Masahiro Nonaka1, Katsuya Ueno2, Haruna Isozaki2, Takamasa Kamei2, Junichi Takeda2, Akio Asai2. 1. Department of Neurosurgery, Kansai Medical University, 2-5-1 Shinmachi, Hirakata City, Osaka, 573-1010, Japan. nonakamasa65@gmail.com. 2. Department of Neurosurgery, Kansai Medical University, 2-5-1 Shinmachi, Hirakata City, Osaka, 573-1010, Japan.
Abstract
PURPOSE: Lipoma of the filum terminale (FL) is an abnormality in which fat is deposited in the filum terminale. This lipoma is often detected by skin abnormalities in the lumbosacral area such as a sacrococcygeal dimple. Some cases may develop tethered cord and become symptomatic. However, the genetic basis of FL is still unclear. METHODS: This study aimed to determine whether there was a family history of FL or other forms of spina bifida among 54 families of 56 patients with FL and to examine whether there is a familial predisposition in FL. In addition, sex, age at diagnosis, presence of symptoms, presence of sacrococcygeal dimple, and the level of conus medullaris between familial and spontaneous cases were evaluated. RESULTS: Of the 54 families of FL patients, there were 48 siblings. Among the 48 siblings, 2 had "occult" FL. The frequency of FL among siblings was estimated to be 4.2% (2/48), which was significantly higher than the sum of previously reported cases of spontaneous FL (0.91%; p = 0.017). However, there was no significant difference in sex, age at diagnosis, presence of symptoms, presence of sacrococcygeal dimple, diameter of filum terminale, or level of conus medullaris between familial and spontaneous cases. CONCLUSION: To our knowledge, this is the first report on familial FL and examination of the frequency of FL among siblings. The high probability of FL among siblings of FL patients suggests that genetic factors may play a role in FL development.
PURPOSE:Lipoma of the filum terminale (FL) is an abnormality in which fat is deposited in the filum terminale. This lipoma is often detected by skin abnormalities in the lumbosacral area such as a sacrococcygeal dimple. Some cases may develop tethered cord and become symptomatic. However, the genetic basis of FL is still unclear. METHODS: This study aimed to determine whether there was a family history of FL or other forms of spina bifida among 54 families of 56 patients with FL and to examine whether there is a familial predisposition in FL. In addition, sex, age at diagnosis, presence of symptoms, presence of sacrococcygeal dimple, and the level of conus medullaris between familial and spontaneous cases were evaluated. RESULTS: Of the 54 families of FLpatients, there were 48 siblings. Among the 48 siblings, 2 had "occult" FL. The frequency of FL among siblings was estimated to be 4.2% (2/48), which was significantly higher than the sum of previously reported cases of spontaneous FL (0.91%; p = 0.017). However, there was no significant difference in sex, age at diagnosis, presence of symptoms, presence of sacrococcygeal dimple, diameter of filum terminale, or level of conus medullaris between familial and spontaneous cases. CONCLUSION: To our knowledge, this is the first report on familial FL and examination of the frequency of FL among siblings. The high probability of FL among siblings of FLpatients suggests that genetic factors may play a role in FL development.
Entities:
Keywords:
Familial tendency; Filar lipoma; Lipoma of the filum terminale; Tethered cord syndrome
Authors: Joshua J Chern; Baran Aksut; Jennifer L Kirkman; Mohammadali M Shoja; R Shane Tubbs; Stuart A Royal; John C Wellons; Curtis J Rozzelle Journal: J Neurosurg Pediatr Date: 2012-06-29 Impact factor: 2.375
Authors: Ma'moon H Al-Omari; Haytham M Eloqayli; Hana' M Qudseih; Mohammad K Al-Shinag Journal: J Med Imaging Radiat Oncol Date: 2011-06 Impact factor: 1.735
Authors: C Crétolle; A Pelet; D Sanlaville; M Zérah; J Amiel; F Jaubert; Y Révillon; L Baala; A Munnich; C Nihoul-Fékété; S Lyonnet Journal: Hum Mutat Date: 2008-07 Impact factor: 4.878
Authors: Michael J Cools; Wajd N Al-Holou; William R Stetler; Thomas J Wilson; Karin M Muraszko; Mohannad Ibrahim; Frank La Marca; Hugh J L Garton; Cormac O Maher Journal: J Neurosurg Pediatr Date: 2014-03-14 Impact factor: 2.375