Neuropsychiatric Manifestation of Acute Intermittent Porphyria

Overview

Case Presentation

A 17-year-old female patient presented to the emergency department with complaints of severe colicky abdominal pain for the past two days. The patient was having diffuse abdominal pain.

Physical Examination

  • The ultrasonography of the abdomen and abdominal X-ray, serum lipase, and amylase level of the patient was normal.
  • The blood pressure of the patient was about 150/10 mmHg and she had a pulse rate of 130/min. 
  • She was tachypneic and disoriented.
  • The patient also had a third-person auditory hallucination.
  • RBS, serum electrolytes, and oxygen saturation were normal. CT head was normal.
  • Renal function tests, liver function tests, and complete blood counts were normal.

Medical History

  • The patient used to get similar episodes of abdominal pain for the past 2 years almost every month, 7-8 days following her menstrual period.
  • She had consulted multiple doctors but a definite diagnosis was not made.
  • She also had a history of seizures 6 years ago for which she was evaluated and she never had a recurrence in this past year therefore she was not on any treatment. 

Family History

  • No family history of similar complaints was found.

Clinical Examination

  • The patient was emaciated and was having diaphoresis and tremors in their hands, no cutaneous lesions were present.
  • Because of abdominal pain, neuropsychiatric disease, and associated autonomic dysfunction urine, porphyrin precursor porphobilinogen was done and was positive, hence the diagnosis of Acute Intermittent Porphyria was made. 
  • Classic discoloration of urine color on exposure to sunlight was also demonstrated.
  • Psychiatry consultation was done because of hallucination and the impression of an organic schizophrenia-like disorder was given.
  • The patient developed one episode of seizure in the emergency department for which she was hospitalized.

Treatment

  • The patient was treated with levetiracetam. However, she developed levetiracetam-induced psychosis and in the opinion of a psychiatrist and neuro physician, she was started on brivaracetam 50 mg BD.
  • Following the seizure episode, the patient was drowsy.
  • The patient developed acute onset of weakness in both lower limbs.
  • She was treated with a high carbohydrate diet and dextrose-containing intravenous fluids, brivaracetam, antipsychotic drugs, and mechanical ventilation.
  • Tachycardia was controlled with beta-blockers.

Clinical Outcome

  • The patient was admitted to the intensive care units and ventilated and was improving. 
  • She had regained consciousness and the power of her lower limbs had not improved yet.

Adapted from:

  1. Parate T, Tony KS, Bhiwgade R, Pathan F. Neuropsychiatric manifestation of acute intermittent porphyria: A case report. Vidarbha J Intern Med 2022;32:77-9