MyPACS.net: Radiology Teaching Files > Case 5353232

never visited 13 YO FEMALE WITH CAFE AU LAIT SPOTS
Contributed by: Faculty and residents Children's Hospital.
Patient: 13 year old female
History:

13 yo female with cafe au lait spots.  MR performed for screening.

Images:[small]larger

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Findings:

Heterogeneous, lobulated T2 hyperintense lesions that demonstrate small target-like appearances involving the right carotid sheath.  There is encasement of the right carotid artery and jugular vein without apparent erosion.

Multiple scattered high T2 signal abnormalities in the brain stem and cerebellum.

Diagnosis:

Plexiform neurofibroma of NF1

Unidentified Bright Objects (UBOs)

Discussion:

Plexiform Neurofibroma

Serpentine “bag of worms” appearance of tortuous tangles, fusiform enlargement of peripheral nerves plus branches, extending into the adjacent muscle, fat, and subcutaneous tissue.  
Involve the scalp, neck, mediastinum, cranial nerve V, and orbit

May become very large, pendulous and disfiguring – elephantiasis neuromatosa
Malignant transformation

Pathognomonic of neurofibromatosis type I

Neurofibromatosis Type I  (Von Recklinghausen Disease)
Dysplasia of mesodermal and neuroectodermal tissue with potential for diffuse systemic involvement
Autosomal dominant – Chromosome 17
50% spontaneous mutation, variable expressivity

Most common of the phakomatoses: Incidence: 1-2000-4000,  M:F  1:1
Advanced paternal age (two fold risk increase)

Diagnostic criteria: (2 of the following):

  1. >6 café au lait spots >5mm in diameter
  2. 2 or more subcutaneous neurofibromas/ one plexiform neurofibroma
  3. Axillary/inguinal freckling
  4. Optic nerve glioma - pylocytic astrocytomas (15-40%)
  5. 2 or more Lisch nodules (pigmented iris hamartomas)
  6. Skeletal lesions (sphenoid dysplasia, thinning of long bones) pseudo arthrosis
  7. First-degree relative with peripheral neurofibroma

Classic triad:
1.  Cutaneous lesions
2.  Skeletal deformity
3.  Mental deficiency

UBO  (Unidentified bright object) – T2WI high signal areas in peduncles or deep gray matter of the cerebellum, brain stem (pons), basal ganglia (globus pallidus)

  1. Myelin vacuolization
  2. Hamartoma
  3. focal gliosis
  4. wallerian degeneration
  5. dysplastic white matter
Usually decrease with age
May increase in size in adulthood – Astrocytomas

Associated with:

  1. Spinal dural ectasia
  2. Lateral thoracic meningocele
  3. posterior vertebral body scalloping
  4. aqueductal stenosis
  5. pachygyria
  6. polymicrogyria
  7. syringomyelia
 

References:

Dahnert, 5th edition
Neuroradiology requisites

Comments:
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Additional Details:

Case Number: 5353232Last Updated: 07-31-2006
Anatomy: Cranium and Contents   Pathology: Congenital
Modality: MRExam Date: Access Level: Readable by all users

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