ALL WGs (743)
BREAST (47)CARD (27)
CYTO (47)DERM (48)
DIGE (45)EM (19)
GYNE (49)H&N (75)
HAEMA (48)HEPAT (15)
INFE (17)NEPH (43)
NEUR (13)OPHT (14)
PEDI (42)PULMO (38)
SO-TI (31)THY (5)
URO (49)VARIOUS (16)

Select image server:


Criteria: PEDI Found: 42 cases
Sort cases: DateAuthorWorking group
Nr of cases to show
Case 1 - ecp25, Pediatric Pathology
Presented by: Peter Nikkels, Utrecht, Netherlands

First pregnancy of a non-consanguinous couple. Termination of pregnancy at 20 weeks GA because of suspicion of a skeletal dysplasia.
X ray 1X ray 2X ray 3slide 1 (HE)slide 2 (alc.bue pas)slide 3 (trichrome)slide 4 (trichrome)
Diagnosis & Comments [0]
Handout: Download
Case 2 - ecp25, Pediatric Pathology
Presented by: Tamas Marton, Birmingham, United Kingdom

Second pregnancy of a 29 years old Caucasian patient with one previous stillbirth at 23/40 weeks. History of PET and HELLP syndrome.

This pregnancy: IUD at 23/40 weeks, twin pregnancy, low platelets, proteinuria, elevated urates, and blood pressure. Intrauterine growth restriction.

Macro description: An ovoid dichorionic, diamniotic twin placenta, 106g with multiple small firm lesions on the cut surface, up to 20% of the total placental volume.

A representative placenta slide is presented.
Slide 1010203040506
Diagnosis & Comments [0]
Handout: Download
Case 3 - ecp25, Pediatric Pathology
Presented by: Sophie Patrier, Rouen, France

This is fourth pregnancy of a young non consanguineous couple. The 23 year-old-mother has one healthy 3 year-old girl and two spontaneous early abortions, all conceived with the same father. Ultrasound scan at 22 weeks of the current pregnancy showed polyhydramnios, hepatosplenomegaly, signs of moderate anemia and a large placenta.

Prenatal investigations revealed that the mother was toxoplasmosis and rubella immune, hepatitis B and human immunodeficiency virus negative, parvovirus B 19 and cytomegalovirus negative. Chromosomal analysis showed a normal karyotype, 46 XY.

Antenatal testing for lysosomal storage diseases on amniotic supernatant ruled out sialic acid storage diseases, mucopolysaccharidoses and GM1 gangliosidosis.

At 35 weeks of gestation, despite two evacuations of amniotic fluid, the patient delivered a baby boy weighing 2 730 g. Clinical examination showed hepatosplenomegaly. Biological testing displayed elevated transaminase, thrombopenia but no anemia. Prothrombin time was 15%. The bone marrow smear showed erythroblastosis.

The baby was transferred to the Neonatal Intensive Care Unit because of respiratory distress and died 5 days after birth of liver failure.

Post-mortem examination confirmed abundant ascites and severe hepatosplenomegaly: the spleen weighed 108 g (expected 7.35 +/- 2.25); the liver weighed 256 g (expected 120+/- 26). The lungs were not hypoplastic.

Three years later, the parents had a new baby, who is now 10. This boy has a mild hepatosplenomegaly and neurological disorders, consisting mainly of dysarthria, dystonia and cerebellar ataxia.
Slide 1 liver and spleenVirtual slideSlide 2 spleen (HE) Slide 3 spleen (HE) Slide 4 spleen (HE)Slide 5 liver (TRI)Slide 6 (TRI) liver
Slide 7 (TRI)Slide 8 liver (HE) Slide 9 liver (HE)
Diagnosis & Comments [0]
Handout: Download
Case 4 - ecp25, Pediatric Pathology
Presented by: Jukka Laine, Turku, Finland

The girl was born at 32 weeks of gestation, with oligohydramniosis and severe lung hypoplasia. The ultrasound showed a slight difference in the size of the kidneys, but no other remarkable findings. Despite intensive care the baby died at 7 hours of age, with respiratory insufficiency and anuria. Previously the mother had had three deliveries at 32-33 weeks of gestation and all babies had died within three days after the delivery, with similar symptoms as in the present case.
Slide 1Slide 2
Diagnosis & Comments [0]
Handout: Download
Case 5 - ecp25, Pediatric Pathology
Presented by: Irene Scheimberg, London, United Kingdom

40 year old primigravida with family history of autoimmune disease. Diagnosed with polymyositis. Not taking medication during pregnancy. CK 1200IU/L increasing to 2000IU/L at 31/40. IUD at 34/40. Small macerated female fetus 1847g (9th-25th centile) with moderate IUGR (B:L ratio 6). Placenta 403g (50th-75th centile). Pregnant again two years later, low dose steroids. Emergency Cesarean section at 31 weeks, infant 1550g (9th-25th centile), large placenta 433g (90th centile). First placenta showed a net-like white pattern; second placenta small hematomas and whitish areas
Placenta macroSlide 1Slide 2
Diagnosis & Comments [0]
Handout: Download
Case 6 - ecp25, Pediatric Pathology
Presented by: LucĂ­lia Carvalho, Lisbon, Portugal

First pregnancy of a young non-consanguinous couple.
Diagnosis of gestacional diabetes at 22 weeks of gestation.
Stillborn boy with breech presentation at 38th week, 4920g weighed. No external or internal malformations.
Large, thick and heavy placenta. Thick umbilical cord with single umbilical artery.

Representative placenta slides
Diagnosis & Comments [0]
Handout: Download
Case 7 - ecp25, Pediatric Pathology
Presented by: Luc Oligny, Montreal, Canada

The mother is G5P4A2. The slide provided is from the couple’s 5th pregnancy, which was medically interrupted, as were their other two abortions. Their two live born children are healthy.

The mother and her mother both suffer from dwarfism with disproportionately short limbs. The mother was at the 50th centile at birth, but fell to the 10th centile at 6 years of age, and to well below the 5th centile into adulthood. Her face, trunk, skin, hair, nails and teeth are normal. She suffered a femoral fracture at 9 years of age, but is otherwise healthy.

The mother’s diagnosis was suspected by radiography, and was confirmed molecularly. She elected to terminate the pregnancies of her affected children.

The slide provided is from a 15 week fœtus which was diagnosed to have a long-bone dysplasia, and the diagnosis was confirmed molecularly prior to interruption. A dilatation & curettage was performed. A section of femur was submitted.
Slide 1
Diagnosis & Comments [0]
Handout: Download
Case 8 - ecp25, Pediatric Pathology
Presented by: Jane Dahlstrom, Canberra, Australia

29 year old G1P0. Fetal abnormalities detected at 19 week morphology scan.
Figure 1Figure 2Figure 3
Diagnosis & Comments [0]
Handout: Download
Case 9 - ecp25, Pediatric Pathology
Presented by: L. Cesar Peres, Sheffield, United Kingdom

This was the second pregnancy of a 21-year-old healthy woman with intrauterine death of a 22-week fetus, which was induced. There were no concerns during antenatal care; however, she had a previous miscarriage at a similar gestational age few months before.

The present pregnancy was of a male fetus with consent for MRI post-mortem, genetic and metabolic testing only. The placenta was sent for examination as a separate specimen.

On external examination, it was noted moderate maceration and no dysmorphic features. The attached umbilical cord measured 5 x 0.4 cm, contained 3 vessels and presented a stricture at the fetal end measuring 1.2 cm in length and 0.3 cm in diameter.

Post-mortem MRI revealed normal brain development, with no abnormalities regarding sulcal and gyral pattern or neuronal migration. There were no pathological changes in the lung. The heart had four chambers, but detailed views of the heart were not obtained. There was normal appearance to liver, kidneys, adrenals, spleen, large and small bowel, stomach, bladder and spine.

Cytogenetics study from the placenta revealed a normal 46,XY karyotype and the skeletal survey was essentially normal.

The placenta was received fresh as a separate specimen. It was discoid in shape, weighing 161g (25th -50th centile) and measuring 12 x 11 x 1.6cm. The fetoplacental ratio was 2.2 (25th – 50th centile). The umbilical cord was brown in colour, had an eccentric insertion, measured 40cm in length, 0.8cm in diameter and contained three vessels. Total number of twists in whole length of cord submitted was 25, resulting in an umbilical cord coiling index of 0.62 coils/cm (normal range: 0.07 to 0.3 coils/cm). The membranes were complete, marginally inserted and normal in colour. The fetal surface was translucent and showed normal vascular arborisation. The maternal surface was intact and pale in colour. The cut surface had no focal lesions.
SS Case 9 - Peres
Diagnosis & Comments [0]
Handout: Download
Case 1 - ecp24, Pediatric Perinatal Pathology
Presented by: Carlos Galliani, Fort Wort, Texas, United States

A 3 year-old boy presented with a 2-month history of fever, weight loss, decreased oral intake, progressive lethargy, constipation and worsening abdominal pain.

He was born by vaginal delivery at 36 week’s gestation; the pregnancy was complicated by gestational diabetes and hypertension. Mild eczema in the creases of the lower extremities was managed with local steroids during infancy.

At the age of 13 months, he was brought to the hospital because of a 9-day history of persistent pharyngitis, fever, malaise, lethargy, leukocytosis with atypical lymphocytes, thrombocytopenia, hepatosplenomegaly, hypertransaminasemia, and elevated IgG and IgA. Heterophil antibody test and EBV qualitative PCR on plasma were positive, thus confirming Epstein-Barr virus infection. He received intravenous fluids, oral corticosteroids, intravenous immunoglobulin, and was discharged home after 7 days. His convalescence was protracted. It took about 3 months to return to baseline.

Abdominal imaging by ultrasound on the day of admission revealed multiple hypoechoic masses in the porta hepatis, liver, and adjacent to the spleen. Computerized axial tomograms of the thorax, abdomen and pelvis showed an osteolytic paraspinal cervical mass extending into and narrowing the spinal canal, several hepatic masses, and a nodular left adrenal mass, which was biopsied.
Whole slideAdrenal SMAAdrenal EBER+ISH
Diagnosis & Comments [0]
Handout: Download