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The British and Irish Porphyria Network guidelines describe best practice in the clinical assessment, investigation and management of acute porphyria attacks and their complications, including severe attacks with neuropathy. Acute attacks of porphyria may occur in acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP). Aminolaevulinic acid dehydratase deficiency porphyria (ADP) is a very rare autosomal recessive porphyria; only six cases substantiated by mutation analysis have yet been described in the literature. Urinary porphobilinogen (PBG) is always raised in an acute attack due to AIP, VP or HCP and this analysis is essential to confirm the diagnosis. A positive result in a qualitative or semi-quantitative screening test must be followed by PBG quantitation at the earliest opportunity. However in a severely ill patient, treatment should not be delayed. Removal of precipitating factors, effective analgesia and control of symptoms with safe medication, attention to nutrition and fluid balance are essential. The indications for use of intravenous haem arginate are set out, together with advice on its administration. A small proportion of acute porphyria patients develop recurrent attacks and management options that may be considered include gonadotrophin-releasing hormone analogues, 'prophylactic' regular haem arginate infusion or ultimately, liver transplantation.

Acute intermittent porphyria is a metabolic disorder rarely seen in prepubertal children. A delay in diagnosis of acute intermittent porphyria is common because of variable and nonspecific symptoms. We report an 8-year-old boy with right hemimegalencephaly and intractable seizures, who presented with dark-colored urine, hypertension, increasing lethargy, fluctuating seizures, and poor oral intake. He subsequently developed hyponatremia secondary to syndrome of inappropriate antidiuretic hormone secretion. His urinalysis was negative for red blood cells, and a random urine porphobilinogen level was elevated. Further biochemical and molecular testing confirmed the diagnosis of acute intermittent porphyria. His antiepileptic medications were discontinued and hemin administered, with dramatic clinical improvement. The diagnosis of acute intermittent porphyria was challenging because of his underlying neurologic condition. This case highlights the variable presentation of acute intermittent porphyria and emphasizes the importance of considering the diagnosis even in young patients with underlying neurologic conditions when they present with nonspecific neurovisceral symptoms or with unexplained neurologic deterioration.

A 47-year-old man presented with abdominal pain, neck stiffness, severe transient hypertension and unusually dark urine. Cerebrospinal fluid investigations and angiography confirmed the diagnosis of a subarachnoid haemorrhage. Porphyrin studies on the patient and his family demonstrated that the family has acute intermittent porphyria. This is the second case report of an acute hepatic porphyria presenting with a subarachnoid haemorrhage. Acute transient hypertension during the attack of porphyria caused the rupture of an intracranial arterial aneurysm.

A case of a young woman who suffers from refractory epilepsy in the form of Rasmussen encephalitis and acute intermittent porphyria is presented. The patient developed refractory partial seizures with progressive hemispheric atrophy in the first decade. Both her serum and cerebrospinal fluid contained significantly elevated levels of anti-GluR3B antibodies. Her serum also contained anti-NR2A antibodies (directed against the N-methyl-D-aspartate receptor). Seven years later, acute intermittent porphyria was diagnosed as she developed an acute episode of abdominal pain, dark urine, and hyponatremia. For several years, all attempts to discontinue porphyrinogenic antiepileptic drugs such as phenobarbital and valproate resulted in seizure worsening. During a major acute intermittent porphyria crisis, brain edema and coma developed, allowing the discontinuation of phenobarbital. On recovery, atrophy of the right hemisphere ensued. Several etiologic hypotheses are presented. Double insults, porphyria, and an autoimmune process are suggested for the development of Rasmussen encephalitis in this patient. The authors recommend testing for porphyria in cases of Rasmussen encephalitis and other intractable seizures.

The differential diagnosis of abdominal pain with associated hyponatraemia should include acute intermittent porphyria. Development of hyperthyroidism in a patient with latent porphyria may precipitate an acute attack and increase disease severity. Treatment of hyperthyroidism may prevent recurrent episodes.

There are several conditions associated with rhabdomyolysis, such as direct muscle injury, viral infections, metabolic disorders and toxic effects from ingestion of drugs such as alcohol, opiates, cocaine or heroin. We report on a patient who was admitted to the accident and emergency unit with a clinical presentation of rhabdomyolysis and acute intermittent porphyria.