Cilincal case – a 27 year old female presented to the Emergency Department of Riga East University Hospital complaining of vomiting and abdominal pain. Patient was uncritical, confused, she had several fall episodes because of stumble. Neurological consultation was made, objectively – patient had flaccid tetraparesis, bulbar syndrome. In the laboratory tests hyponatremia and hypokalemia were found. Consultation of gynecologist, fibrogastroscopy and computed tomography of the abdomen were made. In the Gastroenterology department the patient`s general condition worsened and she was admitted to the Intensive care unit. Consultations of neurologists and gastroenterologists, MRI of the brain and spinal cord were made. Due to respiratory disturbances, the patient was intubated and later placed in a tracheostomy. Urine analysis – urine became reddish-brown in color in sun light. Porphobilinogen express test was positive. Coproporphyrin 650 and delta-aminolevulinic acid 19 were found in urine. Nerve conduction study revealed motor-sensory axonal demyElīnating polyneuropathy with greater axonal motor involvement in arms. Brain and spinal cord MRI was without pathological changes. Patient received intravenous hematin 4 doses of 250 mg given 3 days apart and intravenous glucose 10% 500ml per day. After the course of therapy and rehabilitation there was clinical improvement – tracheostomy was evacuated, abdominal pain and hyponatremia, hypokalemia disappeared, bulbar syndrome was no longer present, muscle power improved. Porphyria is a rare disorder that requires early diagnosis because of a potential specific therapy. A physician should suspect porphyria if the patient has motor-predominant peripheral neuropathy, neuropsychiatric manifestations and gastrointestinal complaints.
- 3.4. Other publications in conference proceedings (including local)