Peds Flashcards
VACTERL associated with what in mothers
Diabetes
VACTERL
Nonsyndromic constellation of: Vertebral anomalies (hemivertebrae), anal atresia, cardiovascular anomalies (VSD), TE fistula, renal anomalies (obstruction), limb defects (radius, thumbs)
Scimitar syndrome is
Hypoplastic right lung and anomalous right pulmonary venous connection to IVC. AKA hypogenetic lung syndrome or congenital pulmonary venolobar syndrome.
Often anomalous systemic arterial supply to the right lung.
Intralobar vs extralobar sequestration
Intra: no separate pleura, usually drains via pulmonary veins. Extra: own pleura, systemic venous drainage, 65% association with other anomalies.
Both- abnormal lung that doesn’t communicate with the bronchial tree, has systemic arterial supply
Acute chest syndrome is
Air space opacity, pain, leukocytosis, & fever in a patient with sickle cell. Highest incidence 2-4 year olds
Meconium aspiration lung volumes
Increased. Linear densities emanating from hila in full term infant. Frequent air leak if ventilated. Pleural effusion uncommon.
Esophageal atresia with TE fistula on a babygram… think of what?
VACTERL, especially if renal anomalies too.
Most common presentation?
Recurrent pneumonia.
Sequestration- congenital area of abnormal lung that does not communicate with the bronchial tree, has a systemic blood supply
Newborn infant with respiratory distress.
DIagnosis and key xray findings.
Meconium aspiration.
Linear densities emanating from the hila and increased lung volumes.
Most common in term infants with in utero or intrapartum stress.
Treatment of meconium aspiration.
Complications?
Suction, ventilation, abx, surfactant, inhaled nitrous oxide.
Pulmonary hypertension, complications of vent (incl pneumothorax, PIE, etc)
Pleural effusion in meconium aspiration- common or uncommon?
Uncommon
Most common posterior mediastinal malignancy in kids and classic imaging findings.
Neuroblastoma
Calcifications, widening of the neural foramina. Skin mets appear as “blueberry muffin” lesions, periorbital lesions can cause “racoon eyes.”
Urine catecholamines elevated in 95%.
Diagnosis.
What other locations can it be seen?
What age patients have the best prognosis?
Neuroblastoma.
Arises from neural crest cells in the adrenal gland, retroperitoneum, or posterior mediastinum.
Best prognosis if diagnosed under 1 year.
Cause of congenital diaphragmatic hernia.
Complications and association?
Failure of pleuroperitoneal folds to form/close in second month of gestation.
Pulmonary hypoplasia, leading to pulmonary HTN, hypoxemia, and acidosis.
Strong association with malrotation.
Peds patient with cough, night sweats, adenopathy on CXR.
Diagnosis, CT findings? Differential?
TB.
Miliary nodules, hilar adenopathy.
Other granulomatous disease.
Other manifestations include meningitis, osteomyelitis, arthritis.
Diagnosis?
Congenital pulmonary adenomatous malformation.
Presents as mass lesion containing several large cysts or multiple small cysts, rarely can appear solid.
Types of CPAM?
Type 1- large cyst(s) > 2 cm.
Type 2- numerous small cysts.
Type 3- appears solid.
What is a CPAM?
A hamartoma consisting of abnormal terminal bronchiolar proliferation with a relative paucity of alveoli.
Bronchial communication present congenitally.
Small risk for malignant transformation.
Xray findings of viral bronchitis?
Vs. pneumonia?
Hyperinflation with patchy atalectasis (esp perihilar) and interstitial opacities. Most common pathogens - rhinovirus, RSV, parainfluenza virus.
Pneumonia typically more focal airspace disease, more likely to have pleural effusion.
What is Swyer-James syndrome?
How is it different than congenital lobar emphysema?
Smal, hyperlucent (due to decreased perfusion) lung that has a small hilum and exhibits decreased perfusion and ventilation with air trapping.
