Volume 18 Number 5 / October 2014
Cherungottil et al
507
8. Rohn R. Pseudotumor cerebri following treatment of hypothyroidism. Am J Dis Child 1985;139:752. 9. Raghavan S, DiMartino-Nardi J, Saenger P, Linder B. Pseudotumor cerebri in an infant after L-thyroxine therapy for transient neonatal hypothyroidism. J Pediatr 1997;130:478-80. 10. Strickler C, Pilon AF. Presumed levothyroxine-induced pseudotumor cerebri in a pediatric patient being treated for congenital hypothyroidism. Clin Ophthalmol 2007;1:545-9.
Congenital oculomotor nerve palsy due to effects of carotid artery agenesis Lakshmi Cherungottil, MS,a Shashikant Shetty, MS,a Perumalsamy Vijayalakshmi, MS,a Malay Kumar Dwivedi, MS,a Kaliappan Gurusamy Srinivasan, MD,b and Muniasamy Saravanan, MRCPc Isolated carotid artery agenesis is not generally recognized as a cause of congenital oculomotor nerve palsy. We report this rare association in 2 children and examine the underlying mechanism.
Case 1
A
7-year-old South Indian girl presented at the Paediatric Ophthalmology Department of Aravind Eye Hospital and Post Graduate Institute with a history of right upper eyelid ptosis and squinting of the same eye since birth. She had a normal perinatal period and normal milestones. Her medical history was unremarkable. There was no family history of any significant eye disease. On ophthalmological examination, visual acuity was 20/ 80 in the right eye, with no improvement with refractive correction or pinhole, and 20/20 in the left eye. There was an upper lid notch, with ptosis in the right eye and an epibulbar dermoid (Figure 1A). The right eye was exotropic and hypotropic; ocular motility was restricted in all directions except abduction. The pupil was dilated and fixed at 5 mm, with no signs of aberrant regeneration. Ocular motility in the left eye was full and unrestricted.
FIG 1. Patient 1. A, The right eye in exotropic and hypotropic position showing ptosis and temporal lid notch. B, T2-weighted cranial magnetic resonance (MR) imaging (axial view) showing the right posterior communicating artery aneurysm. C, 3D time-of-flight (TOF) cerebral angiogram axial view, superior) showing a deficient flow in the left internal carotid artery, normal flow in the right internal carotid artery, and the absence of high intensity signal flow void in the aneurysm. D, 3D TOF angiogram of the neck (coronal view) showing absent flow in the left internal carotid artery.
Retinal examination of both eyes was normal, but she showed perifoveal fixation in the right eye. She had no binocularity in primary or downgaze. There were no neurocutaneous abnormalities or other neurologic signs, and a thorough evaluation performed by the pediatrician ruled out systemic diseases. She was diagnosed with pupilinvolving congenital third (oculomotor) nerve palsy with amblyopia in her right eye. Magnetic resonance (MR) imaging and MR angiography revealed a right posterior communicating artery aneurysm (Figure 1B) compressing the oculomotor nerve, which explained the clinical features, but the aneurysm was already thrombosed, as indicated by the absence of flow void in the MR angiogram (Figure 1C). Additionally, she had a left internal carotid artery agenesis (Figure 1C,D), which led us to conclude that the lesion was a thrombosed “flow aneurysm,” which was congenital and did not mandate emergency intervention.
Case 2 Author affiliations: aAravind Eye Hospital and Post Graduate Institute of Ophthalmology, Madurai, Tamil Nadu, India; bKGS Advanced Scan Centre, Madurai, Tamil Nadu; cRio Advanced Children’s Hospital Madurai, Tamil Nadu Submitted December 30, 2013. Revision accepted June 12, 2014. Correspondence: Lakshmi Cherungottil, MS, Aravind Eye Hospital, 1 Anna Nagar, Madurai 625020, Tamil Nadu, India (email: [email protected]). J AAPOS 2014;18:507-509. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2014.06.014
Journal of AAPOS
A 40-day-old female infant was referred with a history of right upper eyelid ptosis, since birth. She had an uneventful perinatal history except for a patent ductus arteriosus which closed spontaneously and a small Atrial septal defect with left to right shunt, assessed by the cardiologist that was under observation. There was no family history of ptosis or eye disease. On initial examination, she had complete ptosis of the right eye (Figure 2A), which was fixed in the abducted
508
Cherungottil et al
FIG 2. Patient 2. A, Severe ptosis in the right eye. B, T2-weighted cranial MR fat suppression sequence (axial view) showing aneurysmal dilatation of the right internal carotid artery and posterior communicating artery with arteriovenous malformation in the paracavernous area. C, 3D TOF cerebral angiogram axial view, inferior) showing high-intensity signal flow void in the aneurysm with deficient flow in the left internal carotid artery. D, TOF angiogram of the neck (oblique sagittal view) showing hypoplastic left internal carotid artery and no flow through the same.
