632
Cordero-Coma et al
Volume 17 Number 6 / December 2013
Preoperative cataract surgery use of an intravitreal dexamethasone implant (Ozurdex) in a patient with juvenile idiopathic arthritis and chronic anterior uveitis Miguel Cordero-Coma, MD, FEBOphth,a,b Irene Garzo, MD,a Sara Calleja, MD,b,c Elena Galan, MD,a Manuel Franco, MD,a,b and Jos e G. Ruız de Morales, MD, PhDb,c
We report a 6-year-old boy with anterior uveitis associated with juvenile idiopathic arthritis (JIA) who underwent cataract extraction in his right eye. One month before surgery he received an intravitreal sustained-release dexamethasone implant. During 10 months’ follow-up, his uveitis remained quiet. To our knowledge this is the first report using an intravitreal sustained-release dexamethasone implant as a perioperative anti-inflammatory medication.
R
ecent reports suggest that intraocular lens (IOL) implantation provides a better option than aphakia in patients with well controlled juvenile idiopathic arthritis, as in otherwise healthy adults. IOL implantation seems particularly preferable to contact lens correction in young children requiring unilateral surgery. Aggressive anti-inflammatory therapy before and after surgery in these challenging cases is mandatory.
Case Report A 6-year-old boy with a 4-year history of anterior uveitis associated with juvenile idiopathic arthritis (JIA) presented to the Uveitis Unit of the University Hospital of Le on with an advanced cataract in his right eye. His current therapeutic regimen included subcutaneous adalimumab. He had suffered from several relapses of his ocular inflammatory condition over the previous year. On ophthalmological examination, his best-corrected visual acuity was 20/80 in the right eye and 20/25 in the left eye. Intraocular pressure (IOP) measured 15 mm Hg in
Author affiliations: aDepartment of Ophthalmology; bUveitis Unit; and cDepartment of Immunology, University Hospital of Leon, Leon, Spain Submitted March 28, 2013. Revision accepted July 13, 2013. Published online November 9, 2013. Correspondence: Miguel Cordero-Coma, MD, FEBOphth, Hospital Universitario de Leon, c/ Altos de Nava s/n 24080, Leon, Spain (email: [email protected]). J AAPOS 2013;17:632-634. Copyright Ó 2013 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.07.014
FIG 1. Slit-lamp photograph of the right eye of a 6-year-old boy with uveitis 10 months after cataract extraction. Note the correctly positioned intraocular lens with small, superficial pigmented deposits and the absence of synechiae or pupillary membranes.
both eyes. Slit-lamp biomicroscopy of the right eye showed band keratopathy, miotic pupil secondary to extensive posterior synechiae, and a 11 flare with absence of anterior chamber cells (e-Supplement 1, available at jaapos.org). A fibrin membrane over the pupil and a cortical and posterior subcapsular cataract were also present. Posterior segment could not be consistently explored due to media opacity and lack of mydriasis and collaboration. In consideration of amblyopia risk, cataract surgery on his right eye was planned. To avoid or minimize postoperative activation of the inflammatory process, an intravitreal sustained-release dexamethasone implant (Ozurdex, Allergan Inc, Irvine, CA) was placed under general anesthesia using a standard operative technique.1 Cataract surgery with removal of the pupilary membrane, posterior capsulorhexis, retrolental vitrectomy, and IOL placement was performed 1 month later. Anterior chamber examination of the right eye showed 21 cells the day after the surgery. IOP measured 10 mm Hg. One month after the surgery anterior chamber examination showed no signs of active inflammation.
Journal of AAPOS
Volume 17 Number 6 / December 2013 Postoperative treatment included 1% prednisolone acetate drops starting from one drop 4 times daily, with progressive tapering until discontinuation after 1 month in addition to his current therapeutic regimen, without systemic corticosteroids. The patient did not suffer any flare-up during the following months. IOP was measured on a monthly basis for 6 months after surgery, during which period no measurement exceeded 15 mm Hg. Ophthalmological examination 10 months after the cataract surgery showed small pigmented deposits over the IOL (Figure 1). Postoperative best-corrected visual acuity in the right eye was 20/25.