In CLE, the larger lung is hypolucent and has the abnormal ventilation.
Diagnosis?
Cause?
Swyer-James.
Likely due to adenoviral or other infection causing bronchiolitis obliterans before the age of 8 years (when all alveoli have formed).
Most common symptomatic vascular ring?
Double aortic arch. Right arch chrosses behind the esophagus to join the descending aorta.
Diagnosis?
Cause?
Pulmonary interstitial emphysema. Bubble-like lucencies radiating from the hila. Typically occurs within the first week of life.
Ventilation -> collections of air in the peribronchial and perivascular spaces. Complications = pneumo.
Pulmonary sling is?
Associated with?
Anomalous origin of the left pulmonary artery arising from the right pulmonary artery. The only relatively common vascular anomaly that lies between the trachea and esopahgus (causes impression on the anterior aspect of the esophagus). Can also cause hyperinflation of right lung.
Tracheomalacia, complete tracial rings, and congenital heart disease.
Which vascular sling causes an impression on the anterior esophagus?
Pulmonary sling (LPA arising from RPA).
What cardiac anomalies are associated with coarctation of the aorta?
Non-cardiac anomaly?
Bicuspid aortic valve, VSD, PDA, mitral stenosis.
Also increased incidence of cerebral aneurysms.
Ebstein anomaly - clinical and xray presentation?
Massive cardiomegaly with diminished pulmonary vascularity. Cyanosis and/or heart failure.
Displacement of tricuspid valve into RV with atrialization of the RV and tricuspid insufficiency.
What is Lemierre syndrome?
Most common bug?
Infection of the lateral pharyngeal space and septic thrombosis of the jugular vein, which may be complicated by septic pulmonary emboli. Most common in children and young adults. Suppurative infection spreads from the alteral pharyngeal space into the carotid sheath.
Most common bug- Fusobacterium necrophorum, an anaerobe normally present in the oral cavity.
Cause of bronchogenic cysts?
Imaging appearance?
Abnormal ventral budding of the traceobronchial tree early in gestation. Surgical resection recommended due to risk of infection.
Often in the middle mediastinum, but can be found within the lung parenchyma. Water to proteinaceous density. Thin wall that is either nonenhancing or minimally enhancing (if thick/enhancing, think infection).
(vs esophageal duplication cysts- typically intramural, in the posterior mediastinum, neurenteric cyst- posterior mediastinum)
What is the most common cause of laryngeal tumors in children?
Papillomatosis (perinatal transmission of HPV virus). Can also see lung nodules, mostly in the posterior lower lobes. Small risk of degeneration to SCC.
Can a duplication cyst increase in size over time?
Yes, ones that contain gastric or pancreatic tissue may secrete mucus, causing them to increase in size. Acid secretion can cause mucosal inflammation, hemorrhage, and perforation. Some duplication cysts may communicate with bowel.
Infant with heart failure. Diagnosis?
What is this?
Hemangioendotheliomatosis.
Solitary or multiple benign, endothelium-lined vascular mass(es) in the liver (look like adult hemangiomas). May cause A-V shunting. 75% present < 6 months with hepatomegaly, high-output CHF, consumptive coagulopathy (Kasabach-Merritt syndrome = coagulopathy caused by any vascular tumor). Many patients have cutaneous hemangiomas. Caliber of aorta may decrease after liver. The lesions usually inovlute spontaneously over months to years.
Diagnosis?
Cause?
Hirschprung disease.
Failure of migration of neural crest cells leads to absence of the myenteric plexus of all or part of the colon. This causes hypertonicity and obstruction. Always involves the anus and continues proximally. Dilated colon proximal to the transition zone. Total colonic Hirschprung can appear as a microcolon.
More common in males. Isolated anomaly in 70%, but 10-15% have Down syndrome.
Diagnosis?
How is this different from meconium plug?