position. The right pupil was fixed at 4 mm and unreactive to light. There were no signs of aberrant regeneration. Left eye examination was unremarkable. Ocular motility of the right eye, assessed by doll’s eye maneuver, was limited in all directions except abduction. Dilated fundus showed no abnormality. She was evaluated in detail by a pediatrician and did not have any other neurological signs or significant neurocutaneous abnormalities. MR imaging and MR angiography revealed a hypoplastic left internal carotid artery and no flow in the same (Figure 2D), with aneurysmal dilatation of the right internal carotid artery and posterior communicating artery, with arteriovenous malformation in the paracavernous area compressing the oculomotor nerve (Figure 2B,C). She was referred to a neurosurgeon and an interventional radiologist for further evaluation and because of young age, high risk, and the absence of any other neurological deficit has been kept under close observation.
Discussion Acquired oculomotor nerve palsies in infants as the initial presentation of an intracranial aneurysm are rare. We report 2 children with internal carotid artery agenesis and hypoplasia and a resultant flow aneurysm at the junction between posterior communicating artery and internal carotid artery. This in turn caused focal compression of the third nerve presenting as congenital oculomotor palsy. To the best of our knowledge, this has not been previously documented.
Volume 18 Number 5 / October 2014 Agenesis of the internal carotid artery was first documented by angiography by Verbiest in 1954.1 Affiti and colleagues2 reported the incidence to be below 0.01% in the general population. The true incidence is unknown, however, because the diagnosis is made during radiologic evaluation for other reasons. Pediatric intracranial aneurysms are also rare (0.5%-4.6%); those in neonates account for fewer than 30 cases.3,4 Internal carotid artery malformations range from hypoplasia to absence of a single section and even complete absence. The internal carotid artery gives rise to the anterior and middle cerebral arteries, which irrigate most of the cerebral territory. The lack of flow through the carotid system is compensated for in most cases through the circle of Willis and, less frequently, by persistent embryologic vessels or by collaterals. Intracranial aneurysms have been reported in the anterior communicating artery, the posterior communicating artery, and in the cavernous internal carotid artery,5 the last two as in our patients. The main concern in internal carotid artery agenesis is the increased risk for aneurysms (67% vs 2%-4% in individuals without this condition5), risk of ischemia, and moyamoya syndrome. Increased risk for aneurysms may be due to the increased flow in the supplementary arteries (flow aneurysms). The recognition of aneurysms becomes important due to the fact that these patients are at a higher risk for subarachnoid hemorrhage and ischemia if the collateral circulation is insufficient.6 Additionally it is essential to be aware of the internal carotid artery agenesis during any interventional maneuvers or carotid surgery on the healthy side. Carotid artery agenesis may be associated with type 2 neurofibromatosis, coarctation of the aorta, polycystic kidney disease, Klippel-Trenaunay syndrome agenesis of corpus the callosum,7 and congenital Horner syndrome. Internal carotid artery agenesis may also occur as part of PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac abnormalities/coarctation of the aorta, and eye abnormalities).8 Isolated oculomotor nerve palsies have also been reported to result from oculomotor nerve neuroma.9 In conclusion, isolated carotid artery agenesis can lead indirectly to congenital oculomotor palsy by increasing flow through the circle of Willis, resulting in flow aneurysms that cause focal compression of the oculomotor nerve. Congenital oculomotor nerve palsies should be investigated in depth with MRI and MRA. The need for investigation in this young age group, even in the absence of other neurological signs, is of paramount importance. The long life span of these children and the possibility of life-threatening complications warrants close follow-up and timely intervention.
