prematurity
-low birth weight
-cyanotic congenital heart disease
-gastroschisis
-maternal cocaine abuse
Discuss the Prognosis and Complications of NEC
NEC is associated with a mortality rate of 10-25%
Higher incidence seen in those infants requiring resection of portions of bowel because of intestinal perforation
Complications and sequelae of NEC include:
-intestinal perforation
-strictures (seen in 10% of infants with NEC)
-short bowel syndrome (following resection)
-sepsis
-fistula formation
-liver disease from prolonged total parenteral nutrition(TPN)
What are the gross features of Hurler syndrome- Mucopolysaccharidosis
Coarse facial features, clouding of corneas,joint stiffness, mental retardation
Accumulation of glycosaminoglycans in various locations (spleen, liver, bone marrow, lymph nodes, blood vessels, and heart) can lead to some of the physical findings that characterize this disease: hepatosplenomegaly, skeletal deformities, valvular lesions, subendothelial arterial deposits - especially coronaries and CNS vessels
What does this picture demonstrate
Hurler disease

Liver: Hepatocytes and Kupffer cells are distended with apparent cytoplasmic clearing. No fibrosis present in these sections. The accumulated mucopolysaccharide stains blue.
What do these pictures demonstrate
Alder-Reilly anomaly
(dense neutrophil granules)
What is the inheritance pattern and etiology of Hurler syndrome
AR
Defect in alpha-L-iduronidase
What is the inheritance pattern and etiology of Hunter syndrome
X-linked
Defect in L-iduronosulfate sulfatase
Infant with hepatosplenomegaly, failure to thrive, vomiting, fever, lymphadenopathy and psychomotor deterioration. Liver biopsy demonstrates accumulation of sphingomyelin
Niemann-Pick Disease
Glucocerebroside accumulates in mononuclear phagocytes throughout body, with spleen and bone involvement predominating (no CNS involvement)
Gaucher Disease (type I)
Relentless motor and mental deterioration leading to flaccidity, blindness, dementia, and death by age 2-3 years due to hexosaminidase-a deficiency. Cherry red spot.
Tay-Sachs disease
Hepatomegaly, renomegaly, hypoglycemia
Glycogen storage disease
Name two lysosomal storage disease
Fabry
Metachromatic leukodystrophy
What is the defect in Fabry's disease
α-galactosidase A
What is the defect in Metachromatic leukodystrophy
Aryl-sulfatase-A
Name three glycogen storage diseases
Type I- von Gierke
Type II- Pompei
Type V- McArdles
What is the defect in von Gierke's disease
Glucose-6-phosphatase
What is the deficiency in Pompei's disease
Lysosomal α-glucosidase
What is the deficiency in McArdle's disease
Muscle glycogen phosphorylase
What is the most common clinical presentation of Wilm's tumor
Palpable abdominal mass in a 3-4 year old
Constitutional signs uncommon
Microscopic hematuria (25%)
Hypertension (20%)--From tumor renin, not mass effect
5-10% synchronous or metachronous
What are four anomalies and syndromes associated with Wilm's tumor
Beckwith-Wiedemann syndrome: gigantism, macroglossia, hemihypertrophy, visceromegaly, omphalocele
WAGR syndrome: Wilms, aniridia, genital anomaly, retardation
DRASH syndrome: male pseudohermaphroditism, Wilms tumor, chronic renal failure
Trisomy 18
This is found in a 3 year old. Diagnosis?
Wilm's tumor

Spherical, soft and friable
May invade renal capsule, sinus or vessels, extending up the vena cava occasionally as far as the right atrium
Usually sharply demarcated from the normal kidney
12-15% multicentric, about 5% bilateral
What does this picture demonstrate
Wilms Tumor

3 tissue patterns:
Blastemal: clusters of small round blue cells
Epithelial: glands and tubules
Stromal: cartilage nodule .
What does this picture demonstrate
Wilm's tumor

