Pediatrics Diaphragmatic Hernia Quiz

Diaphragmatic Hernia

• Characterized by respiratory distress and scaphoid abdomen in newborns.
• Major concern is pulmonary hypoplasia, which limits lung development.
• If diagnosed prenatally, management involves delivery at a center equipped for ECMO, allowing lung maturation before surgical intervention.

Tracheoesophageal Fistula (TE Fistula)

• Symptoms include respiratory distress combined with excess drooling in newborns.
• Diagnosis confirmed by placing a feeding tube and taking an X-ray to observe coiling in the thorax.
• Associated with VACTERL anomalies, which include vertebral defects, anal atresia, cardiac issues, tracheoesophageal atresia, renal abnormalities, and limb defects.

Choanal Atresia

• Presents in a one-week-old baby as cyanosis except when crying.
• Linked to CHARGE syndrome, characterized by coloboma, heart defects, growth retardation, genitourinary anomalies, and ear abnormalities.

Respiratory Distress Syndrome (RDS)

• Common in 32-week preterm infants, indicated by respiratory rate of 80, dyspnea, and nasal flaring.
• Measurement of prenatal risk involves assessing the lecithin/sphingomyelin (L/S) ratio.

Intestinal Atresia

• Occurs in a two-week-old infant with bilious vomiting and a history of polyhydramnios during pregnancy.
• Often associated with Down syndrome, particularly in cases of duodenal atresia.

Malrotation and Volvulus

• Presenting in a one-week-old infant with bilious vomiting, exhibiting abdominal distension and pulling of legs.
• Condition arises when the intestine fails to complete a 270-degree counterclockwise rotation around the superior mesenteric artery.

Hirschsprung Disease

• Diagnosed when a three-day-old infant has not passed meconium, with DRE revealing lack of stool.
• Biopsy indicates absence of ganglia, which signifies a failure to develop neural cells in part of the bowel.

Necrotizing Enterocolitis (NEC)

• Diagnosed in a 33-week preemie with bloody diarrhea.
• X-ray findings show pneumatosis intestinalis, indicating air in the bowel wall due to bacterial infection.
• Treatment involves discontinuation of feeding (NPO), total parenteral nutrition (TPN), and antibiotics, often necessitating bowel resection.

Intussusception

• Identified in a two-month-old with colicky abdominal pain, "currant jelly" stools, and a right upper quadrant mass.
• Barium enema serves as both diagnostic and therapeutic intervention.

Cryptorchidism

• Occurs in newborn boys with non-palpable testicles, often residing in the inguinal canal.
• Follow-up with ultrasound is advised if testicles remain non-palpable; surgical intervention is recommended if not descended by one year to prevent infertility or malignancy.

Hypospadias

• Noted when the urethral opening is on the ventral surface of the penis.
• Circumcision is contraindicated as foreskin may be needed for surgical correction.

Congenital Adrenal Hyperplasia (CAH)

• Presents with ambiguous genitalia in newborns and subsequent symptoms such as vomiting and electrolyte imbalances.
• Most commonly caused by 21-hydroxylase deficiency, confirmed through 17-OH progesterone levels.
• Treatment includes glucocorticoid and mineralocorticoid supplementation.

Maternal Diabetes Complications

• Type I diabetes in mothers increases risk for IUGR, congenital heart disease, neural tube defects, caudal regression syndrome, and small left colon syndrome.
• Gestational diabetes can lead to newborn issues like LGA, hypoglycemia, polycythemia, jaundice, and respiratory distress syndrome.

Genetic Disorders

• Klinefelter's Syndrome: XXY genotype, presenting with hypogonadism, gynecomastia, and risk of malignancy.
• Neurofibromatosis type 1: Characterized by cafe-au-lait spots, seizures, large head, and autosomal dominant inheritance.
• Pierre Robin Sequence: Features mandibular hypoplasia, glossoptosis, and cleft palate linked to a deletion on chromosome 17.
• Prader-Willi and Angelman syndromes: Caused by deletions on chromosome 15, presenting with distinct behavioral and physical characteristics.
• Williams syndrome: Associated with deletion on chromosome 7, characterized by elfin features and social friendliness.
• Cornelia de Lange syndrome: Noted for IUGR, distinct facial features, and self-injurious behaviors.
• Fetal Alcohol Syndrome: Causes microcephaly, smooth philtrum, thin upper lip, and is a common cause of mental retardation in children.

Immunodeficiency Disorders

• Burton's agammaglobulinemia: X-linked condition leading to absent B cells and reduced immunoglobulin levels.
• Combined Variable Immune Deficiency (CVID): Demonstrated by low levels of all immunoglobulin types with a normal B cell count.