Discussion Despite recent therapeutic progress, JIA-associated uveitis has a severe course and the potential for long-term complications, including blindness and, in more than half the cases, cataract.2,3 Phacoemulsification or pars plana lensectomy with anterior vitrectomy and subsequent aphakia can be effective in managing these patients.4,5 Indeed, historically uveitis specialists throughout the world have cautioned against primary placement of IOLs in patients with JIA undergoing cataract surgery because of increased risk of secondary cyclitic membranes and development of hypotony.4 Recent reports, however, suggest that IOLs may improve visual outcome in patients with JIA-associated uveitis under good control.6,7 Still, the presence itself of an IOL has been reported to incite recalcitrant inflammation, requiring implant removal.4 Nevertheless, IOL implantation seems preferable to contact lens correction in young children requiring unilateral surgery,8 particularly because JIA is associated with high prevalence of dry eye,9 band keratopathy,2 and poor compliance with contact lens wear in very young patients. Preoperative examination of our patient did not show signs of active inflammation, and cataract surgery might have been well tolerated in the absence of additional interventions. Although Grajewski and colleagues6 suggested the use of an intravitreal triamcinolone acetonide injection at the time of surgery, we decided to insert an intravitreal sustained-release dexamethasone implant 1 month before surgery to maximize the inflammatory control in such a challenging case. Preliminary results of the effect of biodegradable implants on IOP in this setting are encouraging,1 particularly compared to the well-known hypertensive effect of intravitreal triamcinolone, which requires topical drugs in up to 59% of the patients.10 Risk of increased IOP, considering the high prevalence of glaucoma in JIA-associated uveitis patients, or other side effect related to this intervention prompted us to advance the implant 1 month before surgery. Topical steroids were prescribed for 1 month after surgery—less than half of the usual period of postoperative treatment in chronic uveitis patients. The most common adverse events associated with intravitreal steroids include increases in IOP and cataract.
Journal of AAPOS
Cordero-Coma et al
633
Other potential complications related to any intravitreal procedure such as endophthalmitis and/or vitreous hemorrhage are much less common. To our knowledge, only one published retrospective case series (13 patients) reports on the use of intravitreal dexamethasone implant in pediatric uveitis patients.11 That work found no significant procedure-related complications were reported, but increased IOP requiring treatment was observed in 4 eyes. The pivotal study by Lowder and colleagues1 reported that most patients who developed an IOP of $25 mm Hg did so at by the first study visit (week 3) after implantation. Moreover, almost one-quarter of eyes achieved a vitreous haze score of 0 at that time-point after a single treatment. We thus felt that 1 month would provide enough time to observe the efficacy and any potential side effects related to the implant; additionly, 1 month is well within the reported overall duration of effect (measured as time-period showing efficacy in alleviating vitreous haze and improving best-corrected visual acuity), of up to 26 weeks in adults.1 Based on our experience in this case, we suggest that perioperative use of intravitreal dexamethasone implants in patients with JIA-associated uveitis undergoing cataract surgery with IOL implantation, particularly severe and/or refractory cases, may prevent postoperative inflammation. The best timing of their use is a matter for further investigation.
Literature Search MEDLINE was searched via OVID (last in June 2013) for the term juvenile idiopathic arthritis in conjunction with one or more of the following terms: uveitis, implant, dexamethasone implant, and Ozurdex.
References 1. Lowder C, Belfort R Jr, Lightman S, et al. Ozurdex HURON Study Group. Dexamethasone intravitreal implant for noninfectious intermediate or posterior uveitis. Arch Ophthalmol 2011;129:545-53. 2. Kump LI, Casta~ neda RA, Androudi SN, Reed GF, Foster CS. Visual outcomes in children with juvenile idiopathic arthritis-associated uveitis. Ophthalmology 2006;113:1874-7. 3. Ozdal PC, Vianna RN, Desch^enes J. Visual outcome of juvenile rheumatoid arthritis-associated uveitis in adults. Ocul Immunol Inflamm 2005;13:33-8. 4. Holland GN. Intraocular lens implantation in patients with juvenile rheumatoid arthritis-associated uveitis: an unresolved management issue. Am J Ophthalmol 1996;122:255-7. 5. Verbraeken H. pars plana lensectomy in cases of cataract with juvenile chronic uveitis. Graefes Arch Clin Exp Ophthalmol 1996; 234:618-22. 6. Grajewski RS, Zurek-Imhoff B, Roesel M, Heinz C, Heiligenhaus A. Favourable outcome after cataract surgery with IOL implantation in uveitis associated with juvenile idiopathic arthritis. Acta Ophthalmol 2012;90:657-62. 7. Terrada C, Julian K, Cassoux N, et al. Cataract surgery with primary intraocular lens implantation in children with uveitis: long-term outcomes. J Cataract Refract Surg 2011;37:1977-83. 8. BenEzra D, Cohen E. Cataract surgery in children with chronic uveitis. Ophthalmology 2000;107:1255-60.
