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Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
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Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

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Turner syndrome with spinal hemorrhage due to vascular malformation

Min Kyung Yu1, Mo Kyung Jung1, Ki Eun Kim1

  • 1Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Korea.

Annals of Pediatric Endocrinology & Metabolism
|January 28, 2016
PubMed

Insights

Turner syndrome (TS) patients experiencing sudden lower limb weakness may have spinal hemorrhage. Prompt spine MRI and dexamethasone treatment can aid recovery from vertebral artery rupture.

Area of Science:

  • Genetics and Human Diseases
  • Neurology
  • Cardiovascular Medicine

Background:

  • Turner syndrome (TS) is a common chromosomal disorder.
  • Cardiovascular comorbidities, particularly vascular abnormalities, are frequent in TS.
  • Vertebral artery dissection is a rare but serious complication.

Purpose of the Study:

  • To report a rare case of spinal hemorrhage due to vascular malformation in a child with Turner syndrome.
  • To highlight the importance of considering spinal vessel rupture in TS patients with sudden lower limb weakness.
  • To suggest diagnostic and management strategies for vertebral artery hemorrhage in TS.

Main Methods:

  • Case report of a 9-year-old girl with Turner syndrome.
  • Diagnosis of spinal hemorrhage secondary to vascular malformation.
  • Treatment with high-dose intravenous dexamethasone.

Main Results:

  • The patient presented with bilateral lower leg weakness.
  • Spinal hemorrhage due to vascular malformation was diagnosed.
  • The patient regained ambulation after 6 days of dexamethasone treatment.

Conclusions:

  • Sudden lower limb weakness in Turner syndrome patients warrants consideration of spinal vessel rupture.
  • Early diagnosis via spine MRI is crucial.
  • Prompt treatment with high-dose dexamethasone may be effective in managing vertebral artery hemorrhage in TS.

Keywords:
Turner syndromeVascular malformationsVertebral artery dissection

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