Schimmelpenning syndrome is a rare neurocutaneous
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1 J Neurosurg Pediatrics 11: , 2013 AANS, 2013 Spinal arteriovenous malformation associated with Schimmelpenning syndrome Case report Kaith K. Almefty, M.D., 1 Andrew F. Ducruet, M.D., 1 R. Webster Crowley, M.D., 1 Ruth Bristol, M.D., 2 Sean D. Lavine, M.D., 3 and Felipe C. Albuquerque, M.D. 1 1 Department of Neurological Surgery, Barrow Neurological Institute, St. Joseph s Hospital and Medical Center, Phoenix; 2 Department of Neurological Surgery, Barrow Neurological Institute, Phoenix Children s Hospital, Phoenix, Arizona; and 3 Department of Neurological Surgery, Columbia University, New York, New York The authors report the presentation and management of a 13-year-old girl with Schimmelpenning syndrome, a rare neurocutaneous syndrome; this patient suffered hemorrhage of a spinal arteriovenous malformation. This is the first case of a spinal arteriovenous malformation reported in association with Schimmelpenning syndrome. Neurosurgeons should be aware of this rare phacomatosis as well as of the various neurological disorders associated with this diagnosis. The threshold for imaging the neuraxis in these patients should be low. ( Key Words pediatric spine spinal arteriovenous malformation Schmimmelpenning syndrome vascular disorders Schimmelpenning syndrome is a rare neurocutaneous disease characterized by an obligatory craniofacial nevus sebaceous in association with seizure, developmental delay, and ocular or skeletal disorders. 3,4 Extracutaneous features of this syndrome include cardiovascular anomalies, vascular malformations, urological defects, vitamin D resistant rickets, benign tumors, numerous malignancies, and intraoral lesions. 3 5 Cerebral abnormalities are also reported in a large percentage of patients with Schimmelpenning syndrome. These patients typically exhibit hemimegalencephaly and become symptomatic with seizures. 9 We report the first case of a spinal AVM associated with Schimmelpenning syndrome. Case Report History. This 13-year-old girl with a history of Schimmelpenning syndrome presented to another facility with rapid onset of upper-extremity paresis and lower-extremity monoplegia. Imaging, including a cervical MRI study, revealed hemorrhage associated with a cervical AVM. Abbreviation used in this paper: AVM = arteriovenous malformation. The patient s medical history was notable for nevus sebaceous of the left ear, cheek, and anterior neck. The lesions involving her ear and neck had been resected. She had already undergone repair of coarctation of the aorta at the age of 2 months, resection of an epibulbar dermoid, and repair of cutis aplasia. She had also received a diagnosis of dysplastic left kidney; discrepancy in the length of her left leg compared with her right; and multiple osseous lesions of her left shoulder, femur, and pelvis that were radiographically consistent with enchondromas. An MRI study of the brain performed at birth had shown a left temporal arachnoid cyst and right hemimegalencephaly (Fig. 1), although she did not suffer from seizures or significant developmental delay, and other features of hemimegalencephaly such as cortical dysplasia and multiple layers of cortex are lacking. One month before the patient s acute presentation, she underwent surveillance MRI of the brain, which demonstrated stability of the arachnoid cyst and hemimegalencephaly. Abnormal flow voids in the region of the cervical spinal cord prompted dedicated MRI of the cervical spine. This study showed a large spinal AVM extending from the cervicomedullary junction to C-7 (Fig. 2). The This article contains some figures that are displayed in color on line but in black-and-white in the print edition. 600
2 Spinal AVM with Schimmelpenning syndrome Fig. 2. Cervical T2-weighted MR images obtained before (left) and after (right) the AVM hemorrhage. Fig. 1. Axial T2-weighted MR image of the brain demonstrating hemi megalencephaly. AVM consisted of intramedullary, intradural extramedullary, and osseous (C-5 body) components. She was scheduled for neurosurgical evaluation when she suffered the hemorrhagic event. Spinal angiography performed at another institution showed a flow-related aneurysm off a branch of the right thyrocervical trunk. The aneurysm, which was thought to be the site of hemorrhage, was successfully embo lized using coils (Fig. 3). The patient was discharged to a rehabilitation facility, where she partially recovered her strength. She was referred to our facility 4 months after the hemorrhage for further evaluation of the AVM. Examination. On our initial evaluation the patient had antigravity strength in her proximal upper extremities bilaterally and functional strength in her hands. She was nonambulatory, with minimal movement in her bilateral lower extremities. She was scheduled for staged embolization followed by resection of the lesion, with the primary objective of spinal cord decompression. Operation. At our institution, the embolization was performed using Onyx (ev3 Inc.) and N-butyl cyanoacrylate (Cordis Neurovascular) in 2 stages via right femoral artery and combined right femoral and left brachial artery approaches, due to an absence of the origin of the left subclavian from the arch (Fig. 4A and B). Resection proceeded through a C-1 laminectomy and C2 6 laminoplasty and standard microscopic dissection and resection (Fig. 5). Postoperative angiography showed a small amount of intramedullary residual AVM and an osseous portion involving the C-5 vertebral body (Fig. 4C and D). Postoperative Course. The patient tolerated all interventions well. After the resection, she suffered a transient neurological decline. However, by the 3rd postoperative day her neurological function recovered to her preoperative baseline. During this period she was monitored in the ICU and her blood pressure was strictly controlled. Subsequently, she was discharged to a rehabilitation facility. Discussion Schimmelpenning syndrome is a rare neurocutaneous disorder defined by a craniofacial nevus sebaceous associated with seizure, developmental delay, and ocular or skeletal disorder. 3,4 In 1957 Schimmelpenning 12 described a patient with nevus sebaceous, seizures, and ocular abnormalities. In 1962, independent of this first report, Feuerstein and Mims 2 reported 2 patients with nevus sebaceous, seizures, and mental retardation. Solomon et al. 14 later coined the term epidermal nevus syndrome after reviewing 60 cases of patients with epidermal nevi and accompanying extracutaneous abnormalities. Subsequently the literature has been muddied by the use of numerous names for the syndrome, including epidermal nevus syndrome, linear sebaceous syndrome, epidermal nevus syndrome of Solomon, organoid nevus phacomatosis, Schimmelpenning- Feuerstein-Mims syndrome, Jadassohn nevus phacomatosis, organoid nevus syndrome, nevus sebaceous syndrome, Feuerstein-Mims syndrome, linear nevus sebaceous syndrome, and Solomon syndrome. Recently, an attempt has been made to clarify the nomenclature by emphasizing the name Schimmelpenning syndrome as a single syndrome within a group of epidermal nevus syndromes. 4 Various neurological manifestations of Schimmelpenning syndrome have been reported. 1,9 With rates 601
3 K. K. Almefty et al. Fig. 3. Right thyrocervical branch injection angiography study obtained at the time of initial presentation. The associated aneurysm was noted to be the site of hemorrhage (left) and was embolized using coils (right). ranging from 60% to 78%, seizures and developmental delay are the most common symptoms.3 Hemimegalencephaly and unilateral ventricular dilation are the most common radiographic findings.9,11 Our patient exhibited hemimegalencephaly but did not have seizures or significant developmental delay. Other CNS anomalies include porencephaly, focal cortical dysgenesis, pachygyria, heterotopic gray matter, optic glioma, and brain AVMs.6,11 Two cases of brain AVMs have previously been reported.6,10 It is not surprising that other regions of the CNS could be involved. In fact, a thoracic intraspinal hemorrhage causing paraplegia has previously been reported; however, angiography studies obtained in that patient did not identify a causative lesion.7 Greene et al.3 carefully reviewed the literature and presented their own series of patients with Schimmelpen- Fig. 4. Pretreatment posteroanterior (A) and lateral (B) right vertebral artery injection angiograms showing the extensive cervical AVM. Posttreatment posteroanterior (C) and lateral (D) right vertebral artery injection showing a small residual lesion. 602
4 Spinal AVM with Schimmelpenning syndrome anomalies. Indeed, our patient had undergone repair of her coarctation of the aorta at 2 months of age. The best-known neurocutaneous syndrome involving spinal AVMs is Cobb syndrome or cutaneomeningospinal angiomatosis, which is defined as the presence of a cutaneous nevus and a spinal AVM in the same dermatome.8,13 Similarly, Sturge-Weber syndrome involves angiomas of the leptomeninges, skin, and face.15 Some authors have suggested an association between Schimmelpenning syndrome and Sturge-Weber because of the presence of cerebral vascular malformations, the cutaneous findings typically involving the face, and the lack of heritability in both syndromes. However, this association is unlikely because the characteristic facial capillary malformation in Sturge-Weber is absent in Schimmelpenning, and the cerebral vascular malformations are markedly different in both frequency and type.3 Schimmelpenning syndrome is a rare neurocutaneous syndrome with a propensity for both systemic and cerebral vascular anomalies. We report the first case of a patient with this syndrome who also had a concomitant large spinal AVM. Neurosurgeons should be aware of this rare phacomatosis and of the various neurological pathological entities associated with this diagnosis. A low threshold for imaging the neuraxis should be exercised in these patients. Disclosure The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper. Author contributions to the study and manuscript preparation include the following. Conception and design: Albuquerque, Al mefty, Ducruet, Crowley. Acquisition of data: Albuquerque, Al mefty, Bristol. Analysis and interpretation of data: Albuquerque, Al mefty, Crowley, Lavine. Drafting the article: Ducruet, Crowley. Critically revising the article: all authors. Reviewed submitted version of manuscript: all authors. Approved the final version of the manuscript on behalf of all authors: Albuquerque. Study supervision: Albuquerque. References Fig. 5. Intraoperative photographs demonstrating the AVM before (A), during (B), and at the conclusion (C) of resection. Used with permission from Barrow Neurological Institute. ning syndrome and associated vascular anomalies. These vascular anomalies, most frequently venous malformations and arterial malformations of the systemic vasculature, were present in 33% of their patients and in 13% of patients in the literature. Other malformations observed included coarctation of the aorta, aberrant dural sinuses, a cervical carotid artery malformation, and a leptomeningeal hemangioma. Based on the presence of these various lesions, Greene et al. concluded that patients with Schimmelpenning syndrome are at increased risk of vascular 1. Baker RS, Ross PA, Baumann RJ: Neurologic complications of the epidermal nevus syndrome. Arch Neurol 44: , Feuerstein RC, Mims LC: Linear nevus sebaceus with convulsions and mental retardation. Am J Dis Child 104: , Greene AK, Rogers GF, Mulliken JB: Schimmelpenning syndrome: an association with vascular anomalies. Cleft Palate Craniofac J 44: , Happle R: The group of epidermal nevus syndromes Part I. Well defined phenotypes. J Am Acad Dermatol 63:1 24, Herman TE, Siegel MJ: Hemimegalencephaly and linear nevus sebaceous syndrome. J Perinatol 21: , Kang WH, Koh YJ, Chun SI: Nevus sebaceus syndrome associated with intracranial arteriovenous malformation. Int J Dermatol 26: , Kotulska K, Jurkiewcz E, Jóźwiak S, Kuczyński D: Epidermal nevus syndrome and intraspinal hemorrhage. Brain Dev 28: , Maramattom BV, Cohen-Gadol AA, Wijdicks EF, Kallmes D: Segmental cutaneous hemangioma and spinal arteriovenous 603
5 K. K. Almefty et al. malformation (Cobb syndrome). Case report and historical perspective. J Neurosurg Spine 3: , Menascu S, Donner EJ: Linear nevus sebaceous syndrome: case reports and review of the literature. Pediatr Neurol 38: , Nuno K, Mihara M, Shimao S: Linear sebaceous nevus syndrome. Dermatologica 181: , Sato K, Kubota T, Kitai R: Linear sebaceous nevus syndrome (sebaceous nevus of Jadassohn) associated with abnormal neuronal migration and optic glioma: case report. Neurosurgery 35: , Schimmelpenning GW: [Clinical contribution to symptomatology of phacomatosis.] Fortschr Geb Rontgenstr Nuklearmed 87: , 1957 (Ger) 13. Schulz U, O Leary CP: Spinal AVM, epidermal nevus, and rhabdomyosarcoma: A rare neurocutaneous syndrome? Neurology 56: , Solomon LM, Fretzin DF, Dewald RL: The epidermal nevus syndrome. Arch Dermatol 97: , Tomycz N, Weaver MW, Goumnerova LC: The Phakomatoses, in Albright AL, Pollack IF, Adelson PD (eds): Principles and Practice of Pediatric Neurosurgery. New York: Thieme, 2008, pp Manuscript submitted September 5, Accepted January 31, Please include this information when citing this paper: published online March 8, 2013; DOI: / PEDS Address correspondence to: Felipe C. Albuquerque, M.D., c/o Neu roscience Publications, Barrow Neurological Institute, St. Jo seph s Hospital and Medical Center, 350 West Thomas Road, Phoe nix, Arizona neuropub@dignityhealth.org. 604
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