Neural tube defects — Flashcards

Flashcard 1: Which ventral wall defect is associated with cardiac, GU, neural tube based structural abnormalities?_____

Answer: Omphalocele

Flashcard 2: β-thalassemia _____ is the most severe form of the disease; causes severe anemia a few months after birth

Answer: Major (β0/β0)

Flashcard 3: α-thalassemia due to a four gene deletion causes _____ (lethal in utero)

Answer: hydrops fetalis

Flashcard 4: What pathology is characterized by inappropriate laughter, seizures, ataxia, and severe intellectual disability?_____

Answer: Angelman syndrome

Flashcard 5: _____ is a congenital absence of gyri that is typically accompanied by severe mental retardation and seizures

Answer: Lissencephaly (agyria)

Flashcard 6: In the classic triad of congenital toxoplasmosis, what is the characteristic intracranial imaging finding?

Answer: Diffuse intracranial calcifications

Extra: The classic triad of congenital toxoplasmosis includes: 1. Chorioretinitis 2. Hydrocephalus 3. Diffuse intracranial calcifications (scattered throughout the brain parenchyma). Note: Ring-enhancing lesions are characteristic of Toxoplasmosis in immunocompromised/HIV patients (reactivation), not the congenital form. Contrast with Congenital CMV, which presents with periventricular calcifications.

Flashcard 7: _____ is characterized by obstruction of the terminal ileum by thick, viscid meconium, preventing stool passage at birth

Answer: Meconium ileus

Extra: Meconium ileus is most commonly associated with Cystic Fibrosis (CF). It is characterized by thick, viscid meconium that causes obstruction in the terminal ileum. Contrast enema typically shows a microcolon distal to the obstruction.

Flashcard 8: The most common cause of bladder outlet obstruction in male infants is _____

Answer: posterior urethral valves

Flashcard 9: iodide (lack)

Answer: congenital goiter

Flashcard 10: iodide (excess)

Answer: congenital hypothyroidism