634
McElnea et al
9. Akinci A, Cakar N, Uncu N, Kara N, Acaroglu G. Keratoconjunctivitis sicca in juvenile rheumatoid arthritis. Cornea 2007;26: 941-4. 10. Yilmaz T, Cordero-Coma M, Lavaque AJ, Gallagher MJ, Padula WV. Triamcinolone and intraocular sustained-release deliv-
Volume 17 Number 6 / December 2013 ery systems in diabetic retinopathy. Curr Pharm Biotechnol 2011; 12:337-46. 11. Taylor SR, Tomkins-Netzer O, Joshi L, Morarji J, McLoone E, Lightman S. Dexamethasone implant in pediatric uveitis. Ophthalmology 2012;119:2412-2412.e2.
Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity Elizabeth M. McElnea, MRCOph,a Nick van der Spek, FRCP, FRCPI,b Owen Smith, FRCPI, FRCPCH,c Susan Fitzsimon, MD, FRCSI, FRCOph,a Chetan K. Patel, FRCOph,d and Aengus O’Marcaigh, MD, FRCPIc
Dyskeratosis congenita is a group of rare genetic bone marrow failure syndromes. Revesz syndrome, a variant disorder, is characterized by retinopathy, aplastic anemia, nail dystrophy, and cerebellar hypoplasia. We report the case of an 11-month-old boy with bilateral cicatricial retinal detachments associated with fibrovascular proliferation. Genetic testing ultimately confirmed a diagnosis of Revesz syndrome, which can mimic cicatricial retinopathy of prematurity. Prompt referral to a hematologist expedites diagnosis and treatment.
Case Report
A
male infant was born at 31 weeks and 3 days gestational age with birth weight 1.64 kg by normal vaginal delivery following spontaneous onset of labor after an uneventful pregnancy. Following birth, he was treated for mild respiratory distress with nasal continuous positive airway pressure at maximum FiO2 of 31% for 48 hours. His gestational age and birth weight made ROP unlikely and precluded his inclusion in the local screening program. He displayed generalized hypotonia and delayed motor development. Magnetic resonance imaging (MRI) of the brain revealed focal cerebral changes and cerebellar hypoplasia (Figure 1). His vision failed to develop properly, and at 11 months of age he was referred to the Ophthalmology Department, Temple Street Children’s University Hospital, for ophthalmological assessment. On examination, he was unable to fix and follow. A right relative afferent pupillary
Author affiliations: aOphthalmology Department, Children’s University Hospital Temple Street, Dublin, Ireland; bDepartment of Paediatrics, Cavan General Hospital, Cavan, Ireland; c Haematology Department, Our Lady’s Children’s Hospital Crumlin, Dublin, Ireland; d Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxfordshire United Kingdom Submitted March 9, 2013. Revision accepted July 20, 2013. Correspondence: Elizabeth M. McElnea, MD, MRCOphth, Ophthalmology Department, Children’s University Hospital Temple Street, Dublin, Ireland (email: mcelneaelizabeth@ gmail.com). J AAPOS 2013;17:634-636. Copyright Ó 2013 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.07.016
FIG 1. A, Axial T2-weighted magnetic resonance imaging (MRI) of the brain performed at age 7 months showing multiple periventricular white matter changes. B, Sagittal T1-weighted FLAIR MIR of the brain showing pronounced cerebellar hypoplasia.
