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52 Cards in this Set

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Clinical Features of Kleinfelter's Syndrome
•Male hypogonadism in the presence of at least two X chromosomes and one or more Y chromosomes (XXY, XXXY, etc.)

•Testicular Atrophy
•Sterility
•Eunuchoid with gynecomastia and reduced facial, body and pubic hair
Turner's Syndrome
•One X chromosome absent or severely damaged

•Short Stature
•Streak ovaries, infertility, ammenorrhea
•Broad chest, widely shaped nipples
•Low posterior hairline
•Webbing of neck
•Coarctation of aorta
•Cubitus valgus
•Peripheral lymphedema at birth
•Pigmented nevi
Causes of Potter Sequence
Oligohydramnios due to:

•Renal agenesis/maldevelopment
•Amniotic fluid leak
•Uteroplacental insufficiency
Features of Potter Sequence
Oligohydramnios causes:

•Pulmonary hypoplasia
•Amnion nodosum
•Fetal compression (worsens pulmonary hypoplasia, breech presentation, altered facies, positioning defects of feet and hands)
Clinical Features of Hyaline Membrane Disease (ARDS)
•Usually appear normal at birth
•Within few minutes to hours develop a labored, grunting respiration that progressively worsens
•Display X-ray image of ground glass alternations of lungs
Morphology of Hyaline Membrane Disease (ARDS) at 12-24 hrs
•Smooth homogenous pink membranes lining terminal and respiratory branchioles and alveolar duct
•Membranes are composed of necrotic type II pneumocytes and fibrin. Neutrophil inflammatory reaction is not associated with these membranes

Grossly:
•Normal lungs in size
•Solid, airless and reddish-purple
•Resemble liver
Morphology of Hyaline Membrane Disease (ARDS) after several days
•Proliferation of type II pneumocytes
•Interstital fibrosis
Morphology of Bronchopulmonary Dysplasia
•Alveolar hypoplasia (decrease in number of mature alveoli)
•Hyperplasia and squamous metaplasia of bronchial epithelium
•Peribronchial fibrosis
•Fibrotic obliteration of bronchioles
•Over distended alveoli
Neonatal Necrotizing Enterocolitis Clinical Features
•Preterm or SGA infant with history of asphyxia requiring ventilation develops signs of obstruction after oral feeding begins
•Abdominal distension
•Bloody Stools
•Shock
•DIC
•Progresses to death

Diagnosis
•Abdominal radiographs show distended loops of bowel
•Pneumatosis intestinalis
Morphology of Neonatal Necrotizing Enterocolitis
Microscopy:
•Mucosal coagulative necrosis extending into and through submucosa and muscular layers
•Small air filled spaces beneath mucosa (pneumatosis intestinalis)

Gross:
•Involved bowel distended with thin and delicate wall showing spotty areas of necrosis and possible perforation
•Typically involves terminal ileum, caecum and right colon
Neonatal Intravascular hemorrhage
•Bleeding into germinal matrix with extension into ventricles and beyond
Kernicturus
•Bilirubin encephalopathy
•Very high levels of unconjugated bilirubin bind to and injure immature neurons of CNS

•Characterized by bile staining of brain, particularly in basal ganglia and brain stem
Hydrops Fetalis at autopsy
Gross:
•Hepetosplenomegaly
•Bile stained organs

Microscopically
•Erythroblastic hyperplasia of the bone marrow
•Extramedullary hematopoeisis in the liver and spleen
Diagnosis of Hydrops Fetalis
•Amniocentesis - high levels of bilirubin
•Positive human antiglobulin test on fetal cord blood

Therapy:
•Phototherapy to break down bilirubin
•Exchange transfusion of neonate blood

Prevention:
•Human anti D globulin within 72 hours of delivery
Crigler-Najjar Disease
Type I (recessively inherited)
•Complete absence of UDP-glucoronyltransferase activity
•Unconjugated hyperbilirubinemia leading to bilirubin encephalopathy (remember, neonate BBB is immature)

