Optic Nerve Anomalies in Basal Encephalocele Yochanan Goldhammer, MD, J. Lawton Smith, MD Basal encephalocele should be suspected in a child when hypertelorism, defect of the bridge of the nose, and other midfacial anomalies are present. Optic nerve anomalies may occur with basal encephalocele. Those previously described are pale discs, coloboma of the optic nerve head, and pit of the optic disc. Two additional disc anomalies that are associated with basal encephalocele are megalopapilla and optic nerve dysplasia. A mass in the nose or nasopharynx under these circumstances is most likely an encephalocele and biopsy is contraindicated.
is a bony de¬ fect in the midline of the base of skull through which meninges and brain structures protrude. A mass may be visible in the nasopharynx
encephalocele Basal the
(sphenopharyngeal form), nose (transethmoidal and sphenoethmoidal forms), or orbit (sphenorbital form).
Other midline craniocerebral and midfacial anomalies are often associ¬ ated with this defect. The reported optic nerve anomalies associated with basal encephalocele include disc pallor,1 pits of the optic nerve
head,2 and optic
nerve
colo-
Submitted for publication Oct 13, 1973. From the Department of Ophthalmology, University of Miami School of Medicine, and the Bascom Palmer Eye Institute, Miami. Dr. Goldhammer is now at the University of Tel Aviv, Israel. Reprint requests to PO Box 520875, Miami, FL 33152 (Dr. Smith).
boma.1 r' Two additonal optic disc anomalies that have, to our knowl¬ edge, not been described with basal
encephalocele, namely, optic disc dys¬ plasia and megalopapilla, are pre¬ sented here.
Report of Cases l.-A right-handed, white girl
was Case born on Oct 31, 1968, the product of a nor¬ mal pregnancy but for a maternal sinusitis at four months' gestation, which was treated for one week with orally adminis¬ tered betamethasone. At birth, the umbili¬ cal cord was said to be wrapped around the child's head, and there was a decreased Apg'ar rating. Labor was three to four hours, and forceps were not used. Birth weight was 3.5 kg (6 lb 4 oz). Shortly after birth, the child was having difficulty breathing. Her parents described ster¬ torous respirations, as if there were nasal obstruction. Because of this, she was hospi¬ talized at 2 months of age. She was found to have a cleft lip, slight ptosis on the right, and a congenital abnormality in the right fundus. At 2 years of age, she was admitted to the Otolaryngology Service for a plastic re¬ pair to the upper lip and excision of a "na¬ sal tumor." Regretably, this tumor turned out to be an encephalocele. The operator described a cystic, pulsatile mass attached to the sphenoid bone, the lateral wall of the nose, and the septum. The postoperative course was complicated by profuse rhinorrhea and temperature up to 41 C (105 F). X-ray film of the skull showed a defect in the planum sphenoidale, and a pneumoencephalogram demonstrated a protru¬ sion of the third ventricle into the bony de¬ fect.
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Neuro-ophthalmological examination at that time showed poor vision in the right eye and intact vision in the left eye. Hypertelorism was noted. The right fissure measured 5.5 mm and the left 8.0 mm; the right eye was slightly microphthalmic, the cornea on that side measuring 10.0 mm and on the left 11.5 mm. A Marcus Gunn pupil was seen on the right side. Retinos¬ copy was —5.00 on the right and + 2.00 on the left. The fundus showed optic nerve dysplasia in the right eye, as to be de¬ scribed. On Nov 4, 1970, the nasal encephalocele was repaired through a bifrontal craniotomy. The floor of the anterior cranial fossa was found to be excessively wide, the orbits being about 4 cm apart, intracranially. The olfactory nerves were displaced laterally by a similar distance. A bony de¬ fect was encountered in the planum sphenoidale, and a tube of dura, 2 cm in diame¬ ter, extending through it. Within the durai sac and adherent to it appeared a highly vascular neural tissue. The cavity of the third ventricle was opened during the dis¬ section and found to extend into the encephalocele. Following the repair of the encephalo¬ cele, the patient had cerebrospinal fluid (CSF) rhinorrhea and later developed a subgaleal and epidural abscess at the oper¬ ative site. She was rehospitalized for bi¬ frontal craniotomy with debridement and removal of the fistulous tract of the subga¬ leal abscess. She recovered from this rather well, and there were no complaints when seen again on April 23, 1973. Examination at that time demonstrated a vision of light perception in the right eye and 20/20 in the left eye. Visual fields in the left eye to simultaneous finger count¬ ing were intact. External examination
Fig
1— Case 1, cleft
lip and hyper-
telorism.
