As befits a hematologic class of disorders, the word "porphyria" derives from the Greek word porphuros, which means red or purple (1). The porphyrias (Table 1 and Table 2) are a group of rare metabolic disorders arising from reduced activity of any of the enzymes in the heme biosynthetic pathway. The disorders may be either acquired (for instance, through a toxin acting on one of the enzymes) or inherited through a genetic defect in a gene encoding these enzymes. These deficiencies disrupt normal heme production, with symptoms especially prominent when increased heme is required. Porphyrin precursors, overproduced in response to synthetic pathway blockages, accumulate in the body (1-31), cause diverse pathologic changes, and become the basis for diagnostic tests.In this review we focus on the two neuroporphyrias (acute intermittent porphyria and plumboporphyria) and the two neurocutaneous porphyrias (hereditary coproporphyria and variegate porphyria). These four entities, of all the porphyrias, are the only ones with neuropsychiatric manifestations. We use a case of variegate porphyria to illustrate how the manifestations may be broad, the relevance in neuropsychiatric disorders overlooked, and the diagnosis unsuspected. Given the variable and nonspecific clinical features, we emphasize the need to carefully interpret excretion patterns and concentrations of porphyrin precursors in urine and stool to make a specific diagnosis. The workup of any potential case needs to be individualized, taking into consideration both the history and the symptoms at the time of evaluation. We discuss the complexities of making a diagnosis of porphyria. Without carefully gathering a history and having a clear understanding of what laboratory tests can and cannot show, making the diagnosis will be delayed, possibly resulting in increased morbidity and use of medical and financial resources. When evaluating complicated neuropsychiatric cases of uncertain cause, we advocate maintaining a high degree of awareness for porphyria. Case PresentationMr. A, a 47-year-old, married, male florist with no significant previous medical or psychiatric history, presented to a local neurologist with a 3-month history of symptoms of apparent neurologic origin. He had had progressive loss of memory and concentration, spells of confusion, and indeterminate jerking spasms of the upper extremities and facial muscles that lasted only seconds but occurred up to 30 times per day. The neurologic examination was normal; the neurologist did not make a specific diagnosis but did prescribe nefazodone, an antidepressant.A few weeks later, psychiatric symptoms developed that were serious enough to warrant admission to a local hospital. Mr. A had paranoid delusions and auditory hallucinations. He heard animals in his room and thought the police wanted to harm him. He had hyponatremia, so before his transfer to the psychiatric ward, an internist evaluated him but offered no specific explanation for the hyponatremia. A psychiatric mood disorder was diagnosed, and Mr...

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Nar colepsy with cataplexy is a serious chronic neuropsychiatric disorder that typically begins at an early age. It has the potential to greatly disrupt social, educational, and vocational development. Because of the nature of its symptoms (e.g., excessive daytime sleepiness), narcolepsy provides insights into the mechanisms regulating human sleep. Its universal symptom of daytime sleepiness probably contributes most substantially to the resulting impaired quality of life that has been documented (1). A specific and intriguing sign of narcolepsy is cataplexy, a transient muscle weakness triggered by emotions. Other classic but nonspecific symptoms include sleep paralysis and hypnagogic hallucinations. Disturbed nocturnal sleep is the most recent addition to the classic symptom complex. Case PresentationMr. A, a 21-year-old college student, came to a sleep disorders center for evaluation of excessive daytime sleepiness. This symptom started at age 11, when he and his family noticed that he seemed to need more sleep than his peers. At age 13, he had daily spells of a sudden inability to move that were consistently triggered by laughter. During these episodes, his head would nod or his knees would buckle, but he would not fall down. These phenomena are consistent with cataplexy. The patient also experienced incidents of inability to move for several minutes after awakening from sleep, which indicated sleep paralysis, and he had nightly dreams that he described as "very real." These vivid dreams featured activities he had been engaged in during the preceding day. When the patient was 14, he had an overnight polysomnogram, which his parents reported gave no explanation for his symptoms. The records of that previous sleep study were unavailable for review.After high school, the patient's excessive daytime sleepiness and cataplexy persisted. He attended college but struggled academically, with a grade point average of 2.0 on a 4.0-point scale. His description of his sleeping habits indicated an altered sleep-wake pattern. He would typically stay awake until 2:00 or 3:00 a.m. watching television or listening to music. After falling asleep, he often awakened several times during the night.Although Mr. A had a history of ongoing nicotine dependence, he reported no past history of psychiatric disorders such as major depression or chemical dependency. He had no record of any learning disorder. His medical history and surgical history were significant only for a tonsillectomy.The patient was attending community college and living at home with his parents. He was socially active and spent considerable time with friends or working out in the gym. He drove a motor vehicle short distances on a daily basis and reported no motor vehicle accidents. He had no known family history of a sleep disorder or a psychiatric disorder.A mental status examination showed Mr. A to be alert and able to make good eye contact. His speech and language skills were normal. His mood was slightly anxious, and his affect was appropriate. His thought form ...

Electroconvulsive therapy (ECT) is a safe and effective treatment for depression. Furthermore, modifications to ECT have made it a safe procedure for patients who were previously thought to be too ill or old to undergo the stress of convulsions. Little is known, however, of the safety of performing ECT on patients with severe thrombocytopenia. Such patients may be at increased risk for hemorrhagic complications due to the procedure. In this article, we describe the case of a 74-year-old man with major depression and myelodysplastic syndrome with associated severe thrombocytopenia, who underwent successful administration of a full course (nine treatments) of ECT. The physiologic changes caused by modified ECT and the potential risk of hemorrhage (including intracranial hemorrhage) in thrombocytopenic patients undergoing ECT are also discussed.

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