OPTIC ATROPHY IN ACUTE I N T E R M I T T E N T PORPHYRIA M A R Y D E F R A N C I S C O , B.S.,
P E T E R J. SAVINO, M.D., Philadelphia,
Acute intermittent porphyria is a Mendelian inherited dominant defect in porphyrin synthesis. 1 ' 2 We report herein a case with visual loss as an unusual com plication of acute intermittent porphyria. CASE REPORT A 24-year-old woman had her first seizure in December 1967. All seizures were nonfocal, grand mal type without an aura, with postictal drowsiness, and severe frontal headaches. She was treated as an outpatient with phenytoin sodium and phenobarbital, but satisfactory control of her seizures was never achieved. In May 1970, she was hospitalized for possible phenytoin toxicity. Results of ophthalmologic exam ination were normal. Seizure activity continued in termittently despite oral medication. During 1971, she was examined in a number of hospitals; neuro logic examination including electroencephalography was reported as normal. It was thought that her seizures were hysterical in nature, and she was instructed to continue both psychiatric counselling and anticonvulsant therapy. In May 1973, her condition deteriorated and sei zures occurred as frequently as once a day. On May 11, 1973, in addition to seizures, she had nausea, vomiting, and abdominal pain; she was hospitalized on May 15, 1973. At that time, the only significant finding was hypokalemia with accompanying elec trocardiographs changes. She was treated with phