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Case 4

Hx: Child with Visual loss

Septooptic Dysplasia (SOD)

A.k.a. De Morsier Syndrome

1956: De Morsier described 7 patients with SOD.

In the spectrum of holoprosencephaly

Septooptic Dysplasia

Findings

Absence of the septum pellucidum

Completely absent…64%

Partially absent…….36%

Small optic nerves and/or chiasm

Frontal horns point down

+/- thin pituitary infundibulum and small pituitary gland

Associations

Pituitary insufficiency (approx. 2/3…62 – 88%)

Often with small stature due to growth hormone deficiency

Additional congenital anomalies (60%)

Schizencephaly (most common)

Migrational disorders

Callosal dysgenesis

Olfactory tract/bulb hypoplasia

Ocular anomalies

Septooptic Dysplasia

Etiology: Thought to be secondary to a combination of

Several genetic abnormalities

In utero injuries

Septooptic Dysplasia

Prognosis

Isolated optic n. hypoplasia (ONH)

Visual defect

Normal intelligence and growth

ONH + septal deficiency

(Same as isolated ONH)

ONH + pituitary deficiency

May have developmental delay

ONH, pituitary deficiency, & migrational disorder

Seizures (in addition to above)

Septooptic Dysplasia

Treatment

Hormonal replacement

Growth Hormone

Thyroid Hormone