Fig 2.—Left, Case 1, right eye, optic optic disc.
nerve
dysplasia. Right, Case 1, left eye,
normal
Fig 4.—Case 2, right eye with megalopapilla.
Fig
3.
optic disc.
Left, Case 2, right eye, megalopapilla. Right, Case 2, left eye, normal
—
a well-developed, well-nourished, intelligent appearing 4-year-old girl, who was very cooperative and comfortable. She had a large globular protrusion of the left midfrontal region about the size of a small tangerine, which obviously was a postoper¬
showed
ative CSF accumulation. The fissures were asymmetrical in that the right was nar¬ rower than the left. Only the smallest rudi¬ ment of remaining defect of her upper lip was noted, and she had moderate hypertelorism (Fig 1). A high arched palate and a receding mandible were also found. The corneas were grossly clear. The right pupil reacted 3 + to light and the left 4+ to light, but there was a 3+ Marcus Gunn pupil on the right. The extraocular movements and optokinetic responses were normal. Ophthal¬ moscopy showed that the media were clear. In the right eye (Fig 2, left), the disc was elevated, grayish, with glial legs coming off, with somewhat of an orange-yellow surrounding, and traction at the site of
this on the retina was visible at about 5 o'clock with some adjacent elevation. There was a keyhole-type color change in the fundus below, and again a sharp gray demarcation line was seen. There was no high elevation or billowing detachment, however. The fundus appeared essentially as it had on the previous examination. In the left eye, the media were clear. The disc, vessels, macula, and periphery were per¬ fectly normal (Fig 2, right). Case 2.—A 23-month-old white boy was born June 28, 1971, the result of a normal pregnancy. Birth weight was 3.5 kg (6 lb 10 oz). Immediately at birth, he was noted to have a cleft palate and lip. Surgical repair of this was instituted at age 8 weeks. A second plastic operation was performed in November of 1972. At that time, the family noted that he would put his finger in his right eye and touch it, with apparently no sensation of discomfort. They also noted that the right eye tended to turn out. The boy had a third plastic operation in Febru-
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Fig 5.—Case 2, left eye with normal op¬ tic disc. at that time an ophthalmo¬ examination was performed, and the abnormal right optic disc first noted. Growth and development were otherwise normal. The family history showed no evi¬ dence of abnormality. Neuro-ophthalmological examination showed that the boy had a wide interpupillary diameter, a
ary
1973, and
logical
prominence
in the frontal region, and a flat base of the nose. There was good steady central fixation with the left eye. There was a cleft lip that had been re¬ paired, with a very small residual defect at the vermilion border, with a short forelip above. There were two or three small rudi¬ mentary-like nodules in the right preauricular region, somewhat reminiscent of Goldenhar syndrome. The corneas were grossly clear. Both pupils reacted to light. There was a profound difference in his sen¬ sitivity to light in that he tolerated the bright indirect light from an ophthalmo¬ scope on the right eye without distress, whereas it bothered him much more on the left. He was found to have a sensory exctropia of the right eye of about 40 to 50 diopters. The versions were full. Ophthalmoscopy demonstrated clear me¬ dia. The right optic disc was notably larger than the left (Fig 3, left). It had sharp margins, a good color, and a small cup. There was a line coming in slightly obliquely to the lower portion of the disc, suggestive of a partial coloboma. The macula and periphery were normal. The left fundus was quite normal (Fig 3, right). Fluorescein angiography showed the dif¬ ference in the distribution of the vessels on the side of the megalopapilla (Fig 4 and 5). Examination under sedation showed crisply reactive, small pupils. There was no Marcus Gunn pupil on the right. Under
cyclopentolate hydrochloride (Cyclogyl) retinoscopy, the right eye was +2.50 and the left +0.50. The boy was seen again on July 14, 1973. He was found to have a corneal abrasion in the right eye that was treated by patching. It was again noted that the right cornea was anesthetic. X-ray films showed hypertelorism, cleft palate, and a soft tissue mass in the nasopharynx. The latter was initially interpreted by the radiologist as adenoid tissue. However, because the clini¬ cal signs pointed strongly to a basal en¬ cephalocele, laminograms were obtained and a sphenoethmoidal encephalocele was demonstrated.
