Developmental Disorders

Question 1

Environmental neurodevelopmental disorder caused by severe drop in BP/HR in labor:

Answer 1

Hypoxic-ischemic encephalopathy of the newborn.

- normocephalic at birth - microcephalic later

Question 2

Infectious cause of neurodevelopmental disorder:

Answer 2

Congenital CMB infection: mom infected during pregnancy, microcephalic at birth, periventricular calcifications.

Question 3

Toxin caused neurodevelopmental disorder:

Answer 3

Fetal Alcohol Sydrome (FAS): midface abnormalities, prenatal and postnatal growth disturbances, CNS dysfunction - learning, ADHD, behavior, seizure.

Question 4

Genetic neurodevelopmental disorder that is exclusively in girls and causes ringing of hands:

Answer 4

Rett Syndrome.
Normal at birth and first few months, then loss of milestones and ringing of hands.
Acquired microcephaly, acquired seizures.
Mutation of MECP2.

Question 5

Genetic neurodevelopmental disorder that causes a port wine stain of the face and leptomeningeal angiomatosis:

Answer 5

Sturge Weber Syndrome.

Cognitive impairment, focal seizures, glaucoma, cortical calcifications. GNAQ mutation in somatic progenitor cell.

Question 6

Genetic neurodevelopmental disorder that causes hypomelanotic macules and angiofibromas:

Answer 6

Tuberous Sclerosis.
Cortical tubers cause cognitive impairment, seizures, behavioral problems.
AD but high de novo, mutations in Hamartin, Tuberin.