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previously visited 071002 TERMINAL DELETION OF THE CHROMOSOME 7Q36 WITH FIBROLIPOMA OF THE FILUM TERMINALE AND CAUDAL REGRESSION SYNDROME Random Case
Authored By: pedrad CSH, Radiologist, Chung Shan Medical University Hospital, Taiwan.
Patient: 11 year old female
History: History of hypothyroidism post treatment.
Images:[small]mediumlargeas-submittedimages only

Fig. 1: X-ray:Pelvis

Fig. 2: MRI_spine_sag

Fig. 3: MRI_spine_sag

Fig. 4: MRI_pelvis_axi
Images:[small]mediumlargeas-submittedimages only
Findings:

Pelvis X-ray:
1. Hypogenesis and deformity of sacrococcygeal spine with right
   side curvilineal deviation (red line in fig.01), in favor of
   caudal regression syndrome (mild form).

MRI of pelvis and spine:

1. Marked short T1 signal along thick filum terminale with slight
   downward displacement of conus medullaris to the level of
   L2/3, suggesting fibrolipoma of the filum terminale with
   tethered cord (fig.02).
2. Mild dilatation of central canal of spine along T10-L1,
   in favor of hydromyelia (fig.03).
3. Saddle-shaped thickening of the fundus of uterus with normal
   fundal external contour and with mild increased transverse
   diameter of uterine cavity, in favor of arcuate uterus (fig.04).

Impression:
1. Fibrolipoma of the filum terminale with tethered cord
   and hydromyelia.
2. Caudal regression syndrome with hypogenesis and deformity of
   sacrococcygeal spine.
3. Arcuate uterus.

Chromosome analysis: Terminal deletion of the chromosome 7q36 (not showed).

Diagnosis: Terminal deletion of the chromosome 7q36 with fibrolipoma of the filum terminale and caudal regression syndrome.
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Additional Details:

Case Number: 11161961Last Updated: 10-16-2007
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Anatomy: Spine and Peripheral Nervous System   Pathology: Congenital
Modality: Conventional Radiograph, MRAccess Level: Readable by all users
Keywords: chromosome, 7q36, deletion, fibrolipoma, filum terminale, tethered cord, hydromyelia, arcuate, uterusACR: 368.141
Case has been viewed 1349 times.

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