COMMENT The classification of encephaloceles has been discussed by several au¬ thors.57 They all found that basal en¬ cephalocele is a rare malformation. There was only one such instance in Ingraham and Swan's series of 84 en¬ cephaloceles.8 The transsphenoidal form is one of the rare types. None¬ theless, the diagnosis of this condi¬ tion is important to save the child from excision or biopsy of intranasal
"tumors" or "enlarged adenoids," which under these circumstances may end in CSF rhinorrhea, meningitis, brain abscess, or death. The diagnosis is to be suspected in a child with hypertelorism, a broad, flat nasal root, cleft palate, or cleft lip. A midline cleft lip, even if min¬ imal, is suspicious. If a mass is visualized in the nose or nasopharynx, this is usually pulsatile, fluctuates with respiration, enlarges with crying and coughing, and may be reduced by pressure. Cerebrospinal fluid leakage may be manifested as rhinorrhea. A mass protruding through a cleft palate is highly sus¬ picious. Other associated anomalies of the midline structures include agenesis of the corpus callosum and spina bifida. The eye signs of basal enceph¬ alocele include hypertelorism, exotro-
pia, microphthalmos, peripapillary staphyloma, and optic nerve anom¬ alies.1 Among the latter, pale discs,1 colobomas,14 and pits of the optic disc2 were documented. The optic nerves and chiasm are occasionally dipped into the basal defect and may produce bitemporal hemianopia and
other field defects. When the anterior part of the third ventricle is also pro¬ truding into the bony defect, hypothalamic and pituitary signs may be¬ come manifest.4 In the sphenorbital encephalocele, which occurs often with neurofi-
bromatosis, pulsatile exophthalmos and ocular palsies are also found.910 It should be emphasized that these encephaloceles can be missed if only plain skull x-ray films are ordered. The base view, combined with tomog¬
is the specific radiographie examination used to establish this diagnosis. The encephalocele is seen as a midline hole at the base, with sharp cortical margins. A soft mass in the nasopharynx can be confused with enlarged adenoids. Pneumoencephalography may demonstrate herniation of the anterior part of the third ventricle into the bony defect and oc¬ casionally agenesis of the corpus cal¬
raphy,
losum.5 Both
our patients showed a consid¬ erably enlarged optic disc. In case 2, it would be appropriately termed
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This condition was first described by Franceschetti and Bock in 195011 in a patient with other¬ wise completely normal eyes, the in¬ creased size of the disc probably being due to an abundance of glial or connective tissue elements. Other in¬ stances of megalopapilla were found in eyes with noticeable refractive er¬ rors and other anomalies. In one case, megalopapilla was found in dysos¬ tosis mandibulofacialis of Frances¬ chetti-Zwahlen type.12 Streiff13 sum¬ marized seven cases of megalopapilla from the literature. All except Franceschetti's case were unilateral. Vi¬ sion and refraction were normal in only three cases. When trying to classify the optic disc anomaly of our first case, one en¬ counters difficulties. It is not a colo¬ boma, as the disc is elevated and not depressed. The similarity with the morning glory syndrome1415 is ob¬ vious, although in the latter condition the disc is deeply excavated. Kindler1· discussed the difference between this condition and the coloboma and con¬ cluded that the relation of the morn¬ ing glory syndrome to a coloboma is
megalopapilla.
unlikely.
We chose to term the disc anomaly case 1 as optic disc dysplasia, dif¬ fering from the morning glory syn¬ drome mainly by its being elevated instead of excavated. It has some similarities with the six cases de¬ scribed by Handmann"1 in which the optic cup was filled out with glial or mesenchymal tissue, but in all his cases the optic disc was of normal size. V. Szily, in his monumental work on colobomas,17 stated "with cer^ tainty" that in
all the true morphological malformations of the optic disc, including the true colo¬ are only different manifesta¬ bomas tions of the same developmental anomaly, namely a different form and degree of malformation of the primitive or epithelial .
.
.
optic papilla.
Badtke,18 leaning mainly on V. Szily's work, concluded that aplastic discs, hypoplastic discs, megalopa¬ pilla, and coloboma of the optic nerve head all belong to the same spectrum of anomalies. One might wonder, if that is true, if optic disc dysplasia and
morning glory syndrome could not be added to this spectrum, in that order, between megalopapilla and coloboma.