Type II
•Partial decrease in UDP-glucoronyltransferase activity
•Hepatocytes can synthesize this enzyme on treatment with phenobarbital
Clinical Features of Embryonic/Fetal Type of Biliary Atresia
•Early onset neonatal cholestasis
•No jaundice free period after physiologic jaundice
•Associated congenital anomalies (malrotation of abdominal viscera, congenital heart disease)
•Due to aberrant intrauterine development of the extrahepatic biliary tree
Clinical Features of Perinatal Type of Biliary Atresia
•Normally developed biliary tree is destroyed following birth (virus induced injury to biliary epithelium)
•Late onset neonatal cholestasis
•Jaundice free interval
•No associated congenital anomalies
Morphology of Biliary Atresia
•Inflammation and fibrosing structure of hepatic and common bile ducts
•Periductular inflammation of intrahepatic bile ducts; progressive destruction of intrahepatic biliary tree
•Features of the extrahepatic biliary obstruction: marked bile ductular proliferation, portal tract edema and fibrosis, parenchymal cholestasis
Morphology of Idiopathic Neonatal Hepatitis
•Giant cell transformation (diffuse and prominent)
•Ballooning of hepatocytes
•Acidophilic necrosis/degeneration
•Cholestatis
•Scattering of inflammatory cells as well
Clinical Features of Idiopathic Neonatal Hepatitis
•Jaundice
•Dark Urine
•Hepatomegaly

Prognosis is good (75-90% survive)
Features in SIDS
•Petechiae on surface of lungs, pleura, heart and thymus
•Gliosis of brain stem (chronic hypoxia)
•Medial Hypertrophy of small pulmonary arteries
•Right ventricular hypertrophy
•Extramedullary hematopoeisis
Clinical Features of Idiopathic Neonatal Hepatitis
•Jaundice
•Dark Urine
•Hepatomegaly

Prognosis is good (75-90% survive)
Features in SIDS
•Petechiae on surface of lungs, pleura, heart and thymus
•Gliosis of brain stem (chronic hypoxia)
•Medial Hypertrophy of small pulmonary arteries
•Right ventricular hypertrophy
•Extramedullary hematopoeisis
Common Clinical Manifestations of TORCH Infections
•SGA Infants
•CNS changes (hydrocephalus, microcephaly, periventricular calcification)
•Chorioretinitis
•Pneumonitis
•Petechiae
•Hepatomegaly with Jaundice
•Splenomegaly
•Bony changes that resemble osteomyelitis
Clinical Manifestations of Rubella Embryopathy
Typical TORCH Manifestions:
•SGA Infants
•CNS changes (hydrocephalus, microcephaly, periventricular calcification)
•Chorioretinitis
•Pneumonitis
•Petechiae
•Hepatomegaly with Jaundice
•Splenomegaly
•Bony changes that resemble osteomyelitis

And:
•Ocular Lesions (cataracts, corneal changes, microphthalmia)
•Cardiac Lesions (patent ductus arteriosus, septal defects)
Morphology of CMV Infections
•Cowdry Type A bodies
•Intranuclear and cytosolic inclusion bodies
Morphology of Herpes Infections
Cytoplasmic inclusions
Morphology of Cystic Fibrosis
Lung:
•Obstruction of bronchioles with mucus, marked hyperplasia and hypertrophy of the mucus secreting cells
•Wall of bronchioles is damaged

Pancreas:
•Secondary dilation and cystic changes of the distal ducts and atrophy of secretory cells
•Fibrosis
•Destruction of parenchyma
•No exocrine pancreas (basophilic appearance) in CF. Replaced with fat tissue and fibrosis
Syndromes Caused by Cystic Fibrosis
•Atelactasis
•Emphysema due to parenchyma destruction

Infections result in:
•Chronic Bronchitis
•Bronchiectasis
•Lung Abscesses
Clinical Features of Cystic Fibrosis
Child presents with
•Foul-smelling steatorrhea
•Malnutrition (edema and hypoalbuminemia)
•Failure to thrive

Later on:
•Upper resp. and sinus problems
•Pulmonary disease (chronic cough, obstructive pulmonary disease, recurrent pulmonary infections)

Clinical clues:
•Nasal polyps
•Rectal prolapse
Clinical Features of Phenylketonuria
•Affected infant is normal at birth
•Mental retardation develops within a few months
•Tend to have fair skin, blond hair, blue eyes
•Mousy odor of urine

Treatment: restriction of phenylalanine in diet
Clinical Features of Galactosemia
•Hepatosplenomegaly
•Jaundice
•Hypoglycemia
•Cataracts
•Mental Retardation
Morphology of Galactosemia
•Fatty change in liver (fat accumulation in hepatocytes)
•Bile duct proliferation
•Cholestasis
•Fibrosis
•Cirrhosis may develop in a few months

