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Septo-Optic Dysplasia (De Morsier Syndrome)
SEPTO-OPTIC DYSPLASIA (DE MORSIER SYNDROME) J. AVERY R U S H , M.D.,
AND F R A N K J. BAJANDAS,
San Antonio,
In 1881, Tenchini 1 described agenesis of the septum pellucidum. In 1941, Reeves 2 described a patient with optic nerve anomalies and absence of the sep tum pellucidum. In 1956, de Morsier 3 associated optic nerve hypoplasia with absence of the septum pellucidum and coined the term "septo-optic dysplasia." In 1962, de Morsier 4 described a spec trum of sagittal midline defects of the central nervous system, including 36 cases of agenesis of the septum pelluci dum, 12 described clinicopathologically and 24 diagnosed by pneumoenFrom the Department of Ophthalmology, Univer sity of Texas Health Science Center at San Antonio, San Antonio, Texas. Reprint requests to J. Avery Rush, M.D., De partment of Ophthalmology, University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Dr., San Antonio, TX 78229.
120
105
90
M.D.
Texas
cephalography. Nine of his patients had chiasmatic or optic nerve anomalies. In 1970, Hoyt and associates 5 described a child with growth-retardation, optic disk hypoplasia, and absence of the sep tum pellucidum as demonstrated by pneumoencephalography. Subsequent re ports have emphasized the frequency of (1) optic disk hypoplasia, (2) absence of the septum pellucidum, and (3) pituitary insufficiency. 6-9 We describe herein two cases with optic disk hypoplasia and bitemporal hemianopia. The computed axial tomog raphy demonstrated absence of the sep tum pellucidum, which supported the di agnosis of de Morsier's syndrome. CASE REPORTS Case 1—A 12-year-old girl was referred to our clinic because of poor visual acuity. Her growth and
75
LEFT
RIGHT Fig. 1 (Rush and Bajandas). Case 1. Visual fields demonstrate bitemporal hemianopia. Aimark perimeter. Left, 3/330 white (1.8). Right, 1/330 white (0.6).
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AMERICAN JOURNAL O F OPHTHALMOLOGY 86:202-205, 1978
V O L . 86, N O . 2
SEPTO-i
Fig. 2 (Rush and Bajandas). Case 1. Fundus photogr;
development had been normal, and she had had nystagmus since early childhood. Examination showed a best-corrected visual acuity of R.E.: 6/21 (20/70); L.E.: 6/60 (20/200), with a 1+ Marcus Gunn pupillary phenomenon. She had pendular nystag mus and the visual fields revealed a bitemporal hemianopia (Fig. 1). Ophthalmoscopic examination revealed bilateral optic disk hypoplasia (Fig. 2). Computed tomography showed absence of the sep tum pellucidum (Fig. 3).
DYSPLASIA
203
is show bilateral optic disk hypoplasia.
Case 2—A 30-year-old woman was referred to the Ophthalmology Department while undergoing inhospital examination for seizure disorder and slight left hemiparesis, both present since early childhood. Examination revealed a normally developed woman with best-corrected visual acuity of R.E.: finger counting at 14 ft; L.E.: finger counting at 4 ft, with a Marcus Gunn pupillary phenomenon. She had ro tary nystagmus and left esotropia and hypotropia. The visual fields showed a bitemporal hemianopia
Fig. 3 (Rush and Bajandas). Left, Case 1. Computed tomography shows absence of the septum pellucidum. Right, Normal patient, computed tomography shows presence of the septum pellucidum (arrow).
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AMERICAN JOURNAL OF OPHTHAMOLOGY
AUGUST, 1978
/
Fig. 4 (Rush and Bajandas). Case 2. Fundus photographs show bilateral optic disk hypoplasia.
to confrontation, and ophthalmoscopic examination revealed bilateral optic disk hypoplasia (Fig. 4). The computed tomography showed dilated lateral ven tricles and absence of the septum pellucidum (Fig. 5). DISCUSSION
Optic nerve hypoplasia may have vari ous clinical manifestations. In some cases,
the hypoplasia of the disk, bilateral or unilateral, is an incidental finding dur ing a routine eye examination. In other cases, the patient is already known to have severe birth defects that may include poor vision, nystagmus, and growth retar dation.
Fig. 5 (Rush and Bajandas). Left, Case 2. Computed tomography shows dilated lateral ventricles and absence of the septum pellucidum. Right, Computed tomography of a patient with dilated lateral ventricles, but with the septum pellucidum (arrow).