Meconium ileus - abnormally thick meconium obstructs the distal ileum. Almost all patients have CF. Can lead to perforation and meconium peritonitis. Causes severe microcolon.
vs
Meconium plug syndrome - functional colonic obstruction - meconium plugs found in the colon. Often there is a transition point at the splenic flexure with dilated colon more proximally (aka small left colon syndrome).
5 year old female. What is the most likely diagnosis?
In what other locations can this be seen?
Rhabdomyosarcoma - a malignant small round blue cell tumor with skeletal muscle morphology (doesn’t arise from muscle, differentiates to resemble it). The most common soft tissue tumor in children, peak age 2-5 years. Rapidly growing tumors, cause significant mass effect.
May occur anywhere in the body, but the head/neck is the most common site. In the pelvis, it may originate from the bladder, vagina, uterus, prostate, or paratesticular tissue. Indistinguishable from other sarcomas on imaging, but demographic/location is a clue.
Diagnosis?
Cause?
Meconium pseudocyst.
Caused by in utero perforation with peritoneal leakage of meconium, which becomes walled off. Look for the cause of perforation, such as meconium ileus, intestinal obstruction, or in utero volvulus.
Diagnosis?
Cause?
Associated findings?
Duodenal atresia. The most common site of GI atresia, presents in the 1st 24 hours of life with bilious vomiting.
Failure of recanalization of the duodenum after the endodermal proliferation that occurs at 8 weeks gestation.
~1/2 have associated anomalies: Down syndrome (30%), annular pancreas, malrotation, congenital heart disease, esophageal atresia, 11 pairs of ribs.
Diagnosis (look at vessels)?
Complication?
Associations?
Malrotation. Relationship of SMA and SMV is abnormal- the SMV is normally anterior and to the right of the SMA.
Volvulus occurs secondary to a short mesenteric attachment of the gut to the posterior abdominal wall, which serves as a pedicle for twisting. (note- nonrotation is less likely to have volvulus than malrotation) Ladd bands - congenital adhesions - may cause duodenal obstruction.
Present in nearly all patients with congenital diaphragmatic hernia, gastroschisis, and omphalocele. Also associated with duodenal atresia.
Diagnosis?
Cause?
Necrotizing enterocolitis.
Due to gut prematurity, a combination of intestinal ischemia and infection. Treatment is antibiotics and withholding feedings.
Most likely diagnosis?
Appearance on MAG3 scan?
Treatment?
Differential?
Multicystic dysplastic kidney. Multiple noncommunicating cysts with no functioning renal tissue. Due to ureteral atresia or in utero UPJ obstruction (so can be segmental in duplicated kidneys!).
No uptake on MAG3 renal scan.
Serial monitoring for complications. Only cases with complications are resected. Half involute by age 7. 40% have contralateral renal anomalies.
Differential includes hydronephrosis (largest cyst usually in the middle, communicating, some function on nuc med scans), cystic Wilms tumor, multilocular cystic nephroma (usually doesn’t involve entire kidney).
Diagnosis?
Epidemiology?
Treatment?
Multilocular cystic nephroma.
Benign nonhereditary neoplasm. Most common in infant/toddler boys (not usually seen at birth) and women over 40.
Treatment - complete or partial nephrectomy. Also do lymph node resection. Local recurrence possible. May see enhancement of septae. (can be difficult to differentiate from Cystic wilms in kids and multilocular clear cell RCC in adults!)
4 year old. Diagnosis?
Complication?
Associations?
Nephroblastomatosis. Multiple small, solid, homogeneous renal masses (hypo-iso on US, low attenuation on CT, enhance less than normal renal tissue). Can also appear as subcapsular rind of soft tissue (below).
Most cases spontaneously regress by age 7, but 1/3 can develop Wilms tumor. Screen every 3 months.
Can be seen in patients with certain syndromes: hemihypertrophy, Beckwith-Wiedemann, trisomy 18, sporadic aniridia.
