Septooptic dysplasia (de Morsier syndrome).

Abstract

Septooptic dysplasia (de Morsier syndrome} is a clinical and anatomical complex consisting of agenesis of the septum pellucidum, defonnity of the lateral and third ventricles, optic disc hr poplasia with visual impairment, and hormonal deficiencies due to h ypothalamic and pituitary maldevelopment. Ventricular enlargement, agenesi s of the corpus callosum, cleft palate, and harelip are other occasional presentations of this def(mnity of midline structures. \ Ve present the characteristic ultrasound features which, to our knowledge, have not been previously reported. REPORT OF A CASEThe patient was horn at 38 weeks' •t•station f(,lJowin ,:; an uneventful pregnancy. However, an antenatal ultmsound examination had shown "hydrocephalus.·· The Apf.{nr st·orcs were 7 and 8 at one and live minutes , respectively. The fig. l C).The hydrocephalus was felt to he progre~sive on dink-a! grounds and a ventriculoperitoneal shunt was put in place at 1 week of age .Growth and development was normal with no evidence of endocrinopathy until the age of 2 years. The patient then presented with minimal hreast de,•elopment. The f(,llidc stimulating hormone (FSH) level was 7. 7 ml U/ml (normal = <5.0 ml U/ml), luteinizing hormone {LH ) was <3.5 ml U/ ml (normal · "" <5 .0 ml U/ml) , estradiol was 33 pg/ml (normal = <20 pg/ml), and dihydroepinndrosterone sulfitic (D H EAS) was 7 IJ.g/ml (normal = 2-10 J.Lg/ml). The cause of this precocious puberty is not clear.

A rare case of septo-optic dysplasia

“…(7) Optic nerve hypoplasia is seen in 25% cases of agenesis of septum pellucidum. Any child presenting with visual impairment and nystagmus should be evaluated for optic nerve involvement, (1) and if ONH is detected, the patient should be assessed for anterior pituitary hormone deficiency. Additionally, many children with SOD can have developmental delay and seizures, and should be evaluated for these possible concerns.…”

“…Septo-Optic Dysplasia, also referred to as de Morsier' s syndrome, is a rare condition characterized by Optic nerve hypoplasia, Pituitary abnormalities, and Midline brain defects (involving primarily the septum pellucidum and, at times, the corpus callosum). (1) The diagnosis is typically made when two of the three features are present. The term Septo-Optic dysplasia (SOD) was coined in 1956 by the Swiss neurologist, de Morsier, who pointed out the association of optic nerve hypoplasia with an absence of the septum pellucidum.…”

Septo-Optic Dysplasia

“…These abnormalities include hypoplasia of the optic chiasm, small optic radiations, and a small pituitary gland. 2,4,11,20 …”