Literature Search PubMed was searched on December 27, 2013, without language or date restriction, using the following terms:
Journal of AAPOS
Volume 18 Number 5 / October 2014
Ramappa et al
509
internal carotid artery (ICA) agenesis, internal carotid artery hypoplasia, congenital third nerve palsy, intracranial aneurysms in children, and associations of ICA agenesis.
References 1. Lie T. Congenital Anomalies of the Carotid Arteries. Amsterdam: Excerpta Medica Foundation; 1968:30-51. 2. Affiti AK, Godersky JC, Menezes A, Smoker WR, Bell WE, Jacoby CG. Cerebral hemiatrophy, hypoplasia of internal carotid artery and intracranial aneurysm: a rare association in an infant. Arch Neurol 1987;44:23. 3. Buis DR, van Ouwerkerk WJ, Takahata H, Vandertop WP. Intracranial aneurysms in children under 1 year of age: a systematic review of the literature. Childs Nerv Syst 2006;22:1395-409. 4. Van Raay Y, Darteyre S, Di Rocco F, et al. Neonatal ruptured intracranial aneurysm: case report and literature review. Childs Nerv Syst 2009;25:1025-33. 5. Lee JH, Oh CW, Lee SH, Han DH. Aplasia of the internal carotid artery. Acta Neurochir (Wien) 2003;145:117-25. 6. Cohen JE, Gomori JM, Leker RR. Internal carotid artery agenesis: diagnosis,clinical spectrum, associated conditions and its importance in the era of stroke interventions. Neurol Res 2010;32: 1027-32. 7. Clar os P, Bansdos R, Gilea I, et al. Case report: major congenital anomalies of the Internal carotid artery agenesis-aplasia and hypoplasia. Int J Paediatr Otorhinolaryngol 1999;49:69-76. 8. Monnier D, Pelletier F, Aubin F, Puzenat E, Moulin T, Humbert P. Incomplete expression of PHACE(S) syndrome: facial hemangioma associated with absence of the internal carotid artery [in French]. Ann Dermatol Venereol 2005;132:451-4. 9. Norman AA, Farris BK, Siatkowski RM. Neuroma as a cause of oculomotor palsy in infancy and early childhood. J AAPOS 2001;5:9-12.
FIG 1. Digital photograph of the index patient. A, Frontal view of face showing flat stickler-like facial features. B, Intense bluish discoloration of the sclera and steep corneal contour.
Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome Muralidhar Ramappa, MD,a,b M. Edward Wilson, MD,a R. Curtis Rogers, MD,c and Rupal H. Trivedi, MD, MSCRa
Author affiliations: aMiles Center for Pediatric Ophthalmology, Storm Eye Institute, Department of Ophthalmology, Medical University of South Carolina, Charleston; bCornea and Anterior Segment Services, L V Prasad Eye Institute, Kallam Anji Reddy Campus, Hyderabad, India; cGreenwood Genetics Center, Greenville Office, Greenville, South Carolina Financial support: Supported in part by an unrestricted grant to Storm Eye Institute from Research to Prevent Blindness Inc, New York, NY. Submitted September 23, 2013. Revision accepted June 14, 2014. Published online September 27, 2014. Correspondence: M. Edward Wilson, MD, Professor of Ophthalmology and Pediatrics, Edgar Miles, MD Endowed Chair, Storm Eye Institute, Medical University of South Carolina, Charleston, SC 29425-6760 (email: [email protected]). J AAPOS 2014;18:509-511. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2014.06.013
Journal of AAPOS
We report a 6-week-old white boy of nonconsanguineous parents who presented with bluish scleral discoloration, thin corneas, and progressive high myopia. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis and prompt measures were taken to manage the condition. Long-term follow-up of children diagnosed with brittle cornea syndrome is important to minimize the risks of corneal rupture and for detecting late-onset systemic conditions.
B
rittle cornea syndrome (BCS; MIM 229200 and 614170) is a rare connective tissue disorder that characteristically presents with extreme corneal thinning and increased corneal fragility, high myopia, blue sclera, deafness of mixed etiology with hypercompliant tympanic membranes, red hair, hyperelasticity of the skin without excessive fragility, and variable skeletal manifestations.1 The implicated causative missense mutations are in ZNF4692 in BCS-1 and frame shift deletion PRDM53 in BCS-2. BCS corneas are incompetent in maintaining their structural integrity and shape under normal biomechanical stresses and are predisposed to develop spontaneous rupture.
Cherungottil et al
507
8. Rohn R. Pseudotumor cerebri following treatment of hypothyroidism. Am J Dis Child 1985;139:752. 9. Raghavan S, DiMartino-Nardi J, Saenger P, Linder B. Pseudotumor cerebri in an infant after L-thyroxine therapy for transient neonatal hypothyroidism. J Pediatr 1997;130:478-80. 10. Strickler C, Pilon AF. Presumed levothyroxine-induced pseudotumor cerebri in a pediatric patient being treated for congenital hypothyroidism. Clin Ophthalmol 2007;1:545-9.
Congenital oculomotor nerve palsy due to effects of carotid artery agenesis Lakshmi Cherungottil, MS,a Shashikant Shetty, MS,a Perumalsamy Vijayalakshmi, MS,a Malay Kumar Dwivedi, MS,a Kaliappan Gurusamy Srinivasan, MD,b and Muniasamy Saravanan, MRCPc Isolated carotid artery agenesis is not generally recognized as a cause of congenital oculomotor nerve palsy. We report this rare association in 2 children and examine the underlying mechanism.
Case 1
A
7-year-old South Indian girl presented at the Paediatric Ophthalmology Department of Aravind Eye Hospital and Post Graduate Institute with a history of right upper eyelid ptosis and squinting of the same eye since birth. She had a normal perinatal period and normal milestones. Her medical history was unremarkable. There was no family history of any significant eye disease. On ophthalmological examination, visual acuity was 20/ 80 in the right eye, with no improvement with refractive correction or pinhole, and 20/20 in the left eye. There was an upper lid notch, with ptosis in the right eye and an epibulbar dermoid (Figure 1A). The right eye was exotropic and hypotropic; ocular motility was restricted in all directions except abduction. The pupil was dilated and fixed at 5 mm, with no signs of aberrant regeneration. Ocular motility in the left eye was full and unrestricted.
FIG 1. Patient 1. A, The right eye in exotropic and hypotropic position showing ptosis and temporal lid notch. B, T2-weighted cranial magnetic resonance (MR) imaging (axial view) showing the right posterior communicating artery aneurysm. C, 3D time-of-flight (TOF) cerebral angiogram axial view, superior) showing a deficient flow in the left internal carotid artery, normal flow in the right internal carotid artery, and the absence of high intensity signal flow void in the aneurysm. D, 3D TOF angiogram of the neck (coronal view) showing absent flow in the left internal carotid artery.
Retinal examination of both eyes was normal, but she showed perifoveal fixation in the right eye. She had no binocularity in primary or downgaze. There were no neurocutaneous abnormalities or other neurologic signs, and a thorough evaluation performed by the pediatrician ruled out systemic diseases. She was diagnosed with pupilinvolving congenital third (oculomotor) nerve palsy with amblyopia in her right eye. Magnetic resonance (MR) imaging and MR angiography revealed a right posterior communicating artery aneurysm (Figure 1B) compressing the oculomotor nerve, which explained the clinical features, but the aneurysm was already thrombosed, as indicated by the absence of flow void in the MR angiogram (Figure 1C). Additionally, she had a left internal carotid artery agenesis (Figure 1C,D), which led us to conclude that the lesion was a thrombosed “flow aneurysm,” which was congenital and did not mandate emergency intervention.
Case 2 Author affiliations: aAravind Eye Hospital and Post Graduate Institute of Ophthalmology, Madurai, Tamil Nadu, India; bKGS Advanced Scan Centre, Madurai, Tamil Nadu; cRio Advanced Children’s Hospital Madurai, Tamil Nadu Submitted December 30, 2013. Revision accepted June 12, 2014. Correspondence: Lakshmi Cherungottil, MS, Aravind Eye Hospital, 1 Anna Nagar, Madurai 625020, Tamil Nadu, India (email: [email protected]). J AAPOS 2014;18:507-509. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2014.06.014
Journal of AAPOS
A 40-day-old female infant was referred with a history of right upper eyelid ptosis, since birth. She had an uneventful perinatal history except for a patent ductus arteriosus which closed spontaneously and a small Atrial septal defect with left to right shunt, assessed by the cardiologist that was under observation. There was no family history of ptosis or eye disease. On initial examination, she had complete ptosis of the right eye (Figure 2A), which was fixed in the abducted
508
Cherungottil et al
FIG 2. Patient 2. A, Severe ptosis in the right eye. B, T2-weighted cranial MR fat suppression sequence (axial view) showing aneurysmal dilatation of the right internal carotid artery and posterior communicating artery with arteriovenous malformation in the paracavernous area. C, 3D TOF cerebral angiogram axial view, inferior) showing high-intensity signal flow void in the aneurysm with deficient flow in the left internal carotid artery. D, TOF angiogram of the neck (oblique sagittal view) showing hypoplastic left internal carotid artery and no flow through the same.
