Botulinum toxin injection for Cockayne syndrome with muscle spasticity over bilateral lower limbs: A case report.

BACKGROUND: Cockayne syndrome (CS) is a rare inherited disease characterized by progressive motor symptoms including muscle weakness, joint contracture, ataxia, and spasticity. Botulinum neurotoxin type A has been used for conditions such as dystonia and spasticity, but it has rarely been used in patients with CS. CASE SUMMARY: We report a 6-year-and-9-mo old girl diagnosed with CS who received an injection of botulinum neurotoxin type A to manage her difficulty with walking. A total dose of 210 units of botulinum neurotoxin type A was administered into the bilateral tibialis posterior and gastrocnemius muscles. To evaluate the treatment effects on spasticity, joint contracture, pain, and ataxia, measurement tools including the Modified Ashworth Scale, the passive range of motion, the Faces Pain Scale-Revised, and the Scale for the Assessment and Rating of Ataxia, were employed. The first week after the injection, the Modified Ashworth Scale score for the plantar flexors and foot invertors improved bilaterally, along with advancements in the passive range of motion of the bilateral ankles and a lower score for the Faces Pain Scale-Revised. These treatment effects persisted to the 8th week post-injection, but returned to baseline values at the 12th week post-injection, except for the pain scale. CONCLUSION: Botulinum toxin injection can thus be considered as a treatment option for lower extremity spasticity, joint contracture, and pain derived from CS.

Multiple Beneficial Effects of High-dose BoNT-A Injection to Improve Wound Healing and Spasticity in a Patient With Hypoxic Encephalopathy Due to High-voltage Electrical Injury.

INTRODUCTION: High-voltage electrical injuries remain a difficult challenge for physicians. The survivors often have complicated wounds over the trunk or extremities, and some of them may develop hypoxic encephalopathy. The emergence of spasticity following hypoxic encephalopathy may further interfere with the healing of wounds. CASE REPORT: The authors report the case of a 17-year-old male with strong spasticity of finger flexors graded 4 by the Modified Ashworth Scale (0-5) after electric shock. He also had a nonhealing wound on the flexor side of the left index finger after 6 weeks of standard wound care. The wound measured 0.3 cm × 0.3 cm × 0.2 cm in size. The authors hypothesized that wound healing was negatively affected by spasticity and expected the wound might heal gradually after reducing the strong spasticity of the index finger. The authors employed electrical stimulator for guidance and injected high-dose (50 units/muscle) botulinum toxin type A into the flexor digitorum superficialis and the flexor digitorum profundus of his left index finger. At 7 days following administration, focal spasticity of these muscles in the left index finger decreased from 4 to 1 on the Modified Ashworth Scale. At 21 days post administration, the wound healed completely. CONCLUSIONS: For patients with hypoxic encephalopathy due to high-voltage electrical injury, botulinum toxin type A injection may be an option of therapeutic approach for both reduction of spasticity and facilitation of wound healing.

Spinal cord infarction during physical exertion due to polycythemia vera and aortoiliac occlusive disease: A case report.

RATIONALE: Spinal cord infarction is rarely caused by hypercoagulable states. Polycythemia vera (PV) is a myeloproliferative neoplasm that can contribute to thrombotic events due to increased blood viscosity. We report a case of spinal cord infarction due to extensive aortic thrombosis caused by PV. PATIENT CONCERNS: A 56-year-old man presented with acute paraplegia and urinary retention during heavy physical exertion. DIAGNOSES: Imaging studies revealed spinal cord infarction at the T9 to T12 levels and aortoiliac occlusive disease. PV was diagnosed during workup for elevated hemoglobin level INTERVENTIONS:: The patient received intravenous hydration and anticoagulation for spinal cord infarction. PV was managed with phlebotomy and hydroxyurea. Courses of inpatient and outpatient rehabilitation programs were also given. OUTCOMES: The patient became urinary catheter-free 5 months after disease onset, and was able to walk with walker. The American Spinal Injury Association Impairment scale also improved from C at diagnosis to D during last follow-up. LESSONS: Etiologic workup is important for patients with spinal cord infarction to direct specific treatment strategies. Physical exertion may act as a trigger for infarction in patients at risk for thrombotic events, and monitoring of neurologic status during and after periods of exercise is warranted.