Neurofibromatosis

Slide #358: MRI C-T-spine, 6/10/96: C2-T1 Neurofibroma

CC: Progressive weakness.

Hx: This 41y/o RH-African American female presented with progressive weakness over the past 2 years (BLE worse than BUE; and Right side worse than left). She denied urinary or fecal incontinence/retention. She denied any alteration in sensation. Her walking has become unsteady due to weakness she feels and not to loss of coordination.

MEDS: Levoxyl 0.05mcg qAM.

PMH: 1) Diagnosed with Neurofibromatosis(NF) type I in 1974 by a local dermatologist. Biopsies of skin lesions in 1974 and 1978 were consistent with neurofibromas. 2)8/4/80 Urethro-vaginal septal neurofibroma excision for dyspareunia/bleeding. 3)Breast biopsy 1980's ("benign'). 4)Hypothyroidism. 5)Appendectomy 1986. 6) C-section 1984.

FHx: Father died of complications of DM, age 66. Mother, younger brother and sister are healthy. NO history of NF in family.

SHx: Single, Denies Tobacco/ETOH/illicit drug use. College graduate.

EXAM: Vitals were unremarkable.

MS: unremarkable.

CN: Presumably unremarkable, though no mention of CN Exam in Neurosurgery notes.

Motor: 4/5 at right triceps and "distal lower extremity. Otherwise 5/5 strength throughout.

Sensory: no deficits PP/VIB testing.

Coord: Unsteady HKS movement, bilaterally. FNF testing not mentioned.

Station: NO drift or Romberg sign.

Gait: "Unsteady."

Reflexes: 2+/2+ BUE. 3/3 patellae. 4/4 sustained clonus at ankles. Plantar responses were downgoing, bilaterally.

Gen Exam: Several cutaneous neurofibromas were noted, but locations not specified.

No mention of Lisch nodules or cafe au lait spots.

COURSE: GS, CBC, PT/PTT, UA were unremarkable. MRI C-T-spine with gadolinium on 6/10/96 revealed an enhancing multilevel nerve root mass lesion from C2 down to T1. The upper half of the mass is well enhanced and partially "dumbbell" in shape (transverse cuts) characteristic of spinal neurofibroma. The lower half of the mass does not enhance well and appears to occupy subarachnoid space. It may represent subarachnoid cyst combined with neurofibroma. The cord is displaced to the right posterolaterally. In addition there are multiple cutaneous nodules seen on the thorax. These findings are consistent with neurofibromata. She underwent cervical laminectomy and spinal tumor resection on 7/12/96 and had no perioperative complication. She was noted to have new paresthesias in the left thumb. Her gait and balance improved markedly following surgery. Pathologic evaluation of the tumor showed proliferation of wavy bundles of small cells amid a myxoid matrix. There was minimal nuclear pleomorphism. There were scattered small nerves and clusters of ganglio cells which appeared entrapped. These findings were felt consistent with neurofibroma.