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Neuroparalytic Keratitis In Goldenhar-Gorlin Syndrome
NEUROPARALYTIC KERATITIS IN GOLDENHAR-GORLIN SYNDROME M I C H A E L M. M O H A N D E S S A N ,
M.D.,
AND P A U L E. R O M A N O , Chicago,
The malformations comprising the oculoauriculovertebral dysplasia complex were first described in 1845 by von Arlt, 1 but were not recognized as a syndrome until 1952 when Goldenhar described the classical triad of epibulbar dermoids, preauricular tags and blind fistulas, and vertebral anomalies. 2 Associated ocular defects, facial anomalies, and skeletal malformations have also been reported. 3 - 6 Most recently, Gorlin, Cervenka, and Pruzansky 7 demonstrated that Goldenhar's syndrome is only a mild form or variant of hemifacial microsomia, and this contribution has been recognized 8 by eponymic redescription of this complex as the Goldenhar-Gorlin syndrome or oculoauriculovertebraldysplasia-hemi-facial microsomia. Unilateral neuroparalytic keratitis in this syndrome has been reported twice to date. 4,9 We report a third such case, which was bilateral, to alert clinicians to this potentially blinding problem and its cause. CASE REPORT A 2-year-old white boy, the product of a full-term uncomplicated pregnancy and delivery, had a birth weight of 3.5 kg and was known to have Goldenhar's syndrome and congenital esotropia. He had had red eyes for two months. The referring ophthalmologist, before therapy, took a conjunctival culture which had grown only Stapkylococcus epidermidis. The conjunctivitis was then treated with several topical antibacterial agents without resolution. Four days before referral, corneal opacities were noted and the
From the Division of Ophthalmology, Children's Memorial Hospital, Northwestern University McGaw Medical Center, Chicago, Illinois. Reprint requests to Paul E. Romano, M.D., Divi sion of Ophthalmology, Children's Memorial Hos pital, 2300 Children's Plaza, Chicago, IL 60614
M.D.
Illinois patient received idoxyuridine drops for presumptive herpetic keratitis. Because of progressive ulceration in the next 48 hours, he was referred here (Fig. 1). On admission, each eye fixed centrally. Pupillary reactions were normal. There was a moderate esotro pia. The bulbar conjunctiva was markedly injected and ciliary flush was present in both eyes. An epibulbar dermoid was present at the 9 o'clock aspect of the corneoscleral limbus of the right cor nea. Slit-lamp examination revealed a 4-mm central ulcer in the right cornea and a 2-mm ulcer in the left cornea. There were 3 + flare and 2 + cells in both anterior chambers. The media and fundi were other wise normal. General physical examination was within normal limits except for bilateral preauricu lar skin tags (Figs. 2 and 3). On admission the topical antibacterials were dis continued and treatment was limited to topical atropine drops. The following day appropriate aerobic and anaerobic bacterial, viral, and fungal cultures were taken, as well as material for conjunctival and corneal smears. Although smears of conjunctival scrapings showd an assortment of bacteria in small numbers, smears of scrapings from the margins of the corneal ulcers showd only a few polymorphonuclear leucocytes with no inclusion bodies and no fungi. We were amazed at the ease with which we obtained these cultures and scrapings with minimal topical anesthesia. We subsequently tested the cor neas on several occasions and found them to be virtually anesthetic. A Schirmer I tear test showed deficient tear production (4- and 5-mm wetting in the right and left eye, respectively). Until all cultures were reported negative at 48 hours, the patient received subconjunctival and top ical antibiotics with minimal effect. Subsequent
Fig. 1 (Mohandessan and Romano). T h e patient on admission, with bilateral sterile corneal ulcers that are worse on the patient's right.
AMERICAN JOURNAL O F OPHTHALMOLOGY 85:111-113, 1978
111
112
AMERICAN JOURNAL OF OPHTHALMOLOGY
Fig. 2 (Mohandessan and Romano). The patient's right ear shows a preauricular skin tag.
treatment was limited to atropine, sterile ophthalmic petrolatum ointment, and humidification of the pa tient's crib. The ulcers in both eyes healed in two weeks without further treatment or problems. Neurologic consultation confirmed our findings of hypoesthesia limited to the ophthalmic division of the fifth cranial nerve bilaterally, without evidence of other neurologic deficit.
