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Show Journal of Neuro- Ophthalmology 14( 4): 214- 216, 1994. © 1994 Raven Press, Ltd., New York Adult Expression of DeMorsier Syndrome Following Head Trauma Thomas E. Acers, M. D., and Ann A. Warn, M. D. DeMorsier syndrome is a well- described entity, which includes optic nerve hypoplasia and absence of the septum pellucidum with or without pituitary abnormalities. Patients with all three aspects of this syndrome are diagnosed in childhood due to their neuroendocrine dysfunction. We present a review of the literature and a case report of an adult diagnosed with DeMorsier syndrome when he developed neuroendocrine abnormalities after head trauma. Key Words: DeMorsier syndrome- Septo- optic- pitu-itary dysplasia- Neuroendocrine dysfunction- Optic nerve hypoplasia. From the Department of Ophthalmology, Dean A. McGee Eye Institute, University of Oklahoma, Oklahoma City, Oklahoma, U. S. A. This study has been supported in part by a grant from Research to Prevent Blindness, Inc., New York, New York. Address correspondence and reprint requests to Dr. Ann A. Warn, 608 Stanton L. Young Blvd., Oklahoma City, OK 73104, U. S. A. Congenital optic nerve hypoplasia in association with aplasia of the septum pellucidum was first reported in 1941, by Reeves ( 1), who described a 7- month- old infant with congenital blindness, normal development, absent pupillary reflexes, small pale optic nerves, and absence of the septum pellucidum by pneumoencephalography. DeMorsier ( 2) then described the necropsy findings of a patient with hypoplasia of the optic nerves and aplasia of the septum pellucidum in 1956, and he coined the term " septo- optic dysplasia." In 1962, he reported another 36 cases of septum pellucidum agenesis, 9 of which had an associated optic nerve hypoplasia ( 3). Hoyt and coworkers ( 4) first described the association of pituitary dwarfism with septo- optic dysplasia in nine patients in 1970. Kaplan and colleagues ( 5) added six more patients with the complete septo- optic- pituitary dysplasia syndrome that same year, and they ascribed the hypopitu-itary state to a diencephalic defect. Diabetes insipidus was present in two patients, growth hormone deficiency in all six patients, and multiple trophic hormone deficiencies in four. Four patients were shown to have absence of the septum pellucidum by pneumoencephalography. It was noted that growth hormone deficiency is the most common pituitary abnormality ( 6). In 1978, Clark and Meyer ( 7) emphasized the neonatal presentation of the syndrome, characterized by blindness, seizures, and hypoglycemia in eight cases. With the variations of presentation and specific midline abnormalities, some have suggested a more general term such as " suprasellar dysplasia" or " optoinfundibular hypoplasia" ( 8). Acers ( 9) reported a series of 45 patients with echographic measurement of the optic nerves and computed tomographic ( CT) studies of the midline structures. Of the 45 patients, 12 ( 27%) demonstrated midline dysplasia and 6 ( 13%) had evi- 214 DeMORSIER SYNDROME AFTER TRAUMA 215 dence of neuroendocrine dysfunction. It was also found that 5 patients ( 12.5%) with optic nerve hypoplasia were unilaterally affected. In the group of 12 patients with optic nerve hypoplasia and absence of the septum pellucidum, one patient ( 8.3%) was unilaterally affected. There has also been described a subset of patients with optic nerve hypoplasia and endocrine abnormalities, but normal midline structures. Kaufman and colleagues ( 8) reported on two of these patients who had pituitary stalk hypoplasia by magnetic resonance imaging ( MRI) that had not been visualized on CT scan. This indicated a more structural etiology rather than the previously hypothesized functional abnormality of the pituitary gland in this subset of patients. Barkovich and Norman ( 10) studied 2,007 MRI scans finding 35 patients with absence of the septum pellucidum. Seven patients had septo- optic dysplasia and all 35 patients had some sort of associated anomaly. There was no case of an absent septum pellucidum in an otherwise normal patient. This is the first report of the septo- optic- pituitary dysplasia syndrome ( DeMorsier syndrome) being exacerbated in adulthood following head trauma. CASE REPORT In January 1992, a 21- year- old racehorse trainer and jockey with a height of 64 in. and usual weight of 130- 135 lb was thrown from his horse, striking his head on a concrete wall and rendering him unconscious for approximately 20 minutes. He was hospitalized and evaluated for headache and dizziness, and he was observed to be confused and unable to ambulate. At that time he was treated for multiple abrasions and contusions and released. Over the next 2 months he experienced a 20- lb weight loss, marked postural hypotension, frequent fainting spells, nocturia, generalized weakness and headaches with nausea and vomiting. At readmission to the hospital, his blood pressure while supine was recorded as 70/ 50 with a pulse rate of 60. Upon standing his blood pressure was no longer recordable. MRI revealed a 1 x 1 x 1 cm abnormal signal intensity