Torticollis in a haemophilic infant with inhibitor: a case of spinal epidural haematoma

Blood Coagul Fibrinolysis. 2016 Jul;27(5):576-9. doi: 10.1097/MBC.0000000000000465.

Abstract

Central nervous system bleeding, which can be a life-threatening complication, is seen in 2.7% of patients with haemophilia. Spinal epidural haematomas represent about one-tenth of such cases. Here, we report on a 10-month-old boy with severe haemophilia A, who presented with torticollis. Although administration of factor VIII at a dose of 50 U/kg, the patient developed flaccid paralysis of the upper extremities. Factor VIII inhibitor screen was positive. Magnetic resonance imaging of the spine revealed spinal epidural haematomas, extending from C-1 to the cauda equina. Treatment was continued with recombinant activated factor VIIa without surgery. After 1 month, complete neurological recovery was achieved and fully resolved haematomas were detected on spinal MRI. A prompt radiological evaluation of the cervical spine with MRI should be made in patients with haemophilia presenting with torticollis. In addition, in the case of life-threatening bleeding in patients with haemophilia, the possibility of an inhibitor should be kept in mind.

Publication types

  • Case Reports

MeSH terms

  • Factor VIII / therapeutic use*
  • Factor VIIa / therapeutic use*
  • Hematoma, Epidural, Spinal / blood
  • Hematoma, Epidural, Spinal / diagnosis
  • Hematoma, Epidural, Spinal / drug therapy*
  • Hematoma, Epidural, Spinal / pathology
  • Hemophilia A / blood
  • Hemophilia A / diagnosis
  • Hemophilia A / drug therapy*
  • Hemophilia A / pathology
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Recombinant Proteins / therapeutic use
  • Torticollis / blood
  • Torticollis / diagnosis
  • Torticollis / drug therapy*
  • Torticollis / pathology
  • Treatment Outcome

Substances

  • Recombinant Proteins
  • Factor VIII
  • recombinant FVIIa
  • Factor VIIa