Journal of AAPOS
Cordero-Coma et al
Volume 17 Number 6 / December 2013
Preoperative cataract surgery use of an intravitreal dexamethasone implant (Ozurdex) in a patient with juvenile idiopathic arthritis and chronic anterior uveitis Miguel Cordero-Coma, MD, FEBOphth,a,b Irene Garzo, MD,a Sara Calleja, MD,b,c Elena Galan, MD,a Manuel Franco, MD,a,b and Jos e G. Ruız de Morales, MD, PhDb,c
We report a 6-year-old boy with anterior uveitis associated with juvenile idiopathic arthritis (JIA) who underwent cataract extraction in his right eye. One month before surgery he received an intravitreal sustained-release dexamethasone implant. During 10 months’ follow-up, his uveitis remained quiet. To our knowledge this is the first report using an intravitreal sustained-release dexamethasone implant as a perioperative anti-inflammatory medication.
R
ecent reports suggest that intraocular lens (IOL) implantation provides a better option than aphakia in patients with well controlled juvenile idiopathic arthritis, as in otherwise healthy adults. IOL implantation seems particularly preferable to contact lens correction in young children requiring unilateral surgery. Aggressive anti-inflammatory therapy before and after surgery in these challenging cases is mandatory.
Case Report A 6-year-old boy with a 4-year history of anterior uveitis associated with juvenile idiopathic arthritis (JIA) presented to the Uveitis Unit of the University Hospital of Le on with an advanced cataract in his right eye. His current therapeutic regimen included subcutaneous adalimumab. He had suffered from several relapses of his ocular inflammatory condition over the previous year. On ophthalmological examination, his best-corrected visual acuity was 20/80 in the right eye and 20/25 in the left eye. Intraocular pressure (IOP) measured 15 mm Hg in
Author affiliations: aDepartment of Ophthalmology; bUveitis Unit; and cDepartment of Immunology, University Hospital of Leon, Leon, Spain Submitted March 28, 2013. Revision accepted July 13, 2013. Published online November 9, 2013. Correspondence: Miguel Cordero-Coma, MD, FEBOphth, Hospital Universitario de Leon, c/ Altos de Nava s/n 24080, Leon, Spain (email: [email protected]). J AAPOS 2013;17:632-634. Copyright Ó 2013 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.07.014
FIG 1. Slit-lamp photograph of the right eye of a 6-year-old boy with uveitis 10 months after cataract extraction. Note the correctly positioned intraocular lens with small, superficial pigmented deposits and the absence of synechiae or pupillary membranes.
both eyes. Slit-lamp biomicroscopy of the right eye showed band keratopathy, miotic pupil secondary to extensive posterior synechiae, and a 11 flare with absence of anterior chamber cells (e-Supplement 1, available at jaapos.org). A fibrin membrane over the pupil and a cortical and posterior subcapsular cataract were also present. Posterior segment could not be consistently explored due to media opacity and lack of mydriasis and collaboration. In consideration of amblyopia risk, cataract surgery on his right eye was planned. To avoid or minimize postoperative activation of the inflammatory process, an intravitreal sustained-release dexamethasone implant (Ozurdex, Allergan Inc, Irvine, CA) was placed under general anesthesia using a standard operative technique.1 Cataract surgery with removal of the pupilary membrane, posterior capsulorhexis, retrolental vitrectomy, and IOL placement was performed 1 month later. Anterior chamber examination of the right eye showed 21 cells the day after the surgery. IOP measured 10 mm Hg. One month after the surgery anterior chamber examination showed no signs of active inflammation.
Journal of AAPOS
Volume 17 Number 6 / December 2013 Postoperative treatment included 1% prednisolone acetate drops starting from one drop 4 times daily, with progressive tapering until discontinuation after 1 month in addition to his current therapeutic regimen, without systemic corticosteroids. The patient did not suffer any flare-up during the following months. IOP was measured on a monthly basis for 6 months after surgery, during which period no measurement exceeded 15 mm Hg. Ophthalmological examination 10 months after the cataract surgery showed small pigmented deposits over the IOL (Figure 1). Postoperative best-corrected visual acuity in the right eye was 20/25.