of Collier and Adiasla are in interesting this regard. A 9-yearold girl had unilateral megalopapilla and coloboma of the choroid. Her older sister had unilateral megalopa¬ pilla in an emmetropie eye. Out of the ten cases reported by Kindler14 as the morning glory syn¬ drome, one had a huge coloboma of the posterior pole of the other eye, and another had an anterior chamber cleavage syndrome in the fellow eye. It is worthwhile to comment about the corneal anesthesia in case 2. Congenital corneal anesthesia has been reported as an isolated phenom¬ enon with or without involvement of the cutaneous supply of the ophthal¬ mic nerve.20-21 On the other hand, it was also documented in four cases of Goldenhar syndrome,2224 and Segall's case l25 is probably another instance The
cases
of this combination. Interestingly enough, our case had preauricular nodules on his involved side, as occurs in the Goldenhar syndrome. Addi¬ tional cases have also been found in association with other facial anom¬ alies25 and hydrocephalus.26
References 1. Walsh FB, Hoyt WF: Clinical Neuro-ophthalmology, ed 3. Baltimore, Williams & Wilkins Co, 1969. 2. Van Nouhouys JM, Bruyn GW: Nasopharyngeal transsphenoidal encephalocele, crater-like hole in the optic disc and agenesis of the corpus callosum: Pneumoencephalographic visualization in a case. Psychiatr Neurol Neurochir 67:243\x=req-\ 258, 1964. 3. Lewin ML, Shuster MM: Transpalatal correction of basilar meningocele with cleft palate. Arch Surg 90:687-693, 1965. 4. Streletz LJ, Schatz NJ: Transsphenoidal encephalocele associated with hypopituitary dwarfism, in Smith JL, Glaser J (eds): Neuro-ophthalmology Symposium. St. Louis, CV Mosby Co, 1973, vol 7, pp 78-86. 5. Pollock JA, Newton TH, Hoyt WF: Transsphenoidal and transethmoidal encephaloceles. Radiology 90:442-453, 1968. 6. Dodge HW Jr, Love JG, Kernohan JW: Intranasal encephalomeningoceles associated with cranium bifidum. Arch Surg 79:75-84, 1959. 7. Suwanwela C, Suwanwela N: A morphological classification of sincipital encephalomeningoceles. J Neurosurg 36:201-211, 1972. 8. Ingraham FD, Swan H: Spina bifida and cranium bifidum: I. A survey of 546 cases. N Engl J Med 228:559-563. 1943. 9. Rovit RL, Sosman MC: Hemicranial aplasia with pulsating exophthalmos: An unusual manifestation of Von Recklinghausen's disease. J Neurosurg 17:104-121, 1960. 10. Cullen RF Jr, O'Tuama LA: Hemicranial aplasia, proptosis, and neurofibromatosis, in Smith JL (ed): Neuro-ophthalmology Symposium. St. Louis, CV Mosby Co, 1972, vol 6, pp 151-158. 11. Franceschetti MD, Bock RH: Megalopapilla: A new congenital anomaly. Am J Ophth 83:227-235, 1950. 12. Malbran JL, Roveda JM: Megalopapilla. Arch Oftal B Aires 26:331-335, 1951.
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13. Streiff B: \l=U"\ber Megalopapille. Klin Monatsbl Augenheilkd 139:824-827, 1961. 14. Kindler P: Morning glory syndrome: Unusual congenital optic disk anomaly. Am J Ophthalmol 69:376-384, 1970. 15. Krause U: Three cases of the morning glory syndrome. Acta Ophthalmol 50:188-198, 1972. 16. Handmann M: Erbliche, vermutlich angeborene zentrale gli\l=o"\seEntartung des Sehnerven mit besonderer Beteiligung der Zentralgefasse. Klin Monatsbl Augenheikld 83:145-152, 1929. 17. V. Szily A: Die Ontogenese der idiopathischen (erbbildlichen) Spaltbildungen des Auges, des Mikrophthalmus und der Orbitalcysten. Z Anat Entwicklungsgesch 74:1-230, 1924. 18. Badtke G: \l=U"\berdie Gr\l=o"\ssenanomaliender Papilla nervi optici, unter besonderer Ber\l=u"\cksichtigungder schwarzen Megalopapille. Klin Monabstl Augenheikld 135:502-510, 1959. 19. Collier M, Adias L: Les anomalies congenitale des dimensions papillaires. Clin Ophthalmol 2:1-23, 1960. 20. Hewson GE: Congenital trigeminal anaesthesia. Br J Ophthalmol 47:308-311, 1963. 21. Leydhecker W: Angeborenes Fehlen der Hornhautnerven. Klin Monabstl Augenheikld 144:263-276, 1964. 22. Sugar HS: An unusual example of the oculoauriculo vertebral dysplasia syndrome of Goldenhar. J Pediatr Ophthalmol 4:9-12, 1967. 23. Van Bijsterveld OP: Unilateral corneal anesthesia in oculoauriculovertebral dysplasia. Arch Ophthalmol 82:189-190, 1969. 24. Baum JL, Feingold M: Ocular aspects of Goldenhar's syndrome. Am J Ophthalmol 75:250\x=req-\ 257, 1973. 25. Segall W: Congenital neuroparalytic keratitis. Am J Ophthalmol 39:732-738, 1955. 26. Schenk H: Hornhautbefunde bei idiopathischer Anasthesie der Hornhaut. Klin Monabstl Augenheilkd 133:506-518, 1958.
is a bony de¬ fect in the midline of the base of skull through which meninges and brain structures protrude. A mass may be visible in the nasopharynx
encephalocele Basal the
(sphenopharyngeal form), nose (transethmoidal and sphenoethmoidal forms), or orbit (sphenorbital form).