DISCUSSION
In addition to the two similar reported cases cited,4,9 one case of unilateral corneal anesthesia in Goldenhar's syndrome,
JANUARY, 1978
without corneal ulceration, was reported by von Bijsterveld.10 In our case and in two of the three reported cases, tear production was defi cient. This is regularly seen in corneal denervation of varying causes and the resultant drying is, in turn, the cause of corneal breakdown and ulceration.11 The corneal anesthesia is caused by a defect of the ophthalmic division of the trigeminal nerve. The level at which this occurs is probably nuclear and the result of a nuclear aplasia. This hypothesis is based on autopsy findings in a severe case of unilateral Goldenhar-Gorlin syn drome.8 The child was anophthalmic and therefore did not have a neuroparalytic keratitis. Postmortem examination of seri al sections of the brain stem revealed absence of the ipsilateral sensory and motor nuclei of the trigeminal nerve. SUMMARY
A 2-year-old boy had bilateral corneal ulceration with the Goldenhar-Gorlin syndrome. Initially, the patient received subconjunctival and topical antibiotics with minimal effect. With subsequent treatment of atropine, sterile ophthalmic petrolatum ointment, and humidification of the patient's crib, ulcers in both eyes healed in two weeks without further problems. He had a neuroparalytic kerati tis with corneal anesthesia and decreased tear production bilaterally. Our evidence suggested that aplasia or hypoplasia of the trigeminal nuclei was the probable cause.
ACKNOWLEDGMENT
Nelson Gurney, M.D., referred this patient to us.
REFERENCES
Fig. 3 (Mohandessan and Romano). The patient's left ear show multiple preauricular skin tags.
1. von Arlt, C. F.: Klinische Darstellung der Krankheiten des Anges, vol. 3. Vienna, Braumuller, 1845, p. 376. 2. Goldenhar, M.: Associations malformatives de l'oeil et de I'oreille. J. Genet. Hum. 1:243, 1952.
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NEUROPARALYTIC KERATITIS
3. Aleksie, S., Budzilovich, C , Choy, A., Reuben, R., Randt, C , Finegold, M., McCarthy, J., Converse, J., and Feigin, I.: Congenital ophthalmoplegia in oculo-auriculo-vertebral dysplasia - hemifacial mi crosomia. Neurology 26:638, 1976. 4. Baum, J. L., and Feingold, M.: Ocular aspects of Goldenhar syndrome. Am. J. Ophthalmol. 75:250, 1973. 5. Greenwood, R. D., Rosenthal, A., Sommer, A., Wolff, G., and Craenen, J.: Cardiovascular malfor mations in oculo-auriculo-vertebral dysplasia. J. Pediatr. 85:816, 1974. 6. Geeraets, W. J.: Ocular Syndromes, 3rd ed. Philadelphia, Lea and Febiger, 1976, p. 194. 7. Gorlin, R. J., Cervenka, J., and Pruzansky, S.: Lateral facial cleft (macrostomia) with hemifacial microsomia and oculoauriculovertebral dysplasia
113
(Goldenhar syndrome). In Bergsma, D. (ed.): Birth Defects: Original Article Series, 7:32, 1971. 8. Aleksie, S., Budzilovich, G., Reuben, R., Feigin, I., Finegold, M., McCarthy, J., Aston, S., and Converse, J. M.: Congenital trigeminal neuropathy in oculo-auriculo-vertebral dysplasia - hemifacial microsomia. J. Neurol. Neurosurg. Psvchiatrv 38: 1033, 1975. 9. Sugar, H. S.: An unusual example of the oculoauriculo-vertebral dysplasia syndrome of Golden har. J. Pediatr. Ophthalmol. 4:9 1967. 10. von Bijsterveld, O. P.: Unilateral corneal an esthesia in oculo-auriculo -vertebral dysplasia. Arch. Ophthalmol. 82:189, 1969. 11. Walsh, F. B., and Hoyt, W. F.: Clinical Neuro-Ophthalmology, 3rd ed. Baltimore, Williams & Wilkins, 1969, pp. 382-386.
O P H T H A L M I C MINIATURE
Celsus mentions a probe which- strangely enough-was soluble: a medicated stick, called eollyrium. Collyria were made u p of a glutinous paste rolled into long thin cones. ...The little stick could be used to explore wounds, or they could be broken u p and dissolved to make u p a medicated solution. Eventually, the second use prevailed, and the resulting solutions were used mainly for the eyes. Guido Majno, The Healing Hand Harvard University Press, Cambridge, Mass., 1975, p. 359
M.D.,
AND P A U L E. R O M A N O , Chicago,
The malformations comprising the oculoauriculovertebral dysplasia complex were first described in 1845 by von Arlt, 1 but were not recognized as a syndrome until 1952 when Goldenhar described the classical triad of epibulbar dermoids, preauricular tags and blind fistulas, and vertebral anomalies. 2 Associated ocular defects, facial anomalies, and skeletal malformations have also been reported. 3 - 6 Most recently, Gorlin, Cervenka, and Pruzansky 7 demonstrated that Goldenhar's syndrome is only a mild form or variant of hemifacial microsomia, and this contribution has been recognized 8 by eponymic redescription of this complex as the Goldenhar-Gorlin syndrome or oculoauriculovertebraldysplasia-hemi-facial microsomia. Unilateral neuroparalytic keratitis in this syndrome has been reported twice to date. 4,9 We report a third such case, which was bilateral, to alert clinicians to this potentially blinding problem and its cause. CASE REPORT A 2-year-old white boy, the product of a full-term uncomplicated pregnancy and delivery, had a birth weight of 3.5 kg and was known to have Goldenhar's syndrome and congenital esotropia. He had had red eyes for two months. The referring ophthalmologist, before therapy, took a conjunctival culture which had grown only Stapkylococcus epidermidis. The conjunctivitis was then treated with several topical antibacterial agents without resolution. Four days before referral, corneal opacities were noted and the
From the Division of Ophthalmology, Children's Memorial Hospital, Northwestern University McGaw Medical Center, Chicago, Illinois. Reprint requests to Paul E. Romano, M.D., Divi sion of Ophthalmology, Children's Memorial Hos pital, 2300 Children's Plaza, Chicago, IL 60614
M.D.
Illinois patient received idoxyuridine drops for presumptive herpetic keratitis. Because of progressive ulceration in the next 48 hours, he was referred here (Fig. 1). On admission, each eye fixed centrally. Pupillary reactions were normal. There was a moderate esotro pia. The bulbar conjunctiva was markedly injected and ciliary flush was present in both eyes. An epibulbar dermoid was present at the 9 o'clock aspect of the corneoscleral limbus of the right cor nea. Slit-lamp examination revealed a 4-mm central ulcer in the right cornea and a 2-mm ulcer in the left cornea. There were 3 + flare and 2 + cells in both anterior chambers. The media and fundi were other wise normal. General physical examination was within normal limits except for bilateral preauricu lar skin tags (Figs. 2 and 3). On admission the topical antibacterials were dis continued and treatment was limited to topical atropine drops. The following day appropriate aerobic and anaerobic bacterial, viral, and fungal cultures were taken, as well as material for conjunctival and corneal smears. Although smears of conjunctival scrapings showd an assortment of bacteria in small numbers, smears of scrapings from the margins of the corneal ulcers showd only a few polymorphonuclear leucocytes with no inclusion bodies and no fungi. We were amazed at the ease with which we obtained these cultures and scrapings with minimal topical anesthesia. We subsequently tested the cor neas on several occasions and found them to be virtually anesthetic. A Schirmer I tear test showed deficient tear production (4- and 5-mm wetting in the right and left eye, respectively). Until all cultures were reported negative at 48 hours, the patient received subconjunctival and top ical antibiotics with minimal effect. Subsequent
Fig. 1 (Mohandessan and Romano). T h e patient on admission, with bilateral sterile corneal ulcers that are worse on the patient's right.
AMERICAN JOURNAL O F OPHTHALMOLOGY 85:111-113, 1978
111
112
AMERICAN JOURNAL OF OPHTHALMOLOGY
Fig. 2 (Mohandessan and Romano). The patient's right ear shows a preauricular skin tag.
treatment was limited to atropine, sterile ophthalmic petrolatum ointment, and humidification of the pa tient's crib. The ulcers in both eyes healed in two weeks without further treatment or problems. Neurologic consultation confirmed our findings of hypoesthesia limited to the ophthalmic division of the fifth cranial nerve bilaterally, without evidence of other neurologic deficit.
DISCUSSION
In addition to the two similar reported cases cited,4,9 one case of unilateral corneal anesthesia in Goldenhar's syndrome,
JANUARY, 1978
without corneal ulceration, was reported by von Bijsterveld.10 In our case and in two of the three reported cases, tear production was defi cient. This is regularly seen in corneal denervation of varying causes and the resultant drying is, in turn, the cause of corneal breakdown and ulceration.11 The corneal anesthesia is caused by a defect of the ophthalmic division of the trigeminal nerve. The level at which this occurs is probably nuclear and the result of a nuclear aplasia. This hypothesis is based on autopsy findings in a severe case of unilateral Goldenhar-Gorlin syn drome.8 The child was anophthalmic and therefore did not have a neuroparalytic keratitis. Postmortem examination of seri al sections of the brain stem revealed absence of the ipsilateral sensory and motor nuclei of the trigeminal nerve. SUMMARY
A 2-year-old boy had bilateral corneal ulceration with the Goldenhar-Gorlin syndrome. Initially, the patient received subconjunctival and topical antibiotics with minimal effect. With subsequent treatment of atropine, sterile ophthalmic petrolatum ointment, and humidification of the patient's crib, ulcers in both eyes healed in two weeks without further problems. He had a neuroparalytic kerati tis with corneal anesthesia and decreased tear production bilaterally. Our evidence suggested that aplasia or hypoplasia of the trigeminal nuclei was the probable cause.
ACKNOWLEDGMENT
Nelson Gurney, M.D., referred this patient to us.
REFERENCES
Fig. 3 (Mohandessan and Romano). The patient's left ear show multiple preauricular skin tags.
1. von Arlt, C. F.: Klinische Darstellung der Krankheiten des Anges, vol. 3. Vienna, Braumuller, 1845, p. 376. 2. Goldenhar, M.: Associations malformatives de l'oeil et de I'oreille. J. Genet. Hum. 1:243, 1952.
VOL. 85, NO. 1
NEUROPARALYTIC KERATITIS
3. Aleksie, S., Budzilovich, C , Choy, A., Reuben, R., Randt, C , Finegold, M., McCarthy, J., Converse, J., and Feigin, I.: Congenital ophthalmoplegia in oculo-auriculo-vertebral dysplasia - hemifacial mi crosomia. Neurology 26:638, 1976. 4. Baum, J. L., and Feingold, M.: Ocular aspects of Goldenhar syndrome. Am. J. Ophthalmol. 75:250, 1973. 5. Greenwood, R. D., Rosenthal, A., Sommer, A., Wolff, G., and Craenen, J.: Cardiovascular malfor mations in oculo-auriculo-vertebral dysplasia. J. Pediatr. 85:816, 1974. 6. Geeraets, W. J.: Ocular Syndromes, 3rd ed. Philadelphia, Lea and Febiger, 1976, p. 194. 7. Gorlin, R. J., Cervenka, J., and Pruzansky, S.: Lateral facial cleft (macrostomia) with hemifacial microsomia and oculoauriculovertebral dysplasia
113
(Goldenhar syndrome). In Bergsma, D. (ed.): Birth Defects: Original Article Series, 7:32, 1971. 8. Aleksie, S., Budzilovich, G., Reuben, R., Feigin, I., Finegold, M., McCarthy, J., Aston, S., and Converse, J. M.: Congenital trigeminal neuropathy in oculo-auriculo-vertebral dysplasia - hemifacial microsomia. J. Neurol. Neurosurg. Psvchiatrv 38: 1033, 1975. 9. Sugar, H. S.: An unusual example of the oculoauriculo-vertebral dysplasia syndrome of Golden har. J. Pediatr. Ophthalmol. 4:9 1967. 10. von Bijsterveld, O. P.: Unilateral corneal an esthesia in oculo-auriculo -vertebral dysplasia. Arch. Ophthalmol. 82:189, 1969. 11. Walsh, F. B., and Hoyt, W. F.: Clinical Neuro-Ophthalmology, 3rd ed. Baltimore, Williams & Wilkins, 1969, pp. 382-386.
O P H T H A L M I C MINIATURE
Celsus mentions a probe which- strangely enough-was soluble: a medicated stick, called eollyrium. Collyria were made u p of a glutinous paste rolled into long thin cones. ...The little stick could be used to explore wounds, or they could be broken u p and dissolved to make u p a medicated solution. Eventually, the second use prevailed, and the resulting solutions were used mainly for the eyes. Guido Majno, The Healing Hand Harvard University Press, Cambridge, Mass., 1975, p. 359