VOL. 86, NO. 2
SEPTO-OPTIC DYSPLASIA
Once the clinician has noted the optic disk hypoplasia, he will seek evidence of more extensive midline central nervous system defects. He may demonstrate a bitemporal hemianopia, obtain laboratory evidence of pituitary dysfunction, or seek neuroradiologic proof of anomalies such as absence of the septum pellucidum. Our two cases demonstrate the useful ness of computed tomography in con firming the absence of the septum pel lucidum and thereby obviating the need for pneumoencephalography. SUMMARY
A 12-year-old girl and a 30-year-old woman had bilateral optic disk hypoplas ia and bitemporal hemianopia. By using computed axial tomography on our pa tients, we demonstrated the absence of the septum pellucidum, which confirmed the diagnosis of septo-optic dysplasia, or the de Morsier syndrome.
205
REFERENCES 1. Tenchini, L.: Un casa asenza completa del setto lucido in un bambino di anni due e mezzo colla integritta delle funzione intelletuali. Boll. Scient. 2:65, 1881. 2. Reeves, D. L.: Congenital absence of septum pellucidum. Johns Hopkins Med. J. 69:61, 1941. 3. de Morsier, G.: Etudes sur les dysraphies cranioencephaliques. 3. Agenesie du septum lucidum avec malformation du tractus optique. La dysplasie septooptique. Schweiz. Arch. Neurol. Neurochir. Psychiatr. 77:267, 1956. 4. : Median craniocephalic dysraphia and olfactogenital dysplasia. World Neurol. 3:485,1962. 5. Hoyt, W. F., Kaplan, S. L., Grumbach, M. M., and Glaser, J. S.: Septo-optic dysplasia with pitui tary dwarflsm. Lancet 1:893, 1970. 6. Kaplan, S. L., Grumbach, M. M., and Hoyt, W. F.: A syndrome of hypopituitary dwarfism, hypo plasia of optic nerves and malformation of prosencephalon. Pediatr. Res. 4:480, 1970. 7. Harris, R. J., and Haas, L.: Septo-optic dys plasia with growth hormone deficiency (de Morsier syndrome). Arch. Dis, Child. 47:973, 1972. 8. Billson, F., and Hopkins, I. J.: Optic hypoplas ia and hypopituitarism. Lancet 1:905, 1972. 9. Ellenberger, C , and Runyon, T. E.: Holoprosencephaly with hypoplasia of the optic nerves, dwarfism, and agenesis of the septum pellucidum. Am. J. Ophthalmol. 70:960, 1970.
AND F R A N K J. BAJANDAS,
San Antonio,
In 1881, Tenchini 1 described agenesis of the septum pellucidum. In 1941, Reeves 2 described a patient with optic nerve anomalies and absence of the sep tum pellucidum. In 1956, de Morsier 3 associated optic nerve hypoplasia with absence of the septum pellucidum and coined the term "septo-optic dysplasia." In 1962, de Morsier 4 described a spec trum of sagittal midline defects of the central nervous system, including 36 cases of agenesis of the septum pelluci dum, 12 described clinicopathologically and 24 diagnosed by pneumoenFrom the Department of Ophthalmology, Univer sity of Texas Health Science Center at San Antonio, San Antonio, Texas. Reprint requests to J. Avery Rush, M.D., De partment of Ophthalmology, University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Dr., San Antonio, TX 78229.
120
105
90
M.D.
Texas
cephalography. Nine of his patients had chiasmatic or optic nerve anomalies. In 1970, Hoyt and associates 5 described a child with growth-retardation, optic disk hypoplasia, and absence of the sep tum pellucidum as demonstrated by pneumoencephalography. Subsequent re ports have emphasized the frequency of (1) optic disk hypoplasia, (2) absence of the septum pellucidum, and (3) pituitary insufficiency. 6-9 We describe herein two cases with optic disk hypoplasia and bitemporal hemianopia. The computed axial tomog raphy demonstrated absence of the sep tum pellucidum, which supported the di agnosis of de Morsier's syndrome. CASE REPORTS Case 1—A 12-year-old girl was referred to our clinic because of poor visual acuity. Her growth and
75
LEFT
RIGHT Fig. 1 (Rush and Bajandas). Case 1. Visual fields demonstrate bitemporal hemianopia. Aimark perimeter. Left, 3/330 white (1.8). Right, 1/330 white (0.6).
202
AMERICAN JOURNAL O F OPHTHALMOLOGY 86:202-205, 1978
V O L . 86, N O . 2
SEPTO-i
Fig. 2 (Rush and Bajandas). Case 1. Fundus photogr;
development had been normal, and she had had nystagmus since early childhood. Examination showed a best-corrected visual acuity of R.E.: 6/21 (20/70); L.E.: 6/60 (20/200), with a 1+ Marcus Gunn pupillary phenomenon. She had pendular nystag mus and the visual fields revealed a bitemporal hemianopia (Fig. 1). Ophthalmoscopic examination revealed bilateral optic disk hypoplasia (Fig. 2). Computed tomography showed absence of the sep tum pellucidum (Fig. 3).