Other midline craniocerebral and midfacial anomalies are often associ¬ ated with this defect. The reported optic nerve anomalies associated with basal encephalocele include disc pallor,1 pits of the optic nerve
head,2 and optic
nerve
colo-
Submitted for publication Oct 13, 1973. From the Department of Ophthalmology, University of Miami School of Medicine, and the Bascom Palmer Eye Institute, Miami. Dr. Goldhammer is now at the University of Tel Aviv, Israel. Reprint requests to PO Box 520875, Miami, FL 33152 (Dr. Smith).
boma.1 r' Two additonal optic disc anomalies that have, to our knowl¬ edge, not been described with basal
encephalocele, namely, optic disc dys¬ plasia and megalopapilla, are pre¬ sented here.
Report of Cases l.-A right-handed, white girl
was Case born on Oct 31, 1968, the product of a nor¬ mal pregnancy but for a maternal sinusitis at four months' gestation, which was treated for one week with orally adminis¬ tered betamethasone. At birth, the umbili¬ cal cord was said to be wrapped around the child's head, and there was a decreased Apg'ar rating. Labor was three to four hours, and forceps were not used. Birth weight was 3.5 kg (6 lb 4 oz). Shortly after birth, the child was having difficulty breathing. Her parents described ster¬ torous respirations, as if there were nasal obstruction. Because of this, she was hospi¬ talized at 2 months of age. She was found to have a cleft lip, slight ptosis on the right, and a congenital abnormality in the right fundus. At 2 years of age, she was admitted to the Otolaryngology Service for a plastic re¬ pair to the upper lip and excision of a "na¬ sal tumor." Regretably, this tumor turned out to be an encephalocele. The operator described a cystic, pulsatile mass attached to the sphenoid bone, the lateral wall of the nose, and the septum. The postoperative course was complicated by profuse rhinorrhea and temperature up to 41 C (105 F). X-ray film of the skull showed a defect in the planum sphenoidale, and a pneumoencephalogram demonstrated a protru¬ sion of the third ventricle into the bony de¬ fect.
Downloaded From: http://archopht.jamanetwork.com/ by a Western University User on 06/09/2015
Neuro-ophthalmological examination at that time showed poor vision in the right eye and intact vision in the left eye. Hypertelorism was noted. The right fissure measured 5.5 mm and the left 8.0 mm; the right eye was slightly microphthalmic, the cornea on that side measuring 10.0 mm and on the left 11.5 mm. A Marcus Gunn pupil was seen on the right side. Retinos¬ copy was —5.00 on the right and + 2.00 on the left. The fundus showed optic nerve dysplasia in the right eye, as to be de¬ scribed. On Nov 4, 1970, the nasal encephalocele was repaired through a bifrontal craniotomy. The floor of the anterior cranial fossa was found to be excessively wide, the orbits being about 4 cm apart, intracranially. The olfactory nerves were displaced laterally by a similar distance. A bony de¬ fect was encountered in the planum sphenoidale, and a tube of dura, 2 cm in diame¬ ter, extending through it. Within the durai sac and adherent to it appeared a highly vascular neural tissue. The cavity of the third ventricle was opened during the dis¬ section and found to extend into the encephalocele. Following the repair of the encephalo¬ cele, the patient had cerebrospinal fluid (CSF) rhinorrhea and later developed a subgaleal and epidural abscess at the oper¬ ative site. She was rehospitalized for bi¬ frontal craniotomy with debridement and removal of the fistulous tract of the subga¬ leal abscess. She recovered from this rather well, and there were no complaints when seen again on April 23, 1973. Examination at that time demonstrated a vision of light perception in the right eye and 20/20 in the left eye. Visual fields in the left eye to simultaneous finger count¬ ing were intact. External examination
Fig
1— Case 1, cleft
lip and hyper-
telorism.
Fig 2.—Left, Case 1, right eye, optic optic disc.
nerve
dysplasia. Right, Case 1, left eye,
normal
Fig 4.—Case 2, right eye with megalopapilla.
Fig
3.
optic disc.