Galactose-free diet reverse many of these changes
Morphology of Dubin-Johnson Syndrome
•Accumulation of coarse, iron-free, dark brown granules in hepatocytes and Kupffer cells
•In electron microscopy, the pigment is in lysosomes and appears to be made of epinephrine metabolites, not bilirubin pigment.
•Pigment runs in lines
•Iron stains are negative
•Grossly, liver will be black
Clinical Features of Dubin-Johnson Syndrome
•Most patients are asymptomatic except for mild intermittent jaundice
•Serum bilirubin levels are 2-5 mg/dl
Clinical Features of Rotor Syndrome
•Jaundice
•Intermittent epigastric discomfort
•Occasional abdominal pain
•Fever
Morphology of Rotor Syndrome
•Low-grade pigment deposition
•Dissociation of liver cells
•Occasiona necrotic foci
•Fibrin precipitation
Small, Round, Blue Cell Tumor Appearance
•Relatively homogeneous, densely cellular appearance
•Tumor cells characterized by small size, lack of cytoplasm, dark round, nuclei which stain dark blue in H&E
•High nuclear:cytoplasmic ratio
Morphology of Rhabdomyosarcoma
•Stain with desmin (will be positive)
•Will have pink cytosol that can form myotubes with cross striations
Clinical Features of Neuroblastomas
Less than two years:
•Mass in abdomen, mediastinum or other sites
•Weight loss
•Fever

Older Children:
•Signs of metastatic disease (bone pain)
•Resp. or GI Symptoms
•Blueberry muffin baby - disseminated neuroblastoma. Multiple cutaneous metastasis with deep blue discoloration of skin
Gross Appearance of Neuroblastomas
•40% arise in adrenal medulla
•Remainder arise anywhere along sympathetic chain (paravertebral abdomen, post. mediastinum)
•With increasing size, areas of necrosis, hemorrage, cyst formation
•Gross calcification in 40-50%
Morphology of Neuroblastomas
•Small, round, blue cell tumor with sheets small, primitive-appearing cells with dark nuclei, scant cytoplasm, and poorly defined cell borders
• Neuropil - a faintly eosinophilic fibrillary material that corresponds to neuritic processes of the primitive neuroblasts.
• Homer-Wright Pseudo rosettes - the tumor cells are concentrically arranged about a central space filled with neuropil. No lumen.
•Neurosecretory granules on electron microscopy.
• (+) for neuron-specific enolase and synaptophysin
on immunohistochemistry.
Diagnosis of Neuroblastomas
•Elevated levels of catecholamines
•Elevated levels of catecholamine metabolites (VMA, HVA)
•X-ray tumor - look for calcifications in tumor
Clinical Features of Beckwith-Wiedemann Syndrome
Increased risk of Wilms tumor. Due to mutation in WT2 gene.

Features:
•Macroglossia
•Omphalocele
•Gigantism
•Adrenal cortical cytomegaly
•Visceromegaly
•Islet cell hypertrophy
•Renal medullary dysplasia
Denys-Drash Syndrome
•Gonadal Dysgenesis (malformed)
•Renal abnormalities
•WT-1 gene mutation
•90% chance of Wilms tumor
Aniridia (WAGR syndrome)
•WAGR is Wilms tumor, Aniridia, Genitourinary anomalies and mental Retardation
•33% chance of Wilms tumor
Gross Morphology of Wilms Tumor
•Majority are large, solitary, well circumscribed masses
Cut surface reveals soft, homogeneous, tan to gray with occasional foci of necrosis and hemorrhage
Morphology of Wilms Tumor
•Triphasic pattern: Embryonal tumor: recapitulates the normal development of the kidney.
• Blastema – sheets of small round blue cells
• Stroma – fibrocytic or myxoid in nature. May have striated muscle.
• Epithelium - abortive tubules and glomeruli

Anaplastic Subtype has:
•Cells with hyperchromatic nuclei, 3 times larger than those in adjacent cells of similar type
•Enlarged, bizarre, mutipolar mitoses
Clinical Presentation of Wilms Tumor
•Detection of abdominal mass on child
•Abdominal pain
•Hematuria
•Hypertension
•Avute abdominal rupture secondary to traumatic rupture
Clinical Presentation of Retinoblastoma
•White pupil (leukocoria)
•Squint (strabismus)
•Poor vision
•Spontaneous hyphema (hemorrhage into anterior portion of eye)
•Red, painful eye
Morphology of Retinoblastoma
•Small round cells with large hyperchromatic nuclei and scant cytoplasm
•Flexner-Wintersteiner Rosettes: clusters of cuboidal tumor cells around a central lumen
Gross Appearance of Teratomas
•Can see various organs in the tumor
•Buttock enlargement or midline protuberence