Sunday, February 12, 2006 - 7:30 PM
Prior to this Annual Meeting, slides and case histories for this Specialty Conferences were posted below so they may be reviewed in advance. During the meeting, the slides and protocols were also available for study in the microscope room (Chicago B - F Room) for participants who wished to review them prior to the evening session. Click here for the handout from this conference.
Click on each slide thumbnail image for an enlarged view
Sara O. Vargas
This 7-year-old girl presented with a painless nontender swelling of the left labium majus that had been apparent for one year. The area was soft without overlying skin discoloration, and although no distinct mass was palpable, the left labium majus was clearly larger than the right. Breasts were Tanner stage 1, and there were no early pubertal signs. Serum FSH, LH, and estradiol levels were within normal limits. The abnormality was followed for 6 months and appeared to enlarge. Ultrasound examination failed to reveal a discrete mass, and the sonographic changes were described as "extra soft tissue." MRI showed a somewhat circumscribed area (low in signal intensity on T1-weighted images, high in signal intensity on T2-weighted images, and enhancing fairly homogeneously with gadolinium) measuring approximately 4 x 2 x 2 cm. Given the concern for possible malignancy, surgical excision was performed. In the operative report the surgeon stated, "There was no clear definable mass." The tissue was described as fatty and likened to a lipoma. There was no inguinal hernia.
Children's Hospital Medical Center
A 2665-gram female infant was delivered vaginally at 36 weeks of gestation to a 24 year-old gravida IV para II Caucasian mother and her 41 year-old African American father. Prenatal care had been sporadic, but maternal laboratory values were normal. The family history was negative for any inheritable disorders and there was no history of renal or ophthalmologic problems. The pregnancy was remarkable for an abnormal fetal ultrasound at 28 weeks which revealed large, hyperechoic kidneys. At the 36 week visit, another ultrasound showed a decreased bio-physical profile (5/10) and a decreased amniotic fluid index, prompting induction of labor. Delivery was uneventful with Apgar scores of 7 and 8 at one and five minutes, respectively. On initial newborn exam, the patient had slightly decreased muscle tone but intact reflexes. Moreover, she was found to have bilateral microcoria, ie.- pinpoint pupils, prompting a maternal drug screen which was positive only for caffeine. No other dysmorphology was noted.
On day of life 3, the patient was noted to have slight edema of her legs and left eyelid. After initially doing well, she started to feed poorly, taking only 10 milliliters per feeding. Meconium drug screen was also negative.After further inquiry revealed the abnormal prenatal ultrasound findings, a renal profile was obtained, showing hyponatremia (129 mmol/dL) and renal insufficiency (creatinine of 2.7 mg/dL). A follow-up renal ultrasound was obtained which confirmed bilaterally enlarged hyperechoic kidneys. Because of the patient's renal failure, she was transferred with a suspected diagnosis of autosomal recessive polycystic kidney disease.
Laboratory evaluation after transfer showed significant proteinuria (>300 mg/dL on dipstick), hypoalbuminemia (1.5 gm/dL) and persistent renal dysfunction (creatinine of 2.9 mg/dL), leading to the diagnosis of Congenital Nephrotic Syndrome with renal failure. Abdominal and pelvic ultrasound revealed a normal liver and spleen, the aforementioned enlarged hyperechoic kidneys with loss of corticomedullary differentiation, and normal ovaries and uterus. A head ultrasound was normal, as well. CMV antigen was undetectable, and there was no other evidence of TORCH infections. High resolution chromosomal analysis showed a normal XX karyotype. Pediatric ophthalmology consultants found continued pupillary constriction despite dilating drops and persistent hyperplastic primary vitreous of the right eye. The patient was noted to be moderately hypertensive with blood pressures >120/ 80 in all four extremities, requiring multiple anti-hypertensive medications to control. She was also dependent on intravenous albumin and furosemide for edema management. An open renal biopsy was performed at 3 weeks of life.
Megan K. Dishop
Texas Children's Hospital
3 month old full term Hispanic infant girl with severe interstitial lung disease. She was delivered by Cesarean section after an uneventful pregnancy and had no perinatal complications, discharged on the fourth day of life. She presented initially at 10 weeks of age with respiratory distress including nasal flaring, retractions, tachypnea, and hypoxia. She was afebrile without cough and there were no concurrent illnesses in family members. Chest x-ray showed bilateral interstitial infiltrates with consideration of bronchiolitis versus bilateral pneumonia. Chest CT showed diffuse ground-glass appearance consistent with interstitial infiltrates or alveolitis. She received a two-week course of antibiotics and also steroids, bronchodilators, and supplemental oxygen during her course, but her respiratory status continued to deteriorate. Other evaluation included an esophagram showing frequent episodes of gastroesophageal reflux, normal echocardiogram, negative HIV serology, negative cystic fibrosis mutation analysis, and a bronchoalveolar lavage with increased lipid-laden macrophages and negative cultures. One month after initial presentation, she underwent an open lung biopsy (see images).
Theodore J. Pysher
Primary Children's Medical Center
Salt Lake City, UT
A percutaneous renal biopsy was performed in an adolescent female with nephrotic range proteinuria.
A 19 year old Caucasian female was referred for evaluation of proteinuria that was discovered in the course of a routine physical examination. She had not noticed facial or extremity edema, skin rash, joint pain or swelling, or discolored urine. She was overweight, complained of intermittent heartburn, and was being treated for obstructive sleep apnea. Neither the patient nor her family members had hearing problems, and there was no family history of renal disease, but both parents were on antihypertensives. Physical examinations on several occassions were remarkable only for pulse rates that ranged from 100-108/minute, blood pressures that ranged from 126/65-150/90 Torr, and height at the 50th percentile for age but weight greater than the 95th percentile with a body mass index of 40 kg/M2.
Urinalyses showed 3+-4+ protein and negative or trace blood, the protein:creatinine ratio ranged from 0.49-1.67 (expected <0.2), and a timed urine collection revealed 2.3 grams of protein/24 h and a creatinine clearance of 85 mL/min/1.73 M2. Abnormal laboratory studies included cholesterol 233 mg/dL, triglycerides 246 mg/dL, LDL cholesterol 141 mg/dL, non-fasting glucose levels that ranged from 87-136 mg/dL, and alanine aminotransferase 58 IU. Normal studies included blood urea nitrogen, creatinine, total protein, albumin, sodium, potassium, chloride, total bicarbonate, calcium, inorganic phosphate, complete blood count, C3 and C4 complement levels, anti-nuclear, anti-smooth muscle and anti-neutrophil cytoplasmic antibodies, hemoglobin A1C, thyroid stimulating hormone, and serologic studies for hepatitis A, B and C.