Kyphoscoliosis: looking beyond the spine.

نویسندگان

  • Joana Fonseca Ferreira
  • Margarida Coutinho
  • Cátia Duarte
  • José da Silva
چکیده

To cite: Ferreira JF, Coutinho M, Duarte C, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2014-209096 DESCRIPTION A 38-year-old woman was referred to the rheumatology department due to mechanical low back pain and progressive scoliosis that started in adolescence. She had no other joint or systemic symptoms despite pigmented skin lesions scattered throughout the body. The physical examination revealed severe dorsal kyphosis associated with structural lumbar scoliosis and numerous ‘café-au-lait’ lesions (figure 1) spread over the skin, freckling in the arm pits and inguinal folds (figure 2). The radiographs revealed spinal misalignment, without fractures or lytic lesions. No relevant changes were observed in laboratory tests (figure 3). A diagnosis of neurofibromatosis type 1 (NF1) was established. Genetic testing revealed a mutation on NF1 gene, confirming the diagnosis. One year later, the patient presented with persistent frontal headache, resistant to acetaminophen and non-steroidal anti-inflammatory drugs. A cranial CT scan revealed bilateral thickened optic nerves, suggesting optic gliomas (figure 4), a hallmark of this disease.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Congenital Kyphoscoliosis in Monozygotic Twins: Ten-Year Follow-up Treated by Posterior Vertebral Column Resection (PVCR)

The etiology of congenital scoliosis and its development remains unclear and has not yet been fully identified, even there are theories that congenital scoliosis could be derived from the failure of formation or failure of segmentation, which are etiologically heterogeneous with genetic, epigenetic, and environmental factors contributing to their occurrence. We reported a case of long-term foll...

متن کامل

Difficult endotracheal intubation secondary to tracheal deviation and stenosis in a patient with severe kyphoscoliosis: a case report

We report on a case of difficult endotracheal intubation in a patient with marked tracheal deviation at an angle of 90 degrees combined with stenosis due to kyphoscoliosis with vertebral body fusion. After induction of general anesthesia, a proper laryngeal view was easily obtained using a videolaryngoscope. But a tracheal tube could not be advanced more than 3 cm beyond the vocal cords due to ...

متن کامل

Anesthetic Management of a Parturient with Poliomyelitis Associated with Kyphoscoliosis

67 NJOG / VOL 9 / NO. 1 / ISSUE 17/ Jan-Jun, 2014 A 27-year-old primigravida with poliomyelitis associated with kyphoscoliosis underwent cesarean section under spinal anesthesia. Anesthesia poses a significant risk to a parturient with kyphoscoliosis and there is no single regimen that can be recommended for anesthetic management. Regional anesthesia is also challenging for anesthesiologist bec...

متن کامل

Anaesthetic management of a parturient with severe kyphoscoliosis.

Use of neuraxial block in a patient with severe kyphoscoliosis is controversial. We describe the anaesthetic management by spinal anaesthesia of a parturient with severe kyphoscoliosis in obstructed labour. The perioperative course was uneventful. We suggest that a patient with severe kyphoscoliosis may be successfully managed by spinal anaesthesia for caesarean section.

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • BMJ case reports

دوره 2015  شماره 

صفحات  -

تاریخ انتشار 2015