Skip to content

Septo-optic dysplasia



Nervous system


Central nervous system disorders
Central and peripheral nervous system disorders
Peripheral nervous system disorders
Autonomic nervous system disorders
Nervous system pathology review

Septo-optic dysplasia


0 / 8 complete


1 / 1 complete
High Yield Notes
13 pages

Septo-optic dysplasia

8 flashcards

USMLE® Step 1 style questions USMLE

1 questions

A newborn boy is evaluated in the neonatal intensive care unit (NICU) for vital sign instability, and hypoglycemia and hypothyroidism detected on routine newborn screening labs. The child was born at 39 weeks to a G1P1 15-year-old mother who tearfully admits to drinking alcohol on several occasions during pregnancy. The patient’s temperature is 35.8 C (96.4F), pulse is 145/min, respirations are 17/min and blood pressure is 55/35 mmHg. Days later a brain MRI shows a hypoplastic pituitary gland, absence of the septum pellucidum and agenesis of the corpus callosum confirming the diagnosis of septo-optic dysplasia. Which of the following set of hormone level changes is most likely found in this patient?  

TSH= Thyroid Stimulating Hormone
TH= Thyroid Hormone
CRP= Corticotropin-Releasing Peptide
ACTH= Adrenocorticotropic Hormone 

Septo-optic dysplasia, also known as de Morsier syndrome, is a rare congenital malformation syndrome featuring underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum. Two of these features need to be present for a clinical diagnosis, with only 30% of patients presenting with all three.