A rare case of long-term paraesthesia diagnosed as a paraneoplastic syndrome by anti-SOX1 antibody determination

BMJ Case Rep. 2019 Jul 16;12(7):e228916. doi: 10.1136/bcr-2018-228916.

Abstract

Paraneoplastic syndromes (PS) are a rare presentation of cancer, most commonly associated with small cell lung cancer (SCLC), breast cancer and haematologic malignancies. The diagnosis of PS is challenging because it could affect multiple organ systems and it may present before the tumour is visible by imaging. We report a malignant tumour diagnosed in a male patient who referred long-term paraesthesia and proximal muscle strength loss. After ruling out common causes of polyneuropathy, the anti-SOX1 antibody gave light to the diagnosis. A pulmonary opacity in the upper right lobe was observed in the chest X-ray and a pulmonary tumour was later confirmed by CT scan. The biopsy of the cervical lymphadenopathy determined an SCLC, which caused a PS called Lambert-Eaton myasthenic syndrome (LEMS). Our case raises awareness of a rare PS presentation, which can be diagnosed by specific antibodies, allowing early diagnosis and treatment of lung cancer.

Keywords: immunology; lung cancer (oncology); neurooncology; oncology.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Antineoplastic Combined Chemotherapy Protocols / administration & dosage
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Autoantibodies / blood
  • Diagnosis, Differential
  • Electromyography / methods
  • Humans
  • Lambert-Eaton Myasthenic Syndrome / blood*
  • Lambert-Eaton Myasthenic Syndrome / complications
  • Lambert-Eaton Myasthenic Syndrome / diagnosis
  • Male
  • Paraneoplastic Syndromes / diagnosis*
  • Paraneoplastic Syndromes / physiopathology
  • Paresthesia / etiology*
  • SOXB1 Transcription Factors / antagonists & inhibitors*
  • SOXB1 Transcription Factors / blood
  • Sentinel Lymph Node Biopsy / methods
  • Small Cell Lung Carcinoma / complications
  • Small Cell Lung Carcinoma / diagnostic imaging
  • Small Cell Lung Carcinoma / drug therapy
  • Small Cell Lung Carcinoma / pathology*
  • Tomography, X-Ray Computed / methods
  • Treatment Outcome

Substances

  • Autoantibodies
  • SOX1 protein, human
  • SOXB1 Transcription Factors