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Show Journal of Neuro- Ophthalmology 18( 1): 60- 65, 1998. © 1998 Lippincott- Raven Publishers, Philadelphia Optic Nerve Head Swelling in the Hadju- Cheney Syndrome Karl C. Golnik, M. D., and Robert C. Kersten, M. D. The Hadju- Cheney syndrome is one of the idiopathic acro-osteolyses. Associated neurologic abnormalities are often a result of progressive basilar invagination. A 48- year- old man with the Hadju- Cheney syndrome developed progressive bilateral visual loss. On examination, he had hyperopia, choroidal folds, optic nerve head swelling, and mild optic neuropathy. Computed tomographic scans showed massive enlargement of both intraorbital optic nerve sheaths. Improvement occurred after optic nerve sheath fenestration. Visual loss due to optic nerve meningocele can occur in the Hadju- Cheney syndrome. Optic nerve sheath fenestration can result in visual improvement. It is unclear whether the occurrence of optic nerve meningocele is causally or fortuitously related to the Hadju- Cheney syndrome. Key Words: Hadju- Cheney syndrome- Optic nerve meningocele. Idiopathic acro- osteolysis is characterized by painful osteolysis of the distal phalanges. The Hadju- Cheney syndrome is one of the idiopathic acro- osteolyses further characterized by dolichocephaly, open cranial sutures, basilar invagination, multiple wormian bones, early loss of teeth, characteristic facies, and short stature ( 1,2). A variety of neurologic conditions, including cranial nerve palsies ( 1,3), trigeminal neuralgia ( 4), hemifacial spasm ( 5), syringohydromyelia ( 6), and hydrocephalus ( 7,8), have been associated with this syndrome. Reported ophthalmologic abnormalities include nystagmus ( 1), hypertelorism ( 4,6,8,9), and optic disc pallor ( 1,9). We report the case of a patient with the Hadju- Cheney syndrome and visual loss due to massive enlargement of both intraorbital optic nerve sheaths. CASE REPORT A 48- year- old man complained of gradually decreasing vision over several years. His refraction had become two diopters more hyperopic over the preceding 18 months. In December 1995, he was noted to have right optic nerve head swelling and referred for neuro-ophthalmic examination. At that time, he noted episodes Manuscript accepted 7/ 30/ 97. From the Department of Ophthalmology ( K. C. G.), University of Cincinnati; and Cincinnati Eye Institute ( R. C. K.), Cincinnati, Ohio, U. S. A. Address correspondence and reprint requests to Dr. K. C. Golnik, 10494 Montgomery Road, Cincinnati, OH 45242, U. S. A. of unilateral and bilateral visual loss of 5- 10 s in duration. He denied tinnitus and diplopia. There had been no change in headache frequency or character, which he described as weekly, frontal, and stress related. His past medical history included only loss of all teeth in his mid- 20s, and over the past 5 years he had required several reconstructive joint surgeries, including compressive groove plate fixation of the left wrist. At 18 months prior to our evaluation, the Hadju- Cheney syndrome had been diagnosed, based on radiographic appearance, loss of teeth, and external appearance. Examination revealed that the patient had a broad forehead, hypertelorism, a sunken midface ( Fig. 1), and FIG. 1. Profile of the patient showing sunken midface and bushy eyebrows. 60 HADJU- CHENEY SYNDROME 61 marked clubbing and shortening of his digits ( Fig. 2). He was 66 inches tall and weighed 132 pounds. Visual acuity was 20/ 25 OD, 20/ 20 OS with correction of + 5.00 + 1.50 x 01 OD and + 4.50 + 1.25 x 01 OS. He correctly identified 9 of 10 Hardy- Rand- Rittler color plates OD and 10 of 10 OS. His pupils were briskly reactive with an equivocal right relative afferent pupillary defect. Automated static perimetry showed mild enlargement of both blind spots and generalized depression OD > OS ( Fig. 3). His ocular motility was normal. Fundoscopy showed mild right optic nerve head swelling and bilateral choroidal folds ( Fig. 4). Neuroimaging was the first diagnostic consideration because of his known underlying condition. Magnetic resonance ( MR) images could not be obtained because of numerous orthopedic metallic fixation plates. The results of computed tomography of the brain were normal, but massive enlargement of both intraorbital optic nerve sheaths was apparent; both optic nerves appeared normal ( Fig. 5). Basilar invagination was not present, and ventricles were normal in size. Lumbar puncture showed both normal opening pressure ( 100 mm H20) and cerebrospinal fluid ( CSF) composition. Right optic nerve sheath fenestration was performed via the lateral approach ( 10). The nerve sheath was markedly distended and bluish. Serosanguinous fluid escaped as the sheath incision was made. Sheath biopsy showed noninflammatory fibrous tissue consistent with normal arachnoid sheath. Postoperatively, transient visual obscurations ceased and visual field improved ( Fig. 6), as did right optic nerve head swelling ( Fig. 7). DISCUSSION Dissolution of bone in the phalanges ( acro- osteolysis) can be idiopathic or a result of a variety of insults, in- FIG. 2. A: There is marked shortening and thickening ( pseudoclubbing) of all digits. B: This radiograph shows loss of calcium in all phalanges ( acro- osteolysis). J Neuro- Ophthalmol, Vol. IS, No. I. 1998 62 A:, C. GOLNIK AND R. C. KERSTEN RX USED + 7.88 OS + i .25 OCX 1 DEC PUPIL D1M1ETER 3.9 M Vfi 28/ 25 B FIG. 3. Humphrey automated static perimetry ( program 24- 2). A: Left eye: insignificant peripheral constriction is present; the blind spot is normal in size. B: Right eye: the blind spot is enlarged and there is moderate peripheral constriction. eluding trauma, toxins, infection, and ischemia ( 11). Acro- osteolysis has been reported in association with scleroderma, sarcoidosis, and rheumatoid syndromes ( 11- 13). The idiopathic acro- osteolyses are generally divided into three groups based on the pattern of bone involvement: ( a) phalangeal, ( b) tarsocarpal, and ( c) multicentric ( 14). The Hadju- Cheney syndrome ( type- VI idiopathic osteolysis) is multicentric and characterized by acro- osteolysis, cranial osteodysplasia, and generalized osteoporosis of vertebrae and long bones. Afflicted individuals have characteristic fades ( midfacial flattening, receding chin, and low- set ears), premature loss of teeth, occipital prominence, joint laxity, pseudoclubbing of digits, and short stature ( 1- 9). Recently, cystic renal disease has been considered an important component of this syndrome ( 15). Inheritance is either autosomal dominant or sporadic ( 1,2,5,16,17). Neurologic impairment is usually related to basilar invagination, which can result in marked angulation of the brainstem, redundancy of blood vessels, and impairment of CSF outflow. Resulting pressure and/ or stretching of cranial nerves has been reported to cause trigeminal neuralgia ( 4), corneal anesthesia ( 3,5), ophthalmoplegia ( 1,3), hemifacial spasm ( 5), and hearing loss ( 1,9,14). Ophthalmoplegia may result when one or both abducens nerves are affected by direct compression, stretching, or increased intracranial pressure. Oculomotor and trochlear nerve palsies have not been reported. Hydrocephalus may require neurosurgical intervention ( 7,8,15). Afferent visual system involvement seems to be limited to the optic nerve. Although hydrocephalus is occasionally reported, only one patient has been observed to have papilledema ( 8). That patient had visual acuity of 6/ 6 OD and 6/ 9 OS, but no other details of the ophthalmologic examination were provided. It is unclear whether other patients with hydrocephalus had ophthalmologic examinations ( 7,15). Unilateral and bilateral optic atrophy has been reported, but the etiology is unclear ( 1,9). Kawamura et al. ( 3) found " symmetric fluid collections around the optic nerves in the orbits" on MR images of a 32- year- old man with Hadju- Cheney syndrome. No hydrocephalus was present, and the appearance of the optic nerve heads was not reported. Our patient had acro- osteolysis, pseudoclubbing, short stature, generalized osteoporosis, typical facies, and premature loss of teeth, thus fulfilling the diagnostic criteria for the Hadju- Cheney syndrome. He also had progressive hyperopia, right optic nerve head swelling, bilateral choroidal folds, and impressive enlargement of both intraorbital optic nerve sheaths. The optic nerves themselves and the CSF signal within the sheath appeared normal. Enlargement of the optic nerve- sheath complex has been reported in association with a variety of conditions ( 18,19). High- resolution computed tomographic scan or MR imaging can usually distinguish whether there is optic nerve enlargement, distention of the sheath, or thickening of the sheath. Isolated optic nerve enlargement is most often seen as a result of infiltration ( glioma, metastasis, or sarcoidosis) or inflammation ( optic neuritis) ( 18,19). Isolated optic nerve sheath thickening may result from meningioma or perioptic neuritis ( 20). Distension of the subarachnoid space is well recognized as accompanying optic nerve glioma ( arachnoidal glioma-tosis) in patients with neurofibromatosis type 1 ( 21- 24). Rarely, cystic enlargement of the nerve sheath has been reported associated with nerve sheath meningioma ( 25), tumors at the orbital apex ( 26), and trauma ( 27). Dilation of the nerve sheath and expansion of the sub- J Neum- Ophthalnwl, Vol. 18, No. I, 1998 HADJU- CHENEY SYNDROME 63 FIG. 4. Optic nerve heads at presentation. A: The right optic nerve head was mildly swollen. B: The left optic nerve head was normal. Radial chorioretinal folds were present in both posterior poles. arachnoid space with normal optic nerve appearance is usually a result of increased intracranial pressure ( 18,19,28- 31). Although our patient had a normal opening pressure, we can not absolutely rule out pseudotumor cerebri, because pressure fluctuations can occur in this condition. However, our patient had no other symptoms or signs of increased intracranial pressure. Additionally, our patient had unilateral disc swelling and, although this can occur with pseudotumor cerebri, it is thought to do so because of poor communication of CSF pressure along the orbital optic nerve. Our patient had bilaterally markedly distended nerve sheaths, and it would seem that if elevated pressure caused the distension, then bilateral disc swelling should be present. A variety of terms have been used to describe nerve sheath enlargement associated with normal optic nerve appearance in the presence of normal intracranial pressure. These include optic nerve arachnoid cyst ( 25,32- 36), perioptic hygroma ( 36), optic nerve ascites ( 37), and meningocele ( 31). It may occur unilaterally ( 31,33,38, 39) or bilaterally ( 31,36). An association with optic nerve coloboma has been reported ( 32,36). Patients often have optic disc swelling ( 36,39), but atrophic ( 31,33,38), and initially normal ( 31,36), nerve head appearance has been reported. Gradually progressive optic neuropathy can result in visual loss ( 31- 33,38,39). Alternatively, choroidal folds and progressive hyperopia may lead to visual complaints ( 31). Dailey et al. ( 40) described seven patients who developed progressive hyperopia and choroidal folds; six of seven also had enlarged optic nerve sheaths. Presumably, some degree of pressure is exerted on the nerve and globe. Indeed, visual loss can be arrested ( 31,36) or reversed ( 31,39) by fenestrating the optic nerve sheath. Garrity et al. ( 31) have used the term meningocele to describe any saccular dilation of the optic nerve sheath. Therapeutically, it is important to differentiate between primary meningoceles: those without other abnormalities of the optic nerve or sheath and secondary meningoceles: those associated with tumor, infiltration, or inflammation. We feel that primary optic nerve meningoceles can be followed if no visual loss is present, but optic FIG. 5. Computed tomographic scan at presentation. Axial view showing enlargement of both optic nerve sheaths; note the flattening of the posterior aspect of each globe. J Neuro- Ophthalmol, Vol. 18, No. 1, 1998 64 K. C. GOLNIK AND R. 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