Reversible Cerebral Vasospasm in Acute Intermittent Porphyria: A Case Report and Review of the Literature.

The porphyrias are rare inherited diseases of heme biosynthesis which can involve the nervous system. The most common neurological manifestations of acute intermittent porphyria are autonomic visceral neuropathy, peripheral motor neuropathy, and central nervous system dysfunction. In rare cases, patients with acute intermittent porphyria have presented with cerebral infarction, suggested to be due to vasospasm in cerebral arteries. We report a case of reversible vasospasm in porphyric encephalopathy demonstrated by both magnetic resonance and conventional angiography. Unexplained abdominal pain occurred before the onset of neurological symptoms. LEARNING POINTS: Acute intermittent porphyria can affect the central nervous system.Abdominal pain with neurological symptoms should prompt consideration of porphyria.Cerebral vasospasm is implicated in the pathogenesis of cerebral infarction.Heme arginate is the treatment of choice for central nervous system injury.

Acute Recurrent Pericarditis as the Inaugural Manifestation of Familial Mediterranean Fever.

Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder commonly found among individuals of Mediterranean or Middle Eastern descent and caused by Mediterranean Fever gene (MEFV) mutations on chromosome 16. It is the most frequent periodic febrile syndrome among the autoinflammatory syndromes. Typical febrile attacks include serosal inflammation, but although FMF is characterized by recurrent polyserositis, there is a little documentation of pericardial disease among patients. We report the case of a patient who presented recurrent pericarditis. Each episode occurred with a high fever and elevation of the C-reactive protein level. Treatment with colchicine was effective. The patient was found to be heterozygous for the V726A mutation. LEARNING POINTS: The aetiology of recurrent pericarditis is still largely unknown.The occurrence of pericarditis as a manifestation of familial Mediterranean fever is controversial.

Intractable Hepatic Hydrothorax: A Successful Outcome following CPAP Treatment.

Hepatic hydrothorax is an uncommon complication in patients with end-stage liver disease. It may result in dyspnoea, hypoxia and infection, and carries a poor prognosis. Initial treatment is based on a sodium-free diet together with diuretics. In case of recurrent hydrothorax, a transjugular intrahepatic portosystemic shunt (TIPS) or liver transplant should be considered. Here we describe an 80-year-old woman with decompensated liver cirrhosis related to NASH who presented with refractory hepatic hydrothorax. Treatment with CPAP resulted in a marked improvement in her pleural effusion. LEARNING POINTS: Hydrothorax is uncommon, occurring in up to 4-6% of all patients with cirrhosis and in up to 10% of patients with decompensated cirrhosis.Hepatic hydrothorax can be refractory to diuretics and salt restriction.CPAP may be an interesting alternative treatment.

Acquired Haemophilia Associated with Urticarial Vasculitis.

Acquired haemophilia (AHA) is a rare autoimmune disorder caused by circulating autoantibodies that inhibit the activity of factor VIII (FVIII). Acquired inhibitors against FVIII are rarely seen, with a reported incidence of approximately 1 case per million/year. Clinical conditions and contexts associated with AHA include autoimmune diseases, lymphoproliferative malignancies, drug treatment, pregnancy and infections. An association with urticarial vasculitis is even more rare. Here, we report a case of a 59-year-old woman presenting with cutaneous and muscle haematomas secondary to AHA in association with urticarial vasculitis, who was successfully treated with factor eight inhibitor bypassing activity (FEIBA) and prednisolone. LEARNING POINTS: Acquired haemophilia (AHA) is a rare autoimmune disease.AHA predisposes to severe, potentially life-threatening haemorrhage.An association with urticarial vasculitis is even more rare.

Spontaneous Periodic Hypothermia in the Elderly: A Rare or Under-Recognised Syndrome.

Spontaneous periodic hypothermia is a rare syndrome presenting with recurrent, centrally mediated hypothermia without an identifiable systemic cause or brain lesion. The case of an 88-year-old woman with recurrent hypothermia is reported. Despite intensive investigation, no other manifestations of hypothalamic or autonomic dysfunction were found. No corpus callosum lesion was seen on MRI. The patient was successfully treated with clomipramine chlorhydrate. LEARNING POINTS: Periodic hypothermia in the elderly is a rare and possibly under-recognised syndrome.The causes of the syndrome remain unknown.Pharmacological trials have only been modestly successful.

Tetraparesis with Major Hypokalaemia and Rhabdomyolysis Induced by Chronic Liquorice Ingestion.

Chronic ingestion of liquorice induces a syndrome with findings similar to those for primary hyperaldosteronism. This is characterized by hypokalaemia, hypertension, metabolic alkalosis and suppression of the renin-aldosterone system. We describe a 30-year-old woman who, with a plasma potassium level of 1.5 mmol/l, presented with tetraparesis and severe rhabdomyolysis (CK up to 35,460 U/l). She admitted to a daily consumption of nearly 300 g of liquorice sweets during the previous 6 months. This case emphasizes the importance of a detailed anamnesis, which is essential for diagnosis, avoids unnecessary and expensive investigations and reduces the duration of hospitalization. LEARNING POINTS: Liquorice, the root of Glycyrrhiza glabra, has been used throughout the millennia for its taste and for medicinal purposes.Chronic ingestion of liquorice can mimic primary hyperaldosteronism.It is important for physicians to keep liquorice consumption in mind as a cause of hypokalaemic paralysis and rhabdomyolysis.

Cannabis Hyperemesis Syndrome: A Still Under-Recognized Syndrome.

Cannabis is one of the most widely used illicit drugs in the world. Its use is associated with several short- and long-term side-effects such as changes in mood, impaired memory, impaired attention, depression and anxiety, and it is correlated with schizophrenia. Cannabinoid hyperemesis syndrome (CHS) is characterized by chronic cannabis use, cyclic intractable nausea and vomiting, and compulsive hot bathing. Patients are typically diagnosed with CHS only after multiple medical evaluations. Recent research has identified type 1 cannabinoid receptors in the intestinal nerve plexus that have an inhibitory effect on gastrointestinal motility. This effect may explain hyperemesis in cannabis users. The thermoregulatory role of endocannabinoids may be responsible for compulsive hot bathing. We describe the cases of two young men seeking repeated emergency room care with recurrent nausea and vomiting. Abstinence from cannabis led to resolution of vomiting symptoms and abdominal pain. LEARNING POINTS: Cannabis is one of the most widely used illicit drugs in world.Cannabinoid hyperemesis syndrome is an under-recognized syndrome that can lead to expensive and unrevealing investigations.Abstinence from cannabis led to resolution of symptoms.

Hypoparathyroidism in systemic lupus erythematosus.

Hypoparathyroidism is a rare disease. The main cause of hypoparathyroidism is postsurgical hypoparathyroidism. However, cases of hypoparathyroidism in patients suffering from SLE exist although it is uncommon. Only three previous cases have been reported. We present the case of a woman suffering both from systemic lupus erythematosus and hypoparathyroidism. This reported association of hypoparathyroidism with lupus expands the spectrum of endocrine disorders seen in this disease. We suggest that there may be a common underlying pathophysiological process linking these diseases.