Discussion Despite recent therapeutic progress, JIA-associated uveitis has a severe course and the potential for long-term complications, including blindness and, in more than half the cases, cataract.2,3 Phacoemulsification or pars plana lensectomy with anterior vitrectomy and subsequent aphakia can be effective in managing these patients.4,5 Indeed, historically uveitis specialists throughout the world have cautioned against primary placement of IOLs in patients with JIA undergoing cataract surgery because of increased risk of secondary cyclitic membranes and development of hypotony.4 Recent reports, however, suggest that IOLs may improve visual outcome in patients with JIA-associated uveitis under good control.6,7 Still, the presence itself of an IOL has been reported to incite recalcitrant inflammation, requiring implant removal.4 Nevertheless, IOL implantation seems preferable to contact lens correction in young children requiring unilateral surgery,8 particularly because JIA is associated with high prevalence of dry eye,9 band keratopathy,2 and poor compliance with contact lens wear in very young patients. Preoperative examination of our patient did not show signs of active inflammation, and cataract surgery might have been well tolerated in the absence of additional interventions. Although Grajewski and colleagues6 suggested the use of an intravitreal triamcinolone acetonide injection at the time of surgery, we decided to insert an intravitreal sustained-release dexamethasone implant 1 month before surgery to maximize the inflammatory control in such a challenging case. Preliminary results of the effect of biodegradable implants on IOP in this setting are encouraging,1 particularly compared to the well-known hypertensive effect of intravitreal triamcinolone, which requires topical drugs in up to 59% of the patients.10 Risk of increased IOP, considering the high prevalence of glaucoma in JIA-associated uveitis patients, or other side effect related to this intervention prompted us to advance the implant 1 month before surgery. Topical steroids were prescribed for 1 month after surgery—less than half of the usual period of postoperative treatment in chronic uveitis patients. The most common adverse events associated with intravitreal steroids include increases in IOP and cataract.
Journal of AAPOS
Cordero-Coma et al
633
Other potential complications related to any intravitreal procedure such as endophthalmitis and/or vitreous hemorrhage are much less common. To our knowledge, only one published retrospective case series (13 patients) reports on the use of intravitreal dexamethasone implant in pediatric uveitis patients.11 That work found no significant procedure-related complications were reported, but increased IOP requiring treatment was observed in 4 eyes. The pivotal study by Lowder and colleagues1 reported that most patients who developed an IOP of $25 mm Hg did so at by the first study visit (week 3) after implantation. Moreover, almost one-quarter of eyes achieved a vitreous haze score of 0 at that time-point after a single treatment. We thus felt that 1 month would provide enough time to observe the efficacy and any potential side effects related to the implant; additionly, 1 month is well within the reported overall duration of effect (measured as time-period showing efficacy in alleviating vitreous haze and improving best-corrected visual acuity), of up to 26 weeks in adults.1 Based on our experience in this case, we suggest that perioperative use of intravitreal dexamethasone implants in patients with JIA-associated uveitis undergoing cataract surgery with IOL implantation, particularly severe and/or refractory cases, may prevent postoperative inflammation. The best timing of their use is a matter for further investigation.
Literature Search MEDLINE was searched via OVID (last in June 2013) for the term juvenile idiopathic arthritis in conjunction with one or more of the following terms: uveitis, implant, dexamethasone implant, and Ozurdex.
References 1. Lowder C, Belfort R Jr, Lightman S, et al. Ozurdex HURON Study Group. Dexamethasone intravitreal implant for noninfectious intermediate or posterior uveitis. Arch Ophthalmol 2011;129:545-53. 2. Kump LI, Casta~ neda RA, Androudi SN, Reed GF, Foster CS. Visual outcomes in children with juvenile idiopathic arthritis-associated uveitis. Ophthalmology 2006;113:1874-7. 3. Ozdal PC, Vianna RN, Desch^enes J. Visual outcome of juvenile rheumatoid arthritis-associated uveitis in adults. Ocul Immunol Inflamm 2005;13:33-8. 4. Holland GN. Intraocular lens implantation in patients with juvenile rheumatoid arthritis-associated uveitis: an unresolved management issue. Am J Ophthalmol 1996;122:255-7. 5. Verbraeken H. pars plana lensectomy in cases of cataract with juvenile chronic uveitis. Graefes Arch Clin Exp Ophthalmol 1996; 234:618-22. 6. Grajewski RS, Zurek-Imhoff B, Roesel M, Heinz C, Heiligenhaus A. Favourable outcome after cataract surgery with IOL implantation in uveitis associated with juvenile idiopathic arthritis. Acta Ophthalmol 2012;90:657-62. 7. Terrada C, Julian K, Cassoux N, et al. Cataract surgery with primary intraocular lens implantation in children with uveitis: long-term outcomes. J Cataract Refract Surg 2011;37:1977-83. 8. BenEzra D, Cohen E. Cataract surgery in children with chronic uveitis. Ophthalmology 2000;107:1255-60.
634
McElnea et al
9. Akinci A, Cakar N, Uncu N, Kara N, Acaroglu G. Keratoconjunctivitis sicca in juvenile rheumatoid arthritis. Cornea 2007;26: 941-4. 10. Yilmaz T, Cordero-Coma M, Lavaque AJ, Gallagher MJ, Padula WV. Triamcinolone and intraocular sustained-release deliv-
Volume 17 Number 6 / December 2013 ery systems in diabetic retinopathy. Curr Pharm Biotechnol 2011; 12:337-46. 11. Taylor SR, Tomkins-Netzer O, Joshi L, Morarji J, McLoone E, Lightman S. Dexamethasone implant in pediatric uveitis. Ophthalmology 2012;119:2412-2412.e2.
Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity Elizabeth M. McElnea, MRCOph,a Nick van der Spek, FRCP, FRCPI,b Owen Smith, FRCPI, FRCPCH,c Susan Fitzsimon, MD, FRCSI, FRCOph,a Chetan K. Patel, FRCOph,d and Aengus O’Marcaigh, MD, FRCPIc
Dyskeratosis congenita is a group of rare genetic bone marrow failure syndromes. Revesz syndrome, a variant disorder, is characterized by retinopathy, aplastic anemia, nail dystrophy, and cerebellar hypoplasia. We report the case of an 11-month-old boy with bilateral cicatricial retinal detachments associated with fibrovascular proliferation. Genetic testing ultimately confirmed a diagnosis of Revesz syndrome, which can mimic cicatricial retinopathy of prematurity. Prompt referral to a hematologist expedites diagnosis and treatment.
Case Report
A
male infant was born at 31 weeks and 3 days gestational age with birth weight 1.64 kg by normal vaginal delivery following spontaneous onset of labor after an uneventful pregnancy. Following birth, he was treated for mild respiratory distress with nasal continuous positive airway pressure at maximum FiO2 of 31% for 48 hours. His gestational age and birth weight made ROP unlikely and precluded his inclusion in the local screening program. He displayed generalized hypotonia and delayed motor development. Magnetic resonance imaging (MRI) of the brain revealed focal cerebral changes and cerebellar hypoplasia (Figure 1). His vision failed to develop properly, and at 11 months of age he was referred to the Ophthalmology Department, Temple Street Children’s University Hospital, for ophthalmological assessment. On examination, he was unable to fix and follow. A right relative afferent pupillary
Author affiliations: aOphthalmology Department, Children’s University Hospital Temple Street, Dublin, Ireland; bDepartment of Paediatrics, Cavan General Hospital, Cavan, Ireland; c Haematology Department, Our Lady’s Children’s Hospital Crumlin, Dublin, Ireland; d Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxfordshire United Kingdom Submitted March 9, 2013. Revision accepted July 20, 2013. Correspondence: Elizabeth M. McElnea, MD, MRCOphth, Ophthalmology Department, Children’s University Hospital Temple Street, Dublin, Ireland (email: mcelneaelizabeth@ gmail.com). J AAPOS 2013;17:634-636. Copyright Ó 2013 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.07.016
FIG 1. A, Axial T2-weighted magnetic resonance imaging (MRI) of the brain performed at age 7 months showing multiple periventricular white matter changes. B, Sagittal T1-weighted FLAIR MIR of the brain showing pronounced cerebellar hypoplasia.
Journal of AAPOS