in the inferomedial tip of the left temporal lobe consistent with a small intracerebral hematoma; no other abnormalities were noted. Subsequent chest radiograph and CT scans of the cervical spine and adrenal glands were normal. The results of serial serum electrolytes, blood and urine osmolality, and levels of catecholamines, Cortisol, renin, and aldosterone were obtained. This demonstrated partial diabetes insipidus ( water deprivation yielded low urine osmolality until DDAVP was given), hypokalemia ( 3.3), and hypoaldosteronemia ( ACTH = 48 pg/ ml, aldosterone < 1 ng/ ml). Levels of growth hormone, prolactin, testosterone, thyroxine, and thyroid-stimulating hormone were within normal limits. Because of persistent headaches and dizziness, and his mention of decreased vision in his right eye, he was referred for neuro- ophthalmic examination. At that time it was ascertained that the decreased vision of his right eye had been lifelong and his head hurt where he had hit the brick wall. His best corrected visual acuity was 20/ 50 right eye and 20/ 15 left eye. There was an afferent pupillary defect on the right. He was orthophoric and ocular motility was normal. The right optic nerve was small, pale, and tilted with a peripapillary crescent ( patient refused optic nerve photographs), and the rest of the fundus examination was normal. The left ocular fundus was entirely normal. Goldmann visual fields demonstrated generalized, irregular constriction especially in the temporal field on the right and a normal field on the left. The initial MRI was reviewed and demonstrated absence of the septum pellucidum with a pituitary stalk and gland of normal size ( see Fig. 1). The patient has been treated with Florinef, Klor-vess, DDAVP, compressive stockings, and liberal salt intake. FIG. 1. Magnetic resonance image of the patient's brain demonstrating absence of the septum pellucidum. This frame also reveals that the pituitary stalk and gland are of normal size. / Neuro- Ophthalmol, Vol. 14, No. 4, 1994 216 T. E. ACERS AND A. A. WARN DISCUSSION There are two basic theories pertaining to the optic nerve hypoplasia. The first theory indicates that normal ganglion cells develop, which reach an abnormal chiasm and undergo retrograde degeneration. The second theory suggests that the forming optic nerves are stretched by the development of abnormal cerebral hemispheres and ventricular system causing retrograde degeneration ( 9). These abnormalities are felt to occur between the fifth and twentieth week of gestation. Agenesis of the septum pellucidum is believed to occur around the sixteenth to seventeenth week of gestation, caused by disruption in the development of midline structures ( 11). Although the actual etiology is unknown, septo- optic dysplasia ( with or without pituitary involvement) has been associated with nulliparity and young maternal age ( 8). It is not unusual to find the septo- optic component of the syndrome in adults in whom it has not been previously described, but it must be extraordinarily rare though, for the complete syndrome to become manifest in adulthood following head trauma. To date, we cannot find a similar case reported in the literature. Other than the patient's small stature, there was no previous evidence of pituitary dysfunction prior to his head trauma. Perhaps he had the congenital " setup" for potential neuroendocrine dysfunction, or a subclinical manifestation, which was then " triggered" by the head trauma. REFERENCES 1. Reeves DL. Congenital absence of the septum pelluccidum. Bull Johns Hopkins Hosp 1941; 69: 6- 71. 2. DeMorsier G. Etudes sur les dystrophies cranio- encepha-liques. III. Ag^ nesie du septum lucidum avec malformation du tractus optique: la dysplasia septo- optique. Schweiz Arch Neurol Neurochir Psychiatr 1956; 77: 267. 3. DeMorsier G. Median cranioencephalic dysraphias and ol-factogenital dysplasia. World Neurol 1962; 3: 485- 505. 4. Hoyt WF, Kaplan SL, Grumbach MM, Glaser JS. Septo-optic dysplasia and pituitary dwarfism. Lancet 1970; 1: 893- 4. 5. Kaplan SL, Grumbach MM, Hoyt WF. A syndrome of hy-popituitary dwarfism, hypoplasia of the optic nerves and malformation of prosencephalon: report of six patients. Pe-diatrRes 1970; 4: 480- 1. 6. Jacobs M, Taylor D. The systemic and genetic significance of congenital optic disc anomalies. Eye 1991; 5: 470- 5. 7. Clark EA, Meyer WF. Blindness and hypoglycemia: growth hormone deficiency with septo- optic dysplasia. Tex Med 1978; 74: 47- 50. 8. Kaufman LM, Miller MT, Mafee MF. Magnetic resonance imaging of pituitary stalk hypoplasia: a discrete midline anomaly associated with endocrine abnormalities in septo-optic dysplasia. Arch Ophtholmol 1989; 107: 1485- 9. 9. Acers TE. Optic nerve hypoplasia: septo- optic- pituitary dysplasia syndrome. Trans Ophtholmol Soc 1981; 425- 457. 10. Barkovich AJ, Normal D. Absence of the septum pellucidum: a useful sign in the diagnosis of congenital brain malformations. AJR 1989; 152: 353- 60. 11. Morgan SA, Emsellem HA, Sandler JR. Absence of the septum pellucidum: overlapping clinical syndromes. Arch Neurol 1985; 42: 769- 70. / Neuro- Ophthalmol, Vol. 14, No. 4, 1994 |