Monophasic:
Only blastemal pattern with small, round to oval blue cells (similar to lymphs) are seen in this area.
Describe the diagnosis and significance of anaplasia in Wilms tumor
Anaplasia is associated with resistance to chemotherapy
Anaplasia may be focal or diffuse-diffuse anaplasia is significant from stage 2 on
Nuclei that are at least three times the diameter of a red blood cell
increased DNA content reflected in hyperchromasia of the nucleus
Abnormal multipolar mitoses
What are Nephrogenic Rests? What is their significance?
Renal tissue lagging in maturation
Found in 30-40% of Wilms
INTRALOBAR, PERILOBAR or COMBINED
Associated with bilateral Wilms
What is the treatment of Wilm’s tumor?
Based on the stage of the tumor and the presence or absence of diffuse anaplasia (i.e. the grade of the tumor), the patient may be treated with only surgical excision or with additional chemotherapy.
The role of the pathologist in establishing the method of treatment is important in that involvement of the renal sinus by tumor may only be seen microscopically and significantly changes the stage of the tumor and the treatment.

The presence of anaplasia in multiple areas of the tumor (vs no anaplasia or a few small foci) also influences the treatment, independent of the stage of the lesion.
In addition, some highly malignant tumors of the kidney in children (clear cell sarcoma and rhabdoid tumor) may resemble Wilms tumor and must be distinguished from it
Beside's Wilm's tumor, what other renal tumors are seen in children
Mesoblasti nephroma
Clear cell sarcoma of the kidney
Rhabdoid tumor
What does this picture demonstrate
Neuroblastoma

Tumor most commonly in the adrenal, retroperitoneum, or mediastinum
Tumors are red and hemorrhagic with areas of gray-white tissue and small cysts
Calcification is present in 85% of cases and is often visible on CT and MRI
What are some other ways in which neuroblastoma may present?
Metastases to the orbit may produce hemorrhage and edema giving “raccoon” or “panda” like appearance to face
Cutaneous metastases produce nodules that blanch on compression “blueberry muffin babies”
Respiratory distress in newborn with Stage IVS disease and massive hepatomegaly (due to metastases) elevating diaphragms and compressing lungs
What does this picture demonstate
Neuroblastoma
Tumors are red and hemorrhagic with areas of gray-white tissue and small cysts
What does this picture demonstrate
Neuroblastoma
Composed of primitive neuroblasts (one of the small, round, blue-cell tumors of children)
Areas of necrosis and calcification are frequently present
Differentiation of neuroblasts into ganglion cells may indicate tumor is a ganglioneuroblastoma or a ganglioneuroma
What does this picture demonstrate
Neuroblastoma

Composed of primitive neuroblasts (one of the small, round, blue-cell tumors of children)
Contains circular structures (rosettes) formed by neuroblasts with central fibrillar matrix of cell processes
Cellular stroma may separate clusters of neuroblasts
What is the most frequent single solid tumor in children
Neuroblastoma is the most frequent single solid tumor and is often used as an index in comparing the frequency of other tumors
Following neuroblastoma are Wilms tumor, osteosarcoma and rhabdomyosarcoma
What laboratory tests may be helpful in diagnosing neuroblastoma?
Neuroblastomas produce catecholamines in 85% of cases that can be detected in the urine as
-vanillylmandelic acid (VMA)
-homovanillic acid (HVA)
What genetic defect is characterized by intrauterine growth retardation, muscular hypotonia, simean crease, slanting palpebral fissures, clinodactyly of 5th fingers
Trisomy 21
What genetic defect is characterized by prenatal growth failure, barrel chest, index and fifth fingers overlap middle fingers, rocker bottom feet, umbilical hernia
Trisomy 18
What genetic defect is characterized by intrauterine growth retardation, seizures, microcephaly, rocker bottom feet, cleft lip and palate
Trisomy 13
What does this picture demonstrate
Air filled cysts in lower portion of left hemithorax that are continuous with air-filled cysts of bowel. This represents a left-sided diaphragmatic hernia.
What’s the difference between a left-sided and a right-sided diaphragmatic hernia?
Left-sided hernias are more common, make up 65-80% of congenital diaphragmatic hernia (CDH)
Left-sided associated more often with pulmonary hypoplasia, since bowel, spleen, and left liver lobe can herniate through. Right-sided less often, since liver can obstruct penetration
Left-sided presents as severe respiratory distress while right-sided may not be apparent until days or months after birth