Infantile Myofibroma of the Carotid Space Presenting as Horner Syndrome

Letters to the Editor Infantile Myofibroma of the Carotid Space Presenting as Horner Syndrome W e were very interested in the article on Horner syndrome by Sadaka et al (1), and wanted to add our experience with a 5-month-old girl with myofibroma of the carotid space. The patient was born by uncomplicated vaginal delivery without shoulder dystocia. Soon after she was born, a slight discrepancy in pupil size was detected by her primary care physician. At 2 months of age, she was seen by an ophthalmologist who noted a smaller left pupil along with mild left ptosis. She was referred to our center for further evaluation. On examination, the patient met her developmental milestones. The right pupil was 1 mm larger than the left, the anisocoria was greater in the dark with dilation lag of the left pupil. Results of topical cocaine eyedrop testing were consistent with left Horner syndrome. Urine levels of vanillymandelic acid and homovanillic acid were normal. MRI of head, neck and upper chest showed an ill-defined soft tissue mass in the left carotid space (Fig. 1). Given the age of the patient, imaging findings were most consistent with neuroblastoma and, less likely, rhabdomyosarcoma. The patient underwent surgical biopsy of the mass. Histopathology revealed biphasic plexiform paucicellular regions and spindle cell and vascular regions. Immunohistochemical stains disclosed the myofibromatous nature of the tumor cells, with by positive muscle markers (smooth muscle actin and muscle specific actin) and vimentin and negative neural markers (CD56, GFAP, and S100). These findings were diagnostic for myofibroma. A systemic workup included an echocardiogram that was normal. Full-body MRI showed an area of signal abnormality in the subcutaneous tissue of the right thigh measuring 0.7 · 0.6 cm consistent with a second myofibroma. No visceral involvement was detected. Given the benign natural history of myofibroma, and expected morbidity of surgical excision, the patient was observed and remained stable over 1.5 years of follow-up. Infantile myofibromatosis (IM) is a disorder characterized by the proliferation of fibroblasts, myofibroblasts, or both. This tumor is listed under the benign category of fibroblastic-myofibroblastic lesions according to WHO classification of soft tissue tumors (2). Myofibromatosis affects infants and young children almost exclusively, with approximately 90% detected before 2 years of age, more than half of which present at birth (3-6). Occurrence in adults is rare (6). The disease can present as a solitary lesion (myofibroma) or in a multicentric form (myofibromatosis). Infantile myofibromatosis usually involves the head and neck region but also may appear on the trunk (2- 7), skin, muscle, subcutaneous tissue, bone, and viscera (6,7). Letters to the Editor: J Neuro-Ophthalmol 2017; 37: 458-465 FIG. 1. Axial T1 (A) and fat-suppressed T2 (B) MRI reveals an ill-defined soft tissue mass in the left carotid space (C). The mass (arrow) shows enhancement on postcontrast axial T1 scan with fat suppression. 459 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. Letters to the Editor Myofibroma as a cause of Horner syndrome has been reported once previously, in a neonate with a left apical lung lesion and atrophy of the muscles of the ipsilateral arm (8). The treatment and prognosis of this disease is highly dependent on the extent of organ involvement, particularly of the viscera. Outcomes are generally excellent for patients who have solitary or multicentric disease confined to soft tissue and bone without visceral involvement and treatment primarily consists of observation (6,9,10). Because of the high mortality associated with multicentric myofibromatosis with visceral involvement, various medical treatments have been used including corticosteroids, interferon alpha, radiation and chemotherapy with a favorable outcome in some patients (11). Seyed Ali Nabavizadeh, MD Robert A. Zimmerman, MD Department of Radiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Peter Mattei, MD Department of General, Thoracic