Neonate. Diagnosis?
What is this?
Mesoblastic nephroma (aka fetal renal hamartoma). 80% of cases reported within the first month of life. Looks like a Wilms tumor but in a neonate.
A mesenchymal tumour. Histologically, it is typically composed of connective tissue growing between nephrons, usually replacing most of the renal parenchyma. A solid, unencapsulated mass which often occurs near the renal hilum tends to invade the surrounding structures and renal parenchyma. Most are benign, get nephrectomy.
3 year old child. Diagnosis?
Most common location for mets?
Approx what percent are bilateral?
Wilms tumor. The most common solid abdominal malignancy of childhood, median age is 3 years, arises from persistent metanephric blastema.
Lungs (vs neuroblastoma- bone).
10%.
6 month child. Diagnosis?
Other imaging features?
Lab finding?
Associations?
Hepatoblastoma. The most common primary liver tumor under the age of 4, of embryonic origin.
US- large, hypervascular hypoechoic mass. CT- usually solitary heterogeneous hypoattenuating mass. MRI - T1 hypo T2 hyper, heterogeneous enhancement.
Serum alpha-fetoprotein usually elevated.
Associations with: Beckwith-Weidemann, hemihypertrophy, FAP, fetal alcohol syndrome, Gardner syndrome, glycogen storage disease, biliary atresia.
Diagnosis?
Bezoar.
Rapunzel syndrome - a trichobezoar (hair) extending from the stomach into the duodenum.
What is Morquio syndrome?
A rare autosomal recessive mucopolysaccharidosis, type IV. Results in excess of Keratan sulphate, which accumulates in various tissues. Normal intelligence.
Radiographic features:
Spinal: platyspondyly (flattened vertebral bodies), central anterior vertebral body beaking (Hurlers and other MPS have beaking anteroinferiorly), atlanto-axial subluxation, os odontoideum.
Calvarial: hypertelorism, dolichocephaly (premature closer of saggital suture impedes lateral growth, causes long narrow head, aka scaphocephaly).
Limbs: metaphyseal flaring in long bones, wide metacarpals with proximal pointing, irregular carpal bones, short and wide tubular bones, genu valgum.
Pelvis: coxa valga, goblet shaped flared iliac wings, increased acetabular angles.
Sternum and chest: anterior sternal bowing, increased AP chest diameter, wide ribs.
Clinical presentation: very short stature (<4 ft), corneal clouding, progressive deafness, prominent mandible and lower face, +.
Newborn. Diagnosis?
Association?
Autosomal-recessive polycystic kidney disease. Enlarged kidneys with poor corticomedullary differentiation and a relatively hypoechoic peripheral renal cortex. Related to ectasia of the distal nephrons, associated with flattening of the epithelium. Defective fibrocystin gene on chromosome 6.
Associated with congenital hepatic fibrosis. Long-term survival requires both liver and kidney transplants.
(note- a milder form does exist which presents later in childhood, hepatic disease tends to dominate)
No enhancement or internal flow. Diagnosis?
Associations?
Lymphatic malformation - cystic hygroma (name when in the head and neck).
Associated with Turner syndrome, Down syndrome, Noonan syndrome, coarctation of the aorta, and more.
Teenage girl with primary amenorrhea. Diagnosis?
Causes?
Association?
Hydrometrocolpos (really hematometrocolpos). Menstruation into an obstructed vagina or uterus. If gets large enough, can cause symptoms due to mass effect. Can also present in neonatal period as a pelvic mass because of maternal hormone stimulation.
May be secondary to imperforate hymen, vaginal septum/stenosis/atresia, or cervical stenosis.
Associated with Mullerian duct anomalies, such as uterus didelphys.
Diagnosis?
Probable demographic?
Choroid plexus papilloma or carcinoma (cannot reliably differentiate by imaging, 5% are malignant). Most common location is the atria of the lateral ventricles. Can also occur in the 4th ventricle, however ependymoma and medulloblastoma are more common tumors of the 4th ventricle. 25% have calcifications.
Most patients present before age 5, morre common in males.
Patient with seizures. Diagnosis?
Classic clinical triad?
Tuberous sclerosis (these are the subependymal nodules). Multiorgan hamartomas caused by a spontaneous or inherited tumor suppressor gene defect.
Classic clinical triad- facial angiofibromas, mental retardation, and seizures.
An enlarging subependymal nodule at the foramen of Munro raises suspicion for supependymal giant cell astrocytoma.
15 male. Diagnosis?
What is this?
Treatment?
Juvenile nasopharyngeal angiofibroma (JNA).
A benign but aggressive nasopharyngeal tumor, seen in 10-20 year old males. Nonencapsulated hypervascular mass- avoid outpatient biopsy- can cause life threatening hemorrhage!
Treatment- surgical resection with preop embolization and/or steroids to minimize blood loss. 25% recur.
5 year old boy with learning disabilities and gait abnormality. Diagnosis?
What is this?
X-linked adrenoleukodystrophy.
An x-linked disorder of peroxisome metabolism affecting myelin formation and stabilization. 5-10 year old boys. Present with behavioral/learning difficulties, hearing/vision problems, gait abnormalities, and signs of adrenal insufficiency.
Symmetric and confluent myelin degeneration, beginning in the occipital region and spreading anteriorly. Subcortical U-fibers are spared (helps differentiate from PRES). The leading edge of myelin degeneration tends to enhance.
4 year old child with headache and seizures following a viral illness. Diagnosis? Treatment?
Main differential?
Acute disseminated encephalomyelitis.
Treatment - steroids, immunoglobulin, and plasmapheresis.
Main differential is multiple sclerosis. Relapsing-remitting course (vs monophasic in ADEM).
Diagnosis?
Cause?
Imaging findings?
Differential?
Thanatophoric dysplasia. One of the most common lethal skeletal dysplasias (other OI type 2).
Mutation of the FGFR3 gene (same as the one that causes achondroplasia but different mutation).
See extremely short ribs with pulmonary hypoplasia, platyspondyly (flat vertebral bodies), and shortening of the long bones with “telephone recever” femora. Can be subdivided into type 1 (macrocephaly with frontal bossing, limb shortening, bell-shaped abdomen) and type 2 (clover-leaf skull with premature closure of sutures, straight femora).
Differential - achondroplasia (less severe shortening of ribs and long bones, no platyspondyly or telephone receiver femora, not lethal at birth), muchopolysaccharidoses (not lethal at birth, less severe dwarfism, vertebral beaking).
Diagnosis?
Cause?
Rickets. Cupping and fraying of the metaphyses, widening of the growth plates, osteopenia, and bowed legs.
Deficiency of vitamin D, calcium, or phosphorus. Most commonly seen in darker-skinned children, lactovegans, and persons with malabsorptive syndromes, chronic renal failure, or metabolic disorders.
Diagnosis?
Kohler disease. Repetitive microtrauma and AVN of the navicular (the last bone in the foot to ossify). More common in boys, peak age 5 years.
Note- irregular ossification of the navicular can be normal, so these patients should be symptomatic. The treatment is nonsurgical, with resolution of the symptoms in weeks and a normal appearance of the navicular in months.
Diagnosis?
Complication?
Slipped capital femoral epiphysis. Most common in obese males around the time of puberty.
20% develop AVN because blood supply to the femoral epiphysis is through the femoral neck.
Typical bony findings in leukemia?
What is a chloroma?
“Leukemic lines-“ radiolucent transverse metaphyseal bands around large joints (can get dense bands after therapy). Subperiosteal new bone formation. Focal destructive lesions. Diffuse sclerosis. Multiple flattened or biconcave vertebral bodies.
A localized tumor consisting of immature colloid cells, seen mainly in myeloid leukemia.
