Vanishing Act - Gorham-Stout Disease Leading to Dynamic Cerebrospinal Fluid Abnormalities

Letters to the Editor Vanishing Act: Gorham-Stout Disease Leading to Dynamic Cerebrospinal Fluid Abnormalities W e read with great interest the article by Stroh et al (1) describing neuro-ophthalmic involvement in a patient with Gorham-Stout disease. We present a patient with Gorham-Stout disease highlighting the potential dynamic cerebrospinal fluid (CSF) abnormalities that may occur in such patients. A 14-year-old girl with no significant medical history was evaluated by an otolaryngologist for progressive right-sided hearing loss. A right supraclavicular mass was detected and aspirated, but the pathology was nondiagnostic. Computed tomography (CT) of the temporal bones and neck revealed a large, multiloculated, hypodense cystic lesion in the right side of the neck, an ill-defined hypodense soft tissue mass with cortical erosion involving the right petrous temporal bone, and multifocal lytic expansile lesions with cortical dehiscence and osteolysis of the right mandible (Fig. 1). These findings were suggestive of a lymphatic malformation within the neck with associated osseous lymphangiomatosis in the spectrum of Gorham-Stout disease. At the age of 18 years, the patient developed bacterial meningitis, which was treated and subsequently recurred. A CT cisternogram confirmed a CSF leak through the right temporal bone. MRI of the skull base confirmed severe osteolysis of the right mandible. The CSF leak was not surgically repaired at that time and the patient was treated with zolendronic acid in an effort to prevent further bone resorption and an attempt to restore bone loss (2,3). MRI of the brain performed at the age of 19 years showed brainstem sagging, effacement of the suprasellar cistern, and low-lying cerebellar tonsils (Fig. 2). This combination of findings was consistent with intracranial hypotension. MRI of the brain performed at the age of 20 years showed partial remineralization of the right mandible. At the age of 20 years, the patient developed right otitis media. Because of concern that this might lead to another recurrence of meningitis, she was treated with ceftriaxone, cefdinir, and azithromycin. She then developed acute onset of severe headaches, neck pain, intermittent blurry vision, and binocular diplopia. Neuro-ophthalmic examination revealed visual acuity by 20/20 bilaterally, normal color vision and pupillary reactions, full extraocular movements but a 6 prism-diopter esotropia in right gaze and a 2 prism-diopter esophoria in left gaze. Ophthalmoscopy revealed bilateral optic disc edema (Fig. 3). MRI of the brain demonstrated decreased effacement of the preopontine cistern, decreased brainstem sagging and cerebellar tonsillar descent compared with her previous MRI (Fig. 4). Magnetic resonance venography showed narrowing of both transverse and sigmoid venous sinuses. On lumbar puncture, opening Letters to the Editor: J Neuro-Ophthalmol 2018; 38: 419-425 FIG. 1. A. Postcontrast axial CT of the neck demonstrates a multiloculated cystic lesion on the right (arrows) and an expansile lesion in the right mandible with cortical dehiscence (arrowhead). B. Coronal CT (bone algorithm) shows cortical erosion (arrow) involving the right temporal bone. FIG. 2. Sagittal T1 MRI reveals effacement of the suprasellar and prepontine cisterns and low-lying cerebellar tonsils (arrow). 419 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. Letters to the Editor FIG. 3. Bilateral papilledema is present. pressure was .56 cm H20 with 1,445 red blood cells/mL, 1 white blood cell/mL and normal protein and glucose levels and negative cultures. Despite the use of acetazolamide (500 mg twice a day), the patient's sixth nerve palsies and optic disc edema worsened. A lumbar drain improved her signs and symptoms, but once the lumbar drain was removed, her clinical examination worsened. Bilateral optic nerve sheath fenestrations were performed followed by placement of a ventriculoperitoneal shunt. One month later, her visual acuity was 20/20 in each eye, there was a 0.6 log unit right relative afferent pupillary defect, with a 2 prism-diopter esotropia in the primary position and resolving optic disc edema bilaterally. Bony involvement of the skull base in Gorham-Stout disease has been reported to lead to CSF leak and resulting CSF hypotension. Nazarian et al (4) reported a child with cranial lymphangiomatosis who developed recurrent meningitis and CSF otorrhea. Cushing et al (5) published a case of CSF leak due to Gorham-Stout disease involving the petrous apex in a 12-year-old boy. Hernández-Marqués et al (6) reported in- volvement of the temporal bone in a 2-year-old boy leading to CSF otorrhea and secondary meningitis. Morimoto et al (7) described an 11-year-old girl with Gorham-Stout disease involving the right petrous apex that presented with elevated intracranial pressure (60 cm H2O on lumbar puncture) and CSF leak. The authors proposed that increased lymph entering the CSF space led to elevated intracranial pressure. CSF leak and intracranial hypotension from Gorham-Stout disease also have been described with lesions in the thoracic spine (8). We believe that treatment with zolendronic acid in our patient led to reversal of bone loss and closure of the CSF leak and rebound intracranial hypertension. Our case expands the possible causes of dynamic CSF abnormalities which can occur in patients with Gorham-Stout disease. Jason H. Peragallo, MD Departments of Ophthalmology and Pediatrics, Emory University School of Medicine, Atlanta, Georgia Bruno P. Soares, MD Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland Supported in part by an unrestricted departmental grant (Department of Ophthalmology) from Research to Prevent Blindness, Inc, New York, and by NIH/NEI core grant P30-EY06360 (Department of Ophthalmology). This work was not industry supported. The authors report no conflicts of interest. REFERENCES FIG. 4. Sagittal T1 MRI shows improvement in the position of the brainstem with less effacement of the suprasellar and prepontine cisterns and near-normal position of the cerebellar tonsils. 420 1. Stroh IG, Ediriwickerema LS, Miller NR. Gorham-Stout disease presenting as acute unilateral proptosis. J Neuroophthalmol. 2017;37:xx-xx. 2. Kuriyama DK, McElligott SC, Glaser DW, Thompson KS. Treatment of Gorham-Stout disease with zoledronic acid and Letters to the Editor: J Neuro-Ophthalmol 2018; 38: 419-425 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. Letters to the Editor interferon-alpha: a case report and literature review. J Pediatr Hematol Oncol. 2010;32:579-584. 3. Cramer SL, Wei S, Merrow AC, Pressey JG. Gorham-Stout disease successfully treated with sirolimus and zoledronic acid therapy. J Pediatr Hematol Oncol. 2016;38:e129-e132. 4. Nazarian GK, Gebarski SS, Niparko JK. Cranial lymphangiomatosis causing CSF otorrhea and recurrent meningitis: CT features. J Comput Assist Tomogr. 1990;14:121-123. 5. Cushing SL, Ishak G, Perkins JA, Rubinstein JT. Gorham-Stout syndrome of the petrous apex causing chronic cerebrospinal fluid leak. Otol Neurotol. 2010;31:789-792. 6. Hernández-Marqués C, González AS, Ortega FC, Alvarez-Coca J, Cerda SS, Lechón FC, Cuadillero DA. Gorham-Stout disease and cerebrospinal fluid otorrhea. Pediatr Neurosurg. 2011;47:299-302. 7. Morimoto N, Ogiwara H, Miyazaki O, Kitamuara M, Nishina S, Nakazawa A, Maekawa T, Morota N. Gorham-Stout syndrome affecting the temporal bone with cerebrospinal fluid leakage. Int J Pediatr Otorhinolaryngol. 2013;77:1596-1600. 8. Molina EJS, Niederstadt T, Ruland V, Kayser G, Stummer W, Ewelt C, Rössler J. Cerebrospinal fluid leakage in Gorham-Stout disease due to dura mater involvement after progression of an osteolytic lesion in the thoracic spine. J Neurosurg Spine. 2014;21:956-960. A Case of Atypical Leber Hereditary Optic Neuropathy With Slow, Symmetrical Progression Over Three Years with each eye. Pupillary reactions, slit-lamp examination, intraocular pressures, and ophthalmoscopy were normal. One year later, she complained of progressive, painless vision loss in both eyes. Acuity was now 20/40 bilaterally, the patient identified 2 Ishihara color plates with each eye, kinetic perimetry demonstrated cecocentral scotomas bilaterally, and ophthalmoscopy revealed temporal pallor of both optic discs. Optical coherence tomography (OCT) showed significant thinning of the retinal nerve fiber layer (RNFL) in both eyes (Fig. 1A). Genetic testing showed an mtDNA nucleotide 11778 point mutation. Postcontrast orbital MRI was normal. Two years after the first visit, visual acuity was 20/70 bilaterally and the patient could still identify 2 Ishihara color plates with each eye. The optic discs remained pale temporarily, whereas OCT showed further RNFL thinning in both eyes. The average RNFL thickness had decreased from 54 to 49 mm in the right eye and from 56 to 46 mm in the left eye (Fig. 1B). T here have been a number of interesting letters to the Journal of Neuro-Ophthalmology dealing with Leber hereditary optic neuropathy (LHON) (1,2). We would like to add the case of a patient with LHON who experienced slow, symmetrical disease progression over 3 years. A 24-year-old Korean woman reported mildly decreased vision in both eyes over 1 year. Her medical, ocular, and neurological histories were unremarkable. She took no medications nor did she smoke or drink alcohol. Her father and sister were healthy and had no vision-related problems; however, her mother exhibited dyschromatopsia. Visual acuity in both eyes was 20/30, and the patient identified 3 Ishihara color plates FIG. 1. Optical coherence tomography shows progressive thinning of the RNFL from 1 (A) to 2 (B) years after initial presentation. RNFL, retinal nerve fiber layer. Letters to the Editor: J Neuro-Ophthalmol 2018; 38: 419-425 421 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited.