Encephalocraniocutaneous lipomatosis: A review of its clinical pathology and neurosurgical indications - Case report

Journal of Neurosurgery: Pediatrics

Volumn 8, Issue 3, 2011, Pages 316-320

  Ayer, Robert E ^a   Zouros, Alexander ^a  

^a LOMA LINDA UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Encephalocraniocutaneous lipomatosis; Hydrocephalus; Scoliosis; Spine; Tethered cord syndrome

Indexed keywords

ARTICLE; BENIGN TUMOR; BRACE; BRAIN STEM TUMOR; BRAIN TUMOR; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CRANIECTOMY; DISEASE COURSE; ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; HUMAN; HYDROCEPHALUS; INFANT; LAMINECTOMY; LIPOMATOSIS; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHAKOMATOSIS; PREOPERATIVE EVALUATION; PRIORITY JOURNAL; SCOLIOSIS; SPINAL CORD COMPRESSION; SPINAL CORD TUMOR; SPINE RADIOGRAPHY; TETHERED CORD SYNDROME; TREATMENT OUTCOME;

EYE DISEASES; HUMANS; HYDROCEPHALUS; INFANT; LIPOMATOSIS; MALE; NEURAL TUBE DEFECTS; NEUROCUTANEOUS SYNDROMES; NEUROSURGICAL PROCEDURES; SCOLIOSIS;

EID: 80052746097     PISSN: 19330707     EISSN: 19330715     Source Type: Journal    
DOI: 10.3171/2011.6.PEDS11138     Document Type: Article

References (21)

1. Alfonso I, Lopez PF, Cullen RF Jr, Martin-Jimenez R, Bejar RL: Spinal cord involvement in encephalocraniocutaneous lipomatosis. Pediatr Neurol 2:380-384, 1986 (Pubitemid 17029901)
2. Almer Z, Vishnevskia-Dai V, Zadok D: Encephalocraniocutaneous lipomatosis: case report and review of the literature. Cornea 22:389-390, 2003 (Pubitemid 36578543)
3. Brockmeyer D, Gollogly S, Smith JT: Scoliosis associated with Chiari 1 malformations: the effect of suboccipital decompression on scoliosis curve progression: a preliminary study. Spine (Phila Pa 1976) 28:2505-2509, 2003
4. Cardoso M, Keating RF: Neurosurgical management of spinal dysraphism and neurogenic scoliosis. Spine (Phila Pa 1976) 34:1775-1782, 2009
5. Deda G, Caksen H, Yavuzer G, Arasil T: Encephalocraniocutaneous lipomatosis associated with iris coloboma, chorioretinitis and spinal cord involvement: a case report. Brain Dev 23:355-358, 2001 (Pubitemid 32739223)
6. Fishman MA: Encephalocraniocutaneous lipomatosis. J Child Neurol 2:186-193, 1987
7. Fitoz S, Atasoy C, Erden I, Akyar S: Intracranial lipoma with extracranial extension through foramen ovale in a patient with encephalocraniocutaneous lipomatosis syndrome. Neuroradiology 44:175-178, 2002 (Pubitemid 36075907)
8. Gosalakkal JA: Sleep-disordered breathing in Chiari malformation type 1. Pediatr Neurol 39:207-208, 2008
9. Haberland C, Perou M: Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol 22:144-155, 1970
10. Hunter AG: Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes? Am J Med Genet A 140:709-726, 2006
11. Lasierra R, Valencia I, Carapeto FJ, Ventura P, Samper MP, Rodríguez G, et al: Encephalocraniocutaneous lipomatosis: neurologic manifestations. J Child Neurol 18:725-729, 2003 (Pubitemid 37428073)
12. McLone DG, Herman JM, Gabrieli AP, Dias L: Tethered cord as a cause of scoliosis in children with a myelomeningocele. Pediatr Neurosurg 16:8-13, 1990-1991
13. McMaster MJ: Occult intraspinal anomalies and congenital scoliosis. J Bone Joint Surg Am 66:588-601, 1984
14. Moog U: Encephalocraniocutaneous lipomatosis. J Med Genet 46:721-729, 2009
15. Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB: Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A 143A:2963-2972, 2007 (Pubitemid 350274811)
16. Moog U, Roelens F, Mortier GR, Sijstermans H, Kelly M, Cox GF, et al: Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: harboring clues to pathogenesis? Am J Med Genet A 143A:2973-2980, 2007 (Pubitemid 350274812)
17. Muhonen MG, Menezes AH, Sawin PD, Weinstein SL: Scoliosis in pediatric Chiari malformations without myelodysplasia. J Neurosurg 77:69-77, 1992
18. Parazzini C, Triulzi F, Russo G, Mastrangelo M, Scotti G: Encephalocraniocutaneous lipomatosis: complete neuroradiologic evaluation and follow-up of two cases. AJNR Am J Neuroradiol 20:173-176, 1999 (Pubitemid 30417692)
19. Sengupta DK, Dorgan J, Findlay GF: Can hindbrain decompression for syringomyelia lead to regression of scoliosis? Eur Spine J 9:198-201, 2000
20. Torrelo A, Boente MdelC, Nieto O, Asial R, Colmenero I, Winik B, et al: Nevus psiloliparus and aplasia cutis: a further possible example of didymosis. Pediatr Dermatol 22:206-209, 2005 (Pubitemid 40741253)
21. Tubbs RS, Doyle S, Conklin M, Oakes WJ: Scoliosis in a child with Chiari I malformation and the absence of syringomyelia: case report and a review of the literature. Childs Nerv Syst 22:1351-1354, 2006 (Pubitemid 44446053)