Acute Porphyria: A Neurological Perspective

Dr. V. Stefanescu, Prof. Dr. O. Bajenaru, Dr. A. Craciunoiu

Spitalul Universitar de Urgenta Bucuresti

Background Diagnostic workup

Enzyme deficits in the heme metabolism are the
underlying cause of a group of diseases called
porphyrias. In respect of the onset, they can be
acute or chronic. Acute porphyrias have a wide
range af symptoms, from mild abdominal pain, to
severe neurologic or psychiatric symptoms.
Cervical CT showing cervical vertebrae fixed in an
abnormal position with stainless steel screws.
Case Report MRI could not be performed due to the stainless
steel screws
Patient history:  EMG: proxymal impairment of the upper limbs with
 37-year-old patient with a history of fractured moderate active denervation.
cervical vertebrae screwed in an abnormal position Laboratory tests: darkening of the urine when
with stainless steel screws; paroxystic atrial exposed to direct sunlight, elevated urinary porphyrins
fibbrilation chemically converted to sinus rhythm, and also elevated serum delta amino levulinic acid
perforated gastric ulcer surgically treated 12 years levels; post-surgical infection of the wound, elevated
ago. serum NSE.
Exploratory laparotomy for intense abdominal
pain found necrotising collitis, and a right iliac
colostoma was placed.
Onset:
 Sudden tetraparesis a few days after laparotomy
General and neurological examination:
 Facial diplegia
Abolished deep throat reflexes, impaired
Differential diagnosis
swallowing Several diagnostics were taken into account:
Tetraplegia involving mostly proxymal muscles.
Acquired polyneuropathy – recent surgical context
Diminished deep tendon reflexes Cervical spinal cord trauma – intubation for the
Clinical course: laparotomy
 Altered general state Acute porphyria – intense abdominal pain,
tetraplegia, VII and X cranial nerves deficit,
Hallucinations
hallucinations, seizures. The diagnostic was
Seizures
established when the porpyrins and delta-amino
Anysocoria levulinic acid were identified in high concentrations in
Profuse sweating the serum and urine
Irregular breathing, for which the patient was
transferred to the Intensive Care Department and
put on ventilatory suport Discussions
Treatment Although rare, porphyria must be considered in
 Initially the patient was administerd iv patients with acute onset of tetraparesis and cranial
immunoglobulins bot after the laboratory tests nerve deficits, especially when the patient has several
confirmed acute porphyria, the medication was risk factors such as post operatory infection
switched to high concentration glucose until
hematin was procured and administered.