Left, Case 2, right eye, megalopapilla. Right, Case 2, left eye, normal
—
a well-developed, well-nourished, intelligent appearing 4-year-old girl, who was very cooperative and comfortable. She had a large globular protrusion of the left midfrontal region about the size of a small tangerine, which obviously was a postoper¬
showed
ative CSF accumulation. The fissures were asymmetrical in that the right was nar¬ rower than the left. Only the smallest rudi¬ ment of remaining defect of her upper lip was noted, and she had moderate hypertelorism (Fig 1). A high arched palate and a receding mandible were also found. The corneas were grossly clear. The right pupil reacted 3 + to light and the left 4+ to light, but there was a 3+ Marcus Gunn pupil on the right. The extraocular movements and optokinetic responses were normal. Ophthal¬ moscopy showed that the media were clear. In the right eye (Fig 2, left), the disc was elevated, grayish, with glial legs coming off, with somewhat of an orange-yellow surrounding, and traction at the site of
this on the retina was visible at about 5 o'clock with some adjacent elevation. There was a keyhole-type color change in the fundus below, and again a sharp gray demarcation line was seen. There was no high elevation or billowing detachment, however. The fundus appeared essentially as it had on the previous examination. In the left eye, the media were clear. The disc, vessels, macula, and periphery were per¬ fectly normal (Fig 2, right). Case 2.—A 23-month-old white boy was born June 28, 1971, the result of a normal pregnancy. Birth weight was 3.5 kg (6 lb 10 oz). Immediately at birth, he was noted to have a cleft palate and lip. Surgical repair of this was instituted at age 8 weeks. A second plastic operation was performed in November of 1972. At that time, the family noted that he would put his finger in his right eye and touch it, with apparently no sensation of discomfort. They also noted that the right eye tended to turn out. The boy had a third plastic operation in Febru-
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Fig 5.—Case 2, left eye with normal op¬ tic disc. at that time an ophthalmo¬ examination was performed, and the abnormal right optic disc first noted. Growth and development were otherwise normal. The family history showed no evi¬ dence of abnormality. Neuro-ophthalmological examination showed that the boy had a wide interpupillary diameter, a
ary
1973, and
logical
prominence
in the frontal region, and a flat base of the nose. There was good steady central fixation with the left eye. There was a cleft lip that had been re¬ paired, with a very small residual defect at the vermilion border, with a short forelip above. There were two or three small rudi¬ mentary-like nodules in the right preauricular region, somewhat reminiscent of Goldenhar syndrome. The corneas were grossly clear. Both pupils reacted to light. There was a profound difference in his sen¬ sitivity to light in that he tolerated the bright indirect light from an ophthalmo¬ scope on the right eye without distress, whereas it bothered him much more on the left. He was found to have a sensory exctropia of the right eye of about 40 to 50 diopters. The versions were full. Ophthalmoscopy demonstrated clear me¬ dia. The right optic disc was notably larger than the left (Fig 3, left). It had sharp margins, a good color, and a small cup. There was a line coming in slightly obliquely to the lower portion of the disc, suggestive of a partial coloboma. The macula and periphery were normal. The left fundus was quite normal (Fig 3, right). Fluorescein angiography showed the dif¬ ference in the distribution of the vessels on the side of the megalopapilla (Fig 4 and 5). Examination under sedation showed crisply reactive, small pupils. There was no Marcus Gunn pupil on the right. Under
cyclopentolate hydrochloride (Cyclogyl) retinoscopy, the right eye was +2.50 and the left +0.50. The boy was seen again on July 14, 1973. He was found to have a corneal abrasion in the right eye that was treated by patching. It was again noted that the right cornea was anesthetic. X-ray films showed hypertelorism, cleft palate, and a soft tissue mass in the nasopharynx. The latter was initially interpreted by the radiologist as adenoid tissue. However, because the clini¬ cal signs pointed strongly to a basal en¬ cephalocele, laminograms were obtained and a sphenoethmoidal encephalocele was demonstrated.
