Journal of Pediatric Ophthalmology and Strabismus

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Short Subjects 

Pseudopapilledema in Kenny–Caffey Syndrome

Laurence Beral, MD; Angélique Donnio, MD; Albert Jean-Charles, MD; Harold Merle, MD

Abstract

A 21-year-old man with Kenny–Caffey syndrome had been observed since 1993 for hyperopia. Fundus examination revealed swollen optic disks. Further examinations (fluorescein angiography, B-scan ultrasonography, and optical coherence tomography) confirmed the optic nerve head elevation. The authors report a rare case of Kenny–Caffey syndrome with extreme pseudopapilledema. Although uncommon, ophthalmologists should be mindful of this disorder when a patient presents with characteristic findings because severe electrolyte disturbances may complicate the clinical course.

Abstract

A 21-year-old man with Kenny–Caffey syndrome had been observed since 1993 for hyperopia. Fundus examination revealed swollen optic disks. Further examinations (fluorescein angiography, B-scan ultrasonography, and optical coherence tomography) confirmed the optic nerve head elevation. The authors report a rare case of Kenny–Caffey syndrome with extreme pseudopapilledema. Although uncommon, ophthalmologists should be mindful of this disorder when a patient presents with characteristic findings because severe electrolyte disturbances may complicate the clinical course.

From the Service d’Ophtalmologie, Centre Hospitalier Universitaire de Fort de France, Martinique, France.

The authors have no financial or proprietary interest in the materials presented herein.

Address correspondence to Laurence Beral, MD, Service d’Ophtalmologie, Centre Hospitalier Universitaire de Fort de France, Hôpital Pierre Zobda-Quitman, BP 632, 97261 Fort de France Cedex, Martinique, France.

Received: December 18, 2008
Accepted: April 13, 2009
Posted Online: May 21, 2010

Introduction

Kenny–Caffey syndrome is a rare hereditary multisystem syndrome, first reported in 1966 by Kenny and Linarelli, that is characterized by dwarfism, cortical thickening of the long bones, transient hypocalcemia with hypoparathyroidism at an early age, and normal intelligence. Ocular findings range from microphthalmia with hyperopia to extreme optic disk swelling.1 We describe a patient with Kenny–Caffey syndrome and a bilateral massive optic disk head elevation.

Case Report

A 21-year-old black man with Kenny–Caffey syndrome had been observed in our service since 1993 for hyperopia. He was born at 40 weeks of gestation of non-consanguineous parents. His family history was noncontributory. Postnatally, he was referred to the neonatal intensive care unit for twitching movements of his limbs and was subsequently treated for transient hypocalcemia. Cerebral magnetic resonance imaging was normal. A diagnosis of hypoparathyroidism was made and vitamin D and calcium therapy was instituted. He presented dysmorphic features including dwarfism and prominent forehead.

Refraction disclosed hyperopia (+11.50 in the right eye and +12.00 in the left eye). Visual acuity was 20/30 in the right eye and 20/40 in the left eye. Horizontal corneal diameters were 9 mm. Anterior segment examination revealed shallow anterior chambers. Both optic nerves appeared elevated with retinal vascular tortuosity but no hemorrhage at the disk margin (Fig. 1). Fluorescein angiography displayed neither optic nerve drusen nor fluorescein leakage (Fig. 2). Optical coherence tomography illustrated the optic nerve head elevation with a greater retinal nerve fiber layer thickness in the superior and inferior quadrants. It also displayed a severe thinning temporally (Fig. 3). Axial length was 17.40 mm in the right eye and 17.33 mm in the left eye as measured with A-scan ultrasonography, demonstrating bilateral microphthalmia. B-scan ultrasonography profile delineated the convexity of the optic nerve head with protruding tissue in both eyes. Visual field test showed a bilateral enlargement of the blind spot. There was no peripheral field defect.

Fundus Photograph of the Right Eye Showing Pseudopapilledema with Blurred Margins.

Figure 1. Fundus Photograph of the Right Eye Showing Pseudopapilledema with Blurred Margins.

Fluorescein Angiography of the Left Eye Showing Elevation of the Optic Nerve Head. There Is No Fluorescein Leakage.

Figure 2. Fluorescein Angiography of the Left Eye Showing Elevation of the Optic Nerve Head. There Is No Fluorescein Leakage.

Optical Coherence Tomography of the Right Eye (Retinal Nerve Fiber Layer Thickness) Showing Increased Retinal Nerve Fiber Layer Thickness in the Superior and Inferior Quadrants and Severe Thinning Temporally.

Figure 3. Optical Coherence Tomography of the Right Eye (Retinal Nerve Fiber Layer Thickness) Showing Increased Retinal Nerve Fiber Layer Thickness in the Superior and Inferior Quadrants and Severe Thinning Temporally.

Discussion

There are few cases of Kenny–Caffey syndrome described in the literature and, to our knowledge, we report the first case in a black individual. Considering the dysmorphic feature of our patient, another diagnosis could have been considered: the syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism, and extreme growth failure (HRD) or Sanjad–Sakati syndrome.2 Parvari et al. demonstrated that both autosomal recessive Kenny–Caffey syndrome and HRD are caused by mutations in Tubulin-specific chaperone E.3

Our patient presented with physical abnormalities (growth retardation and prominent forehead) that are found in HRD. However, several other findings are more characteristic of Kenny–Caffey syndrome. First, our patient was an Afro-Caribbean man, whereas HRD is mainly described in those of Arabic origin. Second, our patient did not have mental retardation, which has been described in HRD but not in Kenny–Caffey syndrome.3 Moreover, although ocular manifestations have been described in HRD, they do not include pseudopapilledema.4,5

Ocular abnormalities are more commonly described in Kenny–Caffey syndrome, being found in 73% of patients, and range from uncomplicated nanophthalmos with hyperopia to extreme pseudopapilledema, vascular tortuosity, and macular crowding. Band keratopathy, strabismus, cataract, glaucoma, bilateral optic atrophy, and myelinated nerve fibers can also be found.1,6–9 However, there are only 8 cases of pseudopapilledema reported and the pathophysiologic mechanisms responsible for this optic nerve head elevation remain poorly understood. Some authors suggest that the presence of small calcified drusen-like bodies within the optic nerve may be responsible for pseudopapilledema in patients with Kenny–Caffey syndrome.9 These drusen could be the consequence of a small scleral aperture compromising the flow of axoplasm. However, we cannot apply this hypothesis in our case. We did not find any drusen on fluorescein angiography, cerebral imaging, or ocular ultrasonography.

Thanks to the histopathologic evaluation of enucleated nanophthalmic eyes from a patient with Kenny–Caffey syndrome, the same authors suggest a lateral displacement of the peripapillary retina due to a bulging of the edge of the disk tissue as another explanation for this pseudopapilloedema.9 We could not confirm this assertion histopathologically. A possible explanation for the absence of drusen-like bodies and optic atrophy in our patient is that the disk area and scleral canal are larger in black individuals than in whites.10 Therefore, it would be less likely that axoplasmic flow would be compromised.

We report a rare case of Kenny–Caffey syndrome. The constellation of nanophthalmos with varying degrees of optic nerve head elevation and hyperopia, proportionate growth deficit, normal intelligence, and stenosis of the medullary space of the long bones should lead the clinician to consider this rare syndrome. Because potentially dangerous electrolyte imbalances are not uncommon in patients with Kenny–Caffey syndrome, the ophthalmologist may provide a valuable service in helping to establish this diagnosis.

References

  1. Rebolleda Fernández G, Muñoz Negrete FJ, Garcia Martín B, Lozano C. Bilateral optic atrophy in Kenny’s syndrome. Acta Ophthalmol. 1992;70:135–138. doi:10.1111/j.1755-3768.1992.tb02106.x [CrossRef]
  2. Sanjad SA, Sakati NA, Abu-Osba YK, Kaddoura R, Milner RD. A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Child. 1991;66:193–196. doi:10.1136/adc.66.2.193 [CrossRef]
  3. Parvari R, Hershkovitz E, Grossman N, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet. 2002;32:448–452. doi:10.1038/ng1012 [CrossRef]
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  6. Timoney P, Darcy F, McCreery K, Reardon W, Brosnahan D. Characterization of optical coherence tomography findings in Kenny-Caffey syndrome. J AAPOS. 2007;11:291–293. doi:10.1016/j.jaapos.2006.09.020 [CrossRef]
  7. Serrano JC, Hodgkins PR, Taylor DSI, Gole GA, Kriss A. The nanophthalmic macula. Br J Ophthalmol. 1998;82:276–279. doi:10.1136/bjo.82.3.276 [CrossRef]
  8. Spitzanas M, Gerke E, Bateman JB. Hereditary posterior microphthalmos with papillomacular fold and high hyperopia. Arch Ophthalmol. 1983;101:413–417.
  9. Boynton JR, Pheasant TR, Johnson BL, Levin DB, Streeten BW. Ocular findings in Kenny’s syndrome. Arch Ophthalmol. 1979;97:896–900.
  10. Girkin CA, McGwin G Jr, Xie A, Deleon-Ortega J. Difference in optic disk topography between black and white normal subjects. Ophthalmology. 2005;112:33–39. doi:10.1016/j.ophtha.2004.07.029 [CrossRef]
Authors

From the Service d’Ophtalmologie, Centre Hospitalier Universitaire de Fort de France, Martinique, France.

The authors have no financial or proprietary interest in the materials presented herein.

Address correspondence to Laurence Beral, MD, Service d’Ophtalmologie, Centre Hospitalier Universitaire de Fort de France, Hôpital Pierre Zobda-Quitman, BP 632, 97261 Fort de France Cedex, Martinique, France.

10.3928/01913913-20090918-03

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