DYSPLASIA
203
is show bilateral optic disk hypoplasia.
Case 2—A 30-year-old woman was referred to the Ophthalmology Department while undergoing inhospital examination for seizure disorder and slight left hemiparesis, both present since early childhood. Examination revealed a normally developed woman with best-corrected visual acuity of R.E.: finger counting at 14 ft; L.E.: finger counting at 4 ft, with a Marcus Gunn pupillary phenomenon. She had ro tary nystagmus and left esotropia and hypotropia. The visual fields showed a bitemporal hemianopia
Fig. 3 (Rush and Bajandas). Left, Case 1. Computed tomography shows absence of the septum pellucidum. Right, Normal patient, computed tomography shows presence of the septum pellucidum (arrow).
204
AMERICAN JOURNAL OF OPHTHAMOLOGY
AUGUST, 1978
/
Fig. 4 (Rush and Bajandas). Case 2. Fundus photographs show bilateral optic disk hypoplasia.
to confrontation, and ophthalmoscopic examination revealed bilateral optic disk hypoplasia (Fig. 4). The computed tomography showed dilated lateral ven tricles and absence of the septum pellucidum (Fig. 5). DISCUSSION
Optic nerve hypoplasia may have vari ous clinical manifestations. In some cases,
the hypoplasia of the disk, bilateral or unilateral, is an incidental finding dur ing a routine eye examination. In other cases, the patient is already known to have severe birth defects that may include poor vision, nystagmus, and growth retar dation.
Fig. 5 (Rush and Bajandas). Left, Case 2. Computed tomography shows dilated lateral ventricles and absence of the septum pellucidum. Right, Computed tomography of a patient with dilated lateral ventricles, but with the septum pellucidum (arrow).
VOL. 86, NO. 2
SEPTO-OPTIC DYSPLASIA
Once the clinician has noted the optic disk hypoplasia, he will seek evidence of more extensive midline central nervous system defects. He may demonstrate a bitemporal hemianopia, obtain laboratory evidence of pituitary dysfunction, or seek neuroradiologic proof of anomalies such as absence of the septum pellucidum. Our two cases demonstrate the useful ness of computed tomography in con firming the absence of the septum pel lucidum and thereby obviating the need for pneumoencephalography. SUMMARY
A 12-year-old girl and a 30-year-old woman had bilateral optic disk hypoplas ia and bitemporal hemianopia. By using computed axial tomography on our pa tients, we demonstrated the absence of the septum pellucidum, which confirmed the diagnosis of septo-optic dysplasia, or the de Morsier syndrome.
205
REFERENCES 1. Tenchini, L.: Un casa asenza completa del setto lucido in un bambino di anni due e mezzo colla integritta delle funzione intelletuali. Boll. Scient. 2:65, 1881. 2. Reeves, D. L.: Congenital absence of septum pellucidum. Johns Hopkins Med. J. 69:61, 1941. 3. de Morsier, G.: Etudes sur les dysraphies cranioencephaliques. 3. Agenesie du septum lucidum avec malformation du tractus optique. La dysplasie septooptique. Schweiz. Arch. Neurol. Neurochir. Psychiatr. 77:267, 1956. 4. : Median craniocephalic dysraphia and olfactogenital dysplasia. World Neurol. 3:485,1962. 5. Hoyt, W. F., Kaplan, S. L., Grumbach, M. M., and Glaser, J. S.: Septo-optic dysplasia with pitui tary dwarflsm. Lancet 1:893, 1970. 6. Kaplan, S. L., Grumbach, M. M., and Hoyt, W. F.: A syndrome of hypopituitary dwarfism, hypo plasia of optic nerves and malformation of prosencephalon. Pediatr. Res. 4:480, 1970. 7. Harris, R. J., and Haas, L.: Septo-optic dys plasia with growth hormone deficiency (de Morsier syndrome). Arch. Dis, Child. 47:973, 1972. 8. Billson, F., and Hopkins, I. J.: Optic hypoplas ia and hypopituitarism. Lancet 1:905, 1972. 9. Ellenberger, C , and Runyon, T. E.: Holoprosencephaly with hypoplasia of the optic nerves, dwarfism, and agenesis of the septum pellucidum. Am. J. Ophthalmol. 70:960, 1970.