COMMENT The classification of encephaloceles has been discussed by several au¬ thors.57 They all found that basal en¬ cephalocele is a rare malformation. There was only one such instance in Ingraham and Swan's series of 84 en¬ cephaloceles.8 The transsphenoidal form is one of the rare types. None¬ theless, the diagnosis of this condi¬ tion is important to save the child from excision or biopsy of intranasal
"tumors" or "enlarged adenoids," which under these circumstances may end in CSF rhinorrhea, meningitis, brain abscess, or death. The diagnosis is to be suspected in a child with hypertelorism, a broad, flat nasal root, cleft palate, or cleft lip. A midline cleft lip, even if min¬ imal, is suspicious. If a mass is visualized in the nose or nasopharynx, this is usually pulsatile, fluctuates with respiration, enlarges with crying and coughing, and may be reduced by pressure. Cerebrospinal fluid leakage may be manifested as rhinorrhea. A mass protruding through a cleft palate is highly sus¬ picious. Other associated anomalies of the midline structures include agenesis of the corpus callosum and spina bifida. The eye signs of basal enceph¬ alocele include hypertelorism, exotro-
pia, microphthalmos, peripapillary staphyloma, and optic nerve anom¬ alies.1 Among the latter, pale discs,1 colobomas,14 and pits of the optic disc2 were documented. The optic nerves and chiasm are occasionally dipped into the basal defect and may produce bitemporal hemianopia and
other field defects. When the anterior part of the third ventricle is also pro¬ truding into the bony defect, hypothalamic and pituitary signs may be¬ come manifest.4 In the sphenorbital encephalocele, which occurs often with neurofi-
bromatosis, pulsatile exophthalmos and ocular palsies are also found.910 It should be emphasized that these encephaloceles can be missed if only plain skull x-ray films are ordered. The base view, combined with tomog¬
is the specific radiographie examination used to establish this diagnosis. The encephalocele is seen as a midline hole at the base, with sharp cortical margins. A soft mass in the nasopharynx can be confused with enlarged adenoids. Pneumoencephalography may demonstrate herniation of the anterior part of the third ventricle into the bony defect and oc¬ casionally agenesis of the corpus cal¬
raphy,
losum.5 Both
our patients showed a consid¬ erably enlarged optic disc. In case 2, it would be appropriately termed
Downloaded From: http://archopht.jamanetwork.com/ by a Western University User on 06/09/2015
This condition was first described by Franceschetti and Bock in 195011 in a patient with other¬ wise completely normal eyes, the in¬ creased size of the disc probably being due to an abundance of glial or connective tissue elements. Other in¬ stances of megalopapilla were found in eyes with noticeable refractive er¬ rors and other anomalies. In one case, megalopapilla was found in dysos¬ tosis mandibulofacialis of Frances¬ chetti-Zwahlen type.12 Streiff13 sum¬ marized seven cases of megalopapilla from the literature. All except Franceschetti's case were unilateral. Vi¬ sion and refraction were normal in only three cases. When trying to classify the optic disc anomaly of our first case, one en¬ counters difficulties. It is not a colo¬ boma, as the disc is elevated and not depressed. The similarity with the morning glory syndrome1415 is ob¬ vious, although in the latter condition the disc is deeply excavated. Kindler1· discussed the difference between this condition and the coloboma and con¬ cluded that the relation of the morn¬ ing glory syndrome to a coloboma is
megalopapilla.
unlikely.
We chose to term the disc anomaly case 1 as optic disc dysplasia, dif¬ fering from the morning glory syn¬ drome mainly by its being elevated instead of excavated. It has some similarities with the six cases de¬ scribed by Handmann"1 in which the optic cup was filled out with glial or mesenchymal tissue, but in all his cases the optic disc was of normal size. V. Szily, in his monumental work on colobomas,17 stated "with cer^ tainty" that in
all the true morphological malformations of the optic disc, including the true colo¬ are only different manifesta¬ bomas tions of the same developmental anomaly, namely a different form and degree of malformation of the primitive or epithelial .
.
.
optic papilla.
Badtke,18 leaning mainly on V. Szily's work, concluded that aplastic discs, hypoplastic discs, megalopa¬ pilla, and coloboma of the optic nerve head all belong to the same spectrum of anomalies. One might wonder, if that is true, if optic disc dysplasia and
morning glory syndrome could not be added to this spectrum, in that order, between megalopapilla and coloboma.
