Case 2: Long-standing neuropathy with acute onset of weakness

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A 16-year-old girl with presumed Charcot-Marie-Tooth disease presented to the emergency department with an acute onset of lower limb weakness. She was unable to walk where previously she had been fully ambulatory. One month before presentation, she had a three-week history of abdominal pain. Five days before presentation, she developed bilateral shoulder and upper back pain. The morning of her presentation, she had difficulty getting up off the floor and getting in and out of the bathtub. She reported that her legs were numb and ‘wobbly’. She had no presyncopal symptoms. She denied urinary incontinence. Bowel dysfunction was difficult to assess because she usually stooled once per week. She had no fevers or night sweats. Her history was significant for orthopaedic surgeries. She was followed for bilateral pes cavus deformities and progressive right foot varus deformity for which she had required surgery several years earlier. Her presumed diagnosis of Charcot-Marie-Tooth disease was based on her orthopaedic findings and her family history. Her mother, maternal aunt and other relatives on her mother’s side had been diagnosed by genetic testing. The patient herself had not had genetic testing and was not followed by a neurologist at the time of presentation. As a result, her premorbid neurological examination was unknown. A physical examination at presentation revealed stable vital signs with a blood pressure of 110/66 mmHg. Her lower limbs were weak, with the right side weaker than the left. The proximal muscles were more severely affected than the distal muscles. She had decreased sensation to pinprick, light touch, and a temperature to the level of T8 to T10 on the left and T4 on the right. Proprioception was inconsistent in the toes, and vibration sense was also decreased in the toes, but was normal at the ankles. Her lower limb reflexes were absent (it was not clear whether she had reflexes present in the past). Plantar responses were flexor and anal tone was normal. The laboratory investigations (complete blood count, electrolytes, calcium, magnesium, phosphate, liver enzymes, lactate dehydrogenase, creatine kinase and erythrocyte sedimentation rate) were unremarkable. A magnetic resonance imaging screen of her spine was normal. She was admitted to hospital for observation and further workup. The day after her admission, the patient’s lower limbs continued to weaken. She became incontinent. After four days, a magnetic resonance imaging screen was performed which revealed the diagnosis.