Turner syndrome (TS) is a relatively common chromosomal disorder and is associated with a range of comorbidities involving the cardiovascular system. Vascular abnormalities, in particular, are a common finding in cases of TS. However, dissection involving the vertebral arteries is rare. Here, we report the case of a 9-year-old girl with TS who had been treated with growth hormone replacement therapy for the past 3 years. She presented with weakness of both lower legs, and was ultimately diagnosed with spinal hemorrhage due to vascular malformation. We treated her with intravenous high dose dexamethasone (0.6 mg/kg) and she could walk without assistance after 6 days of treatment. In conclusion, when a patient with TS shows sudden weakness of the lower limbs, we should consider the possibility of spinal vessel rupture and try to take spine magnetic resonance imaging as soon as possible. We suggest a direction how to make a proper diagnosis and management of sudden vertebral artery hemorrhage in patients with TS.
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http://dx.doi.org/10.6065/apem.2015.20.4.235 | DOI Listing |
Rev Bras Ortop (Sao Paulo)
November 2024
Hospital Israelita Albert Einstein, São Paulo, SP, Brasil.
Brachial neuritis, or Parsonage-Turner syndrome, is a rare disease characterized by a sudden, self-limiting pain in the upper limb followed by weakness and atrophy of the shoulder girdle muscles. Bilateral brachial plexus involvement occurs in between 10 and 30% of the patients, but symptoms are usually asymmetrical. The most common etiological factors include infection (25 to 55%) and autoimmune conditions.
View Article and Find Full Text PDFInt J Cardiol Congenit Heart Dis
March 2024
Department of Internal Medicine and Clinical Nutrition, Institution of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Background: Aortic dilation, cardiac malformations and hypertension are known risk factors for aortic dissection in Turner syndrome (TS). In the current guidelines, rapid growth of the aorta has been added as a risk marker. This study aimed to estimate the growth of the ascending aorta over time, to identify risk factors of aortic growth, and to describe aortic complications in TS.
View Article and Find Full Text PDFCureus
November 2024
Orthopedic Surgery, Universiti Putra Malaysia, Serdang, MYS.
Kyphoscoliosis is a spinal disorder where the spine's natural curvature is abnormally altered in multiple planes. It may be associated with the presence of a hemivertebrae, as discussed in this case. Negligence of this deformity may cause symptoms of back pain, worsening spinal deformity leading to reduced lung expansion, or neurological deficit impacting the quality of life for the worse.
View Article and Find Full Text PDFmedRxiv
December 2024
Department of Pediatrics, Section of Endocrinology, University of Colorado SOM, Aurora, Colorado, USA.
Context: 47,XXY/Klinefelter syndrome (XXY) is associated with impaired testicular function and differences in physical growth, metabolism, and neurodevelopment. Clinical features of XXY may be attributable to inadequate testosterone during the mini-puberty period of infancy.
Objective: We tested the hypothesis that exogenous testosterone treatment positively effects short-term physical, hormonal, and neurodevelopmental outcomes in infants with XXY.
Turner syndrome is a rare chromosomal abnormality in women that is caused by a partial or complete loss of one X chromosome and is often associated with a spectrum of congenital cardiac abnormalities, including cardiac shunts. A 27-year-old woman with Turner syndrome was also found to have right ventricular dilation, partial anomalous pulmonary venous return, and possible atrial septal defect. She was scheduled for elective surgical repair.
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