of Collier and Adiasla are in interesting this regard. A 9-yearold girl had unilateral megalopapilla and coloboma of the choroid. Her older sister had unilateral megalopa¬ pilla in an emmetropie eye. Out of the ten cases reported by Kindler14 as the morning glory syn¬ drome, one had a huge coloboma of the posterior pole of the other eye, and another had an anterior chamber cleavage syndrome in the fellow eye. It is worthwhile to comment about the corneal anesthesia in case 2. Congenital corneal anesthesia has been reported as an isolated phenom¬ enon with or without involvement of the cutaneous supply of the ophthal¬ mic nerve.20-21 On the other hand, it was also documented in four cases of Goldenhar syndrome,2224 and Segall's case l25 is probably another instance The
cases
of this combination. Interestingly enough, our case had preauricular nodules on his involved side, as occurs in the Goldenhar syndrome. Addi¬ tional cases have also been found in association with other facial anom¬ alies25 and hydrocephalus.26
References 1. Walsh FB, Hoyt WF: Clinical Neuro-ophthalmology, ed 3. Baltimore, Williams & Wilkins Co, 1969. 2. Van Nouhouys JM, Bruyn GW: Nasopharyngeal transsphenoidal encephalocele, crater-like hole in the optic disc and agenesis of the corpus callosum: Pneumoencephalographic visualization in a case. Psychiatr Neurol Neurochir 67:243\x=req-\ 258, 1964. 3. Lewin ML, Shuster MM: Transpalatal correction of basilar meningocele with cleft palate. Arch Surg 90:687-693, 1965. 4. Streletz LJ, Schatz NJ: Transsphenoidal encephalocele associated with hypopituitary dwarfism, in Smith JL, Glaser J (eds): Neuro-ophthalmology Symposium. St. Louis, CV Mosby Co, 1973, vol 7, pp 78-86. 5. Pollock JA, Newton TH, Hoyt WF: Transsphenoidal and transethmoidal encephaloceles. Radiology 90:442-453, 1968. 6. Dodge HW Jr, Love JG, Kernohan JW: Intranasal encephalomeningoceles associated with cranium bifidum. Arch Surg 79:75-84, 1959. 7. Suwanwela C, Suwanwela N: A morphological classification of sincipital encephalomeningoceles. J Neurosurg 36:201-211, 1972. 8. Ingraham FD, Swan H: Spina bifida and cranium bifidum: I. A survey of 546 cases. N Engl J Med 228:559-563. 1943. 9. Rovit RL, Sosman MC: Hemicranial aplasia with pulsating exophthalmos: An unusual manifestation of Von Recklinghausen's disease. J Neurosurg 17:104-121, 1960. 10. Cullen RF Jr, O'Tuama LA: Hemicranial aplasia, proptosis, and neurofibromatosis, in Smith JL (ed): Neuro-ophthalmology Symposium. St. Louis, CV Mosby Co, 1972, vol 6, pp 151-158. 11. Franceschetti MD, Bock RH: Megalopapilla: A new congenital anomaly. Am J Ophth 83:227-235, 1950. 12. Malbran JL, Roveda JM: Megalopapilla. Arch Oftal B Aires 26:331-335, 1951.
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13. Streiff B: \l=U"\ber Megalopapille. Klin Monatsbl Augenheilkd 139:824-827, 1961. 14. Kindler P: Morning glory syndrome: Unusual congenital optic disk anomaly. Am J Ophthalmol 69:376-384, 1970. 15. Krause U: Three cases of the morning glory syndrome. Acta Ophthalmol 50:188-198, 1972. 16. Handmann M: Erbliche, vermutlich angeborene zentrale gli\l=o"\seEntartung des Sehnerven mit besonderer Beteiligung der Zentralgefasse. Klin Monatsbl Augenheikld 83:145-152, 1929. 17. V. Szily A: Die Ontogenese der idiopathischen (erbbildlichen) Spaltbildungen des Auges, des Mikrophthalmus und der Orbitalcysten. Z Anat Entwicklungsgesch 74:1-230, 1924. 18. Badtke G: \l=U"\berdie Gr\l=o"\ssenanomaliender Papilla nervi optici, unter besonderer Ber\l=u"\cksichtigungder schwarzen Megalopapille. Klin Monabstl Augenheikld 135:502-510, 1959. 19. Collier M, Adias L: Les anomalies congenitale des dimensions papillaires. Clin Ophthalmol 2:1-23, 1960. 20. Hewson GE: Congenital trigeminal anaesthesia. Br J Ophthalmol 47:308-311, 1963. 21. Leydhecker W: Angeborenes Fehlen der Hornhautnerven. Klin Monabstl Augenheikld 144:263-276, 1964. 22. Sugar HS: An unusual example of the oculoauriculo vertebral dysplasia syndrome of Goldenhar. J Pediatr Ophthalmol 4:9-12, 1967. 23. Van Bijsterveld OP: Unilateral corneal anesthesia in oculoauriculovertebral dysplasia. Arch Ophthalmol 82:189-190, 1969. 24. Baum JL, Feingold M: Ocular aspects of Goldenhar's syndrome. Am J Ophthalmol 75:250\x=req-\ 257, 1973. 25. Segall W: Congenital neuroparalytic keratitis. Am J Ophthalmol 39:732-738, 1955. 26. Schenk H: Hornhautbefunde bei idiopathischer Anasthesie der Hornhaut. Klin Monabstl Augenheilkd 133:506-518, 1958.
