Severe Spinal Neurofibromatosis in a Child

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

“…By critically reviewing the published reports labelled as (familial/hereditary) spinal neurofibromatosis (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20), we realized that not all the reported cases presented with involvement of all the 38 spinal roots. In many individuals, the affected status of SNF was assigned to (familial or sporadic) patients with few or multiple neurofibromas involving multiple (but not all) segments of the spine (either unilaterally or bilaterally).…”

“…After these two reports (1,2), 17 further studies recorded 83 additional (both familiar sporadic) patients for a total of 98 patients labelled under the umbrella term of 'familial/hereditary spinal neurofibromatosis' or just 'spinal neurofibromatosis' (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). The condition has been regarded as a true NF1 variant or subtype, and either linkage to the NF1 locus (1,2) or mutations in the NF1 gene have been recorded in most reported cases (3, 5-11, 13, 16-20).…”

“…typical pigmentary manifestations, Lisch nodules and cutaneous and nodular neurofibromas) and other NF1-associated manifestations (e.g. scoliosis, long bone dysplasia, optic and non-optic pathway gliomas, plexiform neurofibromas (PNFs), pheochromocytoma and the typical T2 hyperintensities in the brain) (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). Besides the classical families with multiple spinal neurofibromas, several sporadic cases have been recorded and, more recently, the phenotypic spectrum has included a set of concordant twins with SNF (16) and individuals with SNF belonging to families with classical NF1 (20).…”

Surgical Correction of Subaxial Kyphosis in a Child With Type I Neurofibromatosis: Rare Clinical Case and Literature Review

“…В критических ситуациях (спасти-ческий тетрапарез) положительную динамику неврологического статуса может обеспечить и паллиативное вмешательство -декомпрессивная ламинэктомия с частичной резекци-ей опухоли [17].…”

Spinal Neurofibromatosis with Central Nervous System Involvement in a Set of Twin Girls and a Boy: Further Expansion of the Phenotype

“…After that study, 10 further families, 5 cases presenting within classical NF1 families, and 20 sporadic cases exhibiting variable phenotypes consisting of extensively and apparently symmetrically distributed, histologically proven, multiple neurofibromas of the spinal roots and peripheral nerves in association with café-au-lait spots, and occasionally skinfold freckling and Lisch nodules have been reported. [1][2][3][4][5][6][7][8][9][10][11][12] The condition has been regarded as an NF1related form (an NF1 subtype) 13 and (mild) mutations in the NF1 gene (e.g., missense or splicing) have been recorded in most reported cases. [1][2][3][4][5][6][7][8][9][10][11][12] Herein, we report on a set of monozygotic twin girls, 16 years of age, and on an additional sporadic boy, 14 years of age, who manifested peripheral neuropathy associated with multiple, extensive, bilateral (histologically proven) neurofibromas of the spinal roots at every level and of all the peripheral nerves of the four limbs and thoracic region, leaving no intact segment.…”