position. The right pupil was fixed at 4 mm and unreactive to light. There were no signs of aberrant regeneration. Left eye examination was unremarkable. Ocular motility of the right eye, assessed by doll’s eye maneuver, was limited in all directions except abduction. Dilated fundus showed no abnormality. She was evaluated in detail by a pediatrician and did not have any other neurological signs or significant neurocutaneous abnormalities. MR imaging and MR angiography revealed a hypoplastic left internal carotid artery and no flow in the same (Figure 2D), with aneurysmal dilatation of the right internal carotid artery and posterior communicating artery, with arteriovenous malformation in the paracavernous area compressing the oculomotor nerve (Figure 2B,C). She was referred to a neurosurgeon and an interventional radiologist for further evaluation and because of young age, high risk, and the absence of any other neurological deficit has been kept under close observation.
Discussion Acquired oculomotor nerve palsies in infants as the initial presentation of an intracranial aneurysm are rare. We report 2 children with internal carotid artery agenesis and hypoplasia and a resultant flow aneurysm at the junction between posterior communicating artery and internal carotid artery. This in turn caused focal compression of the third nerve presenting as congenital oculomotor palsy. To the best of our knowledge, this has not been previously documented.
Volume 18 Number 5 / October 2014 Agenesis of the internal carotid artery was first documented by angiography by Verbiest in 1954.1 Affiti and colleagues2 reported the incidence to be below 0.01% in the general population. The true incidence is unknown, however, because the diagnosis is made during radiologic evaluation for other reasons. Pediatric intracranial aneurysms are also rare (0.5%-4.6%); those in neonates account for fewer than 30 cases.3,4 Internal carotid artery malformations range from hypoplasia to absence of a single section and even complete absence. The internal carotid artery gives rise to the anterior and middle cerebral arteries, which irrigate most of the cerebral territory. The lack of flow through the carotid system is compensated for in most cases through the circle of Willis and, less frequently, by persistent embryologic vessels or by collaterals. Intracranial aneurysms have been reported in the anterior communicating artery, the posterior communicating artery, and in the cavernous internal carotid artery,5 the last two as in our patients. The main concern in internal carotid artery agenesis is the increased risk for aneurysms (67% vs 2%-4% in individuals without this condition5), risk of ischemia, and moyamoya syndrome. Increased risk for aneurysms may be due to the increased flow in the supplementary arteries (flow aneurysms). The recognition of aneurysms becomes important due to the fact that these patients are at a higher risk for subarachnoid hemorrhage and ischemia if the collateral circulation is insufficient.6 Additionally it is essential to be aware of the internal carotid artery agenesis during any interventional maneuvers or carotid surgery on the healthy side. Carotid artery agenesis may be associated with type 2 neurofibromatosis, coarctation of the aorta, polycystic kidney disease, Klippel-Trenaunay syndrome agenesis of corpus the callosum,7 and congenital Horner syndrome. Internal carotid artery agenesis may also occur as part of PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac abnormalities/coarctation of the aorta, and eye abnormalities).8 Isolated oculomotor nerve palsies have also been reported to result from oculomotor nerve neuroma.9 In conclusion, isolated carotid artery agenesis can lead indirectly to congenital oculomotor palsy by increasing flow through the circle of Willis, resulting in flow aneurysms that cause focal compression of the oculomotor nerve. Congenital oculomotor nerve palsies should be investigated in depth with MRI and MRA. The need for investigation in this young age group, even in the absence of other neurological signs, is of paramount importance. The long life span of these children and the possibility of life-threatening complications warrants close follow-up and timely intervention.
Literature Search PubMed was searched on December 27, 2013, without language or date restriction, using the following terms:
Journal of AAPOS
Volume 18 Number 5 / October 2014
Ramappa et al
509
internal carotid artery (ICA) agenesis, internal carotid artery hypoplasia, congenital third nerve palsy, intracranial aneurysms in children, and associations of ICA agenesis.
References 1. Lie T. Congenital Anomalies of the Carotid Arteries. Amsterdam: Excerpta Medica Foundation; 1968:30-51. 2. Affiti AK, Godersky JC, Menezes A, Smoker WR, Bell WE, Jacoby CG. Cerebral hemiatrophy, hypoplasia of internal carotid artery and intracranial aneurysm: a rare association in an infant. Arch Neurol 1987;44:23. 3. Buis DR, van Ouwerkerk WJ, Takahata H, Vandertop WP. Intracranial aneurysms in children under 1 year of age: a systematic review of the literature. Childs Nerv Syst 2006;22:1395-409. 4. Van Raay Y, Darteyre S, Di Rocco F, et al. Neonatal ruptured intracranial aneurysm: case report and literature review. Childs Nerv Syst 2009;25:1025-33. 5. Lee JH, Oh CW, Lee SH, Han DH. Aplasia of the internal carotid artery. Acta Neurochir (Wien) 2003;145:117-25. 6. Cohen JE, Gomori JM, Leker RR. Internal carotid artery agenesis: diagnosis,clinical spectrum, associated conditions and its importance in the era of stroke interventions. Neurol Res 2010;32: 1027-32. 7. Clar os P, Bansdos R, Gilea I, et al. Case report: major congenital anomalies of the Internal carotid artery agenesis-aplasia and hypoplasia. Int J Paediatr Otorhinolaryngol 1999;49:69-76. 8. Monnier D, Pelletier F, Aubin F, Puzenat E, Moulin T, Humbert P. Incomplete expression of PHACE(S) syndrome: facial hemangioma associated with absence of the internal carotid artery [in French]. Ann Dermatol Venereol 2005;132:451-4. 9. Norman AA, Farris BK, Siatkowski RM. Neuroma as a cause of oculomotor palsy in infancy and early childhood. J AAPOS 2001;5:9-12.
FIG 1. Digital photograph of the index patient. A, Frontal view of face showing flat stickler-like facial features. B, Intense bluish discoloration of the sclera and steep corneal contour.
Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome Muralidhar Ramappa, MD,a,b M. Edward Wilson, MD,a R. Curtis Rogers, MD,c and Rupal H. Trivedi, MD, MSCRa
Author affiliations: aMiles Center for Pediatric Ophthalmology, Storm Eye Institute, Department of Ophthalmology, Medical University of South Carolina, Charleston; bCornea and Anterior Segment Services, L V Prasad Eye Institute, Kallam Anji Reddy Campus, Hyderabad, India; cGreenwood Genetics Center, Greenville Office, Greenville, South Carolina Financial support: Supported in part by an unrestricted grant to Storm Eye Institute from Research to Prevent Blindness Inc, New York, NY. Submitted September 23, 2013. Revision accepted June 14, 2014. Published online September 27, 2014. Correspondence: M. Edward Wilson, MD, Professor of Ophthalmology and Pediatrics, Edgar Miles, MD Endowed Chair, Storm Eye Institute, Medical University of South Carolina, Charleston, SC 29425-6760 (email: [email protected]). J AAPOS 2014;18:509-511. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2014.06.013
Journal of AAPOS
We report a 6-week-old white boy of nonconsanguineous parents who presented with bluish scleral discoloration, thin corneas, and progressive high myopia. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis and prompt measures were taken to manage the condition. Long-term follow-up of children diagnosed with brittle cornea syndrome is important to minimize the risks of corneal rupture and for detecting late-onset systemic conditions.
B
rittle cornea syndrome (BCS; MIM 229200 and 614170) is a rare connective tissue disorder that characteristically presents with extreme corneal thinning and increased corneal fragility, high myopia, blue sclera, deafness of mixed etiology with hypercompliant tympanic membranes, red hair, hyperelasticity of the skin without excessive fragility, and variable skeletal manifestations.1 The implicated causative missense mutations are in ZNF4692 in BCS-1 and frame shift deletion PRDM53 in BCS-2. BCS corneas are incompetent in maintaining their structural integrity and shape under normal biomechanical stresses and are predisposed to develop spontaneous rupture.