and Fetal Surgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Grant T. Liu, MD Neuro-ophthalmology Service, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Type I Dural Arteriovenous Fistula Mimicking Dural Venous Thrombosis- Related Intracranial Hypertension W e read with interest the recent editorial by Davies and Hopkins (1) on "Neuro-endovascular intervention: Evolving at the intersection of Neurosurgery and Neuro-ophthalmology." We share our experience of a patient in which neurointervention helped in the management of intracranial hypertension (ICH) caused by a Type I dural arteriovenous fistula (DAVF) that is otherwise considered benign and only rarely associated with ICH. A 30-year-old man with a body mass index of 54.52 kg/m2 experienced visual blurring and new-onset headache. He also reported tinnitus in his right ear. Visual acuity was 20/50, right eye and 20/70, left eye. The pupil examination was normal, and extraocular movements were full. He had bilateral hemorrhagic papilledema (Frisen Grade 5) with exudates extending into the macula (Fig. 1). Blood 460 The authors report no conflicts of interest. REFERENCES 1. Sadaka A, Schockman S, Golnik K. Evaluation of Horner Syndrome in the MRI Era. J Neuroophthalmol. 2017;37: 268-272. 2. Fletcher CDM, Unni KK, Mertens F. Pathology and Genetics of Tumours of Soft Tissue and Bone. Geneva, Switzerland: World Health Organization, 2002. 3. Beck JC, Devaney KO, Weatherly RA, Koopman CF Jr, Lesperance MM. Pediatric myofibromatosis of the head and neck. Arch Otolaryngol Head Neck Surg. 1999;125:39-44. 4. Gopal M, Chahal G, Al-Rafai Z, Eradi B, Ninan G, Nour S. Infantile myofibromatosis. Pediatr Surg Int. 2008;24:287-291. 5. Loundon N, Dedieuleveult T, Ayache D, Roger G, Josset P, Garabedian EN. Head and neck infantile myofibromatosisa report of three cases. Int J Pediatr Otorhinolaryngol. 1999;15:181-186. 6. Chung EB, Enzinger FM. Infantile myofibromatosis. Cancer. 1981;48:1807-1818. 7. Wiswell TE, Davis J, Cunningham BE, Solenberger R, Thomas PJ. Infantile myofibromatosis: the most common fibrous tumor of infancy. J Pediatr Surg. 1988;23:315-318. 8. Tierney TS, Tierney BJ, Rosenberg AE, Krishnamoorthy KS, Butler WE. Infantile myofibromatosis: a nontraumatic cause of neonatal brachial plexus palsy. Pediatr Neurol. 2008;39:276-278. 9. Wiswell TE, Davis J, Cunningham BE, Solenberger R, Thomas PJ. Infantile myofibromatosis: the most common fibrous tumor of infancy. J Pediatr Surg. 1988;23:314-318. 10. Coffin CM, Dehner LP, O'Shea PA. Fibroblasticmyofibroblastictumors: fibromatosis: juvenile fibromatoses: infantile myofibromatosis. In: Mitchell CW, ed. Pediatric Soft Tissue Tumors: A Clinical, Pathological, and Therapeutic Approach. Baltimore, MD: Williams & Wilkins, 1997. 11. Azzam R, Abbound M, Muwakkit S, Khoury N, Saab R. Firstline therapy of generalized infantile myofibromatosis with lowdose vinblastine and methotrexate. Pediatr Blood Cancer. 2009;52:308. pressure in the clinic was 158/70. The patient was immediately sent to the emergency department for further workup. Brain computed tomography was unremarkable. Opening pressure on lumbar puncture was 36 cm H2O, and cerebrospinal fluid composition was normal. Magnetic resonance imaging and magnetic resonance venography (MRV) of the brain were concerning for venous sinus thrombosis of the right sigmoid sinus and proximal internal jugular vein. However, a second review of the time-resolved angiography with interleaved stochastic trajectories (TWIST) sequence indicated early opacification of the right sigmoid sinus and internal jugular vein indicating an underlying DAVF (Fig. 2). A nonocclusive thrombus extended from the right transverse/sigmoid sinus junction to the right internal jugular vein. Cerebral angiography revealed a Type I DAVF involving the right sigmoid and transverse sinuses with antegrade flow and without alteration of cortical venous drainage. This study also confirmed the small, nonocclusive nature of the venous thrombus found on the MRV. Venous Letters to the Editor: J Neuro-Ophthalmol 2017; 37: 458-465 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited.