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|Year : 2017 | Volume
| Issue : 2 | Page : 428-429
Multiple mirror image cervical neurofibromas in neurofibromatosis type 1
Saraj K Singh1, Dipankar S Mankotia1, Sachin A Borkar1, Uditi D Gupta2
1 Department of Neurosurgery and Gamma Knife, All India Institute of Medical Sciences, New Delhi, India
2 Department of Physiology, All India Institute of Medical Sciences, New Delhi, India
|Date of Web Publication||10-Mar-2017|
Dr. Sachin A Borkar
Department of Neurosurgery and Gamma Knife, Room No-717, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi - 110 029
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Singh SK, Mankotia DS, Borkar SA, Gupta UD. Multiple mirror image cervical neurofibromas in neurofibromatosis type 1. Neurol India 2017;65:428-9
An autosomal dominant disorder, neurofibromatosis-1 (NF1) has different forms of presentation in adolescents. Here, the author is reporting a case of a 15-year-old male patient with NF-1 having multiple subcutaneous swellings (neurofibromas) all over the body of various sizes, involving the neck, chest, abdomen, and trunk [Figure 1]a,[Figure 1]b,[Figure 1]c. The patient presented to the outpatient department with a tingling sensation over the right upper limb middle finger gradually increasing in intensity since the past 15 days. Magnetic resonance imaging (MRI) of the cervical spine revealed multiple bilateral neurofibromas extending from C3 to D1 in a mirror image manner [Figure 1]d and [Figure 1]e. Multiple cervical root involvement has been reported but bilateral involvement with typical mirror imaging is very rare.
|Figure 1: (a) Contrast MRI coronal section of the cervical region with multiple bilateral symmetrical neurofibromas (mirror image) from C3 to D1 level. (b) MRI sagittal section of the cervical region with multiple neurofibromas extending from C3 to D1 level. (c) Multiple subcutaneous swellings over the chest and arm. (d) Multiple subcutaneous swellings over the back region. (e) Multiple subcutaneous swellings over the neck region|
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NF-1 has a conglomeration of multiple but specific clinical features including hyperpigmented spots, plexiform neurofibromas, Lisch nodules, café au-lait spots, and a short stature. Neurofibromas can develop in both the dorsal nerve roots and the peripheral nerves. Spinal neurofibromas can be identified in two different phenotypes of NF1 patients: (1) Classical NF1 with only one or few spinal tumors; and, (2) multiple bilateral spinal tumors. The latter has been classified as a subgroup of NF1, the spinal neurofibromatosis. Spinal tumors cause a wide clinical spectrum of NF1; however, only 2% of patients experience symptoms. The frequency of neurological manifestations increases with age. Although the patient was managed conservatively with medications on follow up in the outpatient department, if needed, these type of patients can be operated upon by a posterolateral approach without destabilizing the upper cervical segments.
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| » References|| |
Bartolomei JC, Crockard HA. Bilateral posterolateral approach to mirror-image C-2 neurofibromas. Report of four cases. J Neurosurg 2001;94(2 Suppl):292-8.
National Institutes of Health consensus Development Conference Neurofibromatosis: Conference statement. Arch Neurol 1988;45:575-8.
Upadhyaya M, Spurlock G, Kluwe L, Chuzhanova N, Bennett E, Thomas N, et al
. The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. Neurogenetics 2009;10:251-63.
Thakkar SD, Feigen U, Mautner VF. Spinal tumours in neurofibromatosis type 1: An MRI study of frequency, multiplicity and variety. Neuroradiology 1999;41:625-9.
Messiaen L, Callens T, Babovic-Vuksanovic WJB, et al
. Genotype-phenotype correlations in spinal NF. (Abstract 985) Presented at the annual meeting of the American Society of Human Genetics. San Diego, California, 2007. http://www.ashg. org/genetics/ashg07s/index.shtml
. [Last accessed on 2007 Oct 25].