Pediatric pathology principles

Pediatric pathology principles

Pediatric pathology principles

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Congenital Anomalies - Womb Worries

  • Malformation: Primary, intrinsic error in morphogenesis; multifactorial.
    • Examples: Congenital heart disease, neural tube defects.
  • Disruption: Secondary destruction of a previously normal organ/part.
    • Examples: Amniotic bands, vascular accidents.
  • Deformation: Extrinsic mechanical forces on the fetus.
    • Examples: Clubfeet, hip dislocation due to uterine constraint.
  • Sequence: A single primary defect leads to a cascade of anomalies.
    • Example: Potter sequence (oligohydramnios → fetal compression).

⭐ The embryonic period (weeks 3-8) is the most vulnerable to teratogens, causing major malformations. Before week 3 is often an "all-or-none" effect.

Congenital Anomalies: Malformation, Deformation, Disruption

Perinatal Infections - TORCH Terror

📌 TORCH: Toxoplasmosis, Other (Syphilis, VZV, Parvovirus B19), Rubella, CMV, HSV. Infections acquired in utero (transplacental) or during birth. Common findings: IUGR, hepatosplenomegaly, jaundice, rash.

  • Toxoplasmosis: Classic triad of chorioretinitis, hydrocephalus, and diffuse intracranial calcifications.
  • Rubella: Triad of cataracts, sensorineural deafness, and patent ductus arteriosus (PDA).
  • CMV: Blueberry muffin rash (extramedullary hematopoiesis), microcephaly, and periventricular calcifications.
  • HSV: Usually perinatal. Vesicular skin lesions, encephalitis.
  • Syphilis: Early signs non-specific; late signs include saber shins, saddle nose.

TORCH Infections: Background, Symptoms, and Transmission

⭐ Cytomegalovirus (CMV) is the most common congenital infection in the United States.

Pediatric Neoplasia - Tiny Tumors

  • Origin: Arise from embryonal tissues (blastomas); often termed "small, round, blue cell tumors" on histology.
  • Genetics: Strong association with congenital malformations & genetic syndromes (e.g., Down syndrome, Neurofibromatosis, Beckwith-Wiedemann).
  • Prognosis: Generally more responsive to chemotherapy and have a better prognosis than adult cancers.

Histology of small round blue cell tumors

  • Key Examples (Small, Round, Blue Cell Tumors):
    • Neuroblastoma: Most common extracranial solid tumor.
    • Wilms Tumor: Kidney tumor, associated with WAGR syndrome.
    • Retinoblastoma: Eye tumor, associated with RB1 gene mutation.
    • Hepatoblastoma: Most common pediatric liver tumor.
    • Ewing Sarcoma: Bone tumor, t(11;22) translocation.
    • Rhabdomyosarcoma: Soft tissue sarcoma of skeletal muscle origin.

Neuroblastoma often presents as an abdominal mass crossing the midline. It can spontaneously regress, especially in infants < 1 year old. Look for elevated urinary catecholamines (VMA, HVA).

Metabolic & Genetic - Inborn Issues

  • Inborn Errors of Metabolism (IEMs): Mostly autosomal recessive single-gene defects blocking metabolic pathways, leading to substrate accumulation or product deficiency.
  • Phenylketonuria (PKU):
    • Deficiency: Phenylalanine hydroxylase (PAH).
    • Features: Intellectual disability, seizures, musty/mousy odor, fair skin.
    • Tx: Lifelong dietary restriction of phenylalanine.
  • Galactosemia (Classic):
    • Deficiency: Galactose-1-phosphate uridyltransferase (GALT).
    • Features: Jaundice, hepatomegaly, infantile cataracts, vomiting.

⭐ Neonates with galactosemia are at markedly increased risk for E. coli sepsis.

Phenylalanine and Tyrosine Metabolic Pathways

  • Lysosomal Storage Diseases:
    • Tay-Sachs: Hexosaminidase A deficiency; GM2 ganglioside accumulates. Cherry-red macula, neurodegeneration.
    • Gaucher: Glucocerebrosidase deficiency. Hepatosplenomegaly, pancytopenia, bone crises.

High‑Yield Points - ⚡ Biggest Takeaways

  • Congenital anomalies are the leading cause of infant mortality.
  • Pediatric tumors are typically embryonal (neuroblastoma, Wilms tumor) and involve soft tissue, CNS, or marrow.
  • Teratogen effects depend on the timing of exposure (weeks 3-9 are critical).
  • Perinatal TORCH infections cause chorioretinitis, intracranial calcifications, and hydrocephalus.
  • Fetal hydrops is a severe, generalized edema, often a final pathway for many fetal diseases.
  • Sudden Infant Death Syndrome (SIDS) is a diagnosis of exclusion in infants <1 year.

Practice Questions: Pediatric pathology principles

Test your understanding with these related questions

A 4-year-old boy is brought to his pediatrician by his mother for a physical exam before summer camp. They have no complaints or concerns at this time. He was born at 37 weeks gestation by cesarean delivery. The delivery was complicated by an omphalocele and macrosomia. During infancy and into early childhood, he struggled to breathe and eat due to an enlarged tongue. Growth and development were mostly normal with mild uneven growth of his body. He has one uncle that had similar symptoms and is alive and well. The child is up to date on all vaccines and is meeting developmental goals. He enjoys school and playing with his friends. His heart rate of 90/min, respiratory rate of 22/min, blood pressure of 110/65 mm Hg, and temperature of 36.9°C (98.4°F). Overall the child appears healthy. Physical exam findings include known hemihypertrophy of the right side along with a mildly enlarged tongue. This patient is at increased risk of developing which of the following?

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Flashcards: Pediatric pathology principles

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What pathologic RBC is seen with end-stage renal disease, pyruvate kinase deficiency, and in premature infants after exchange transfusion?_____

TAP TO REVEAL ANSWER

What pathologic RBC is seen with end-stage renal disease, pyruvate kinase deficiency, and in premature infants after exchange transfusion?_____

Echinocyte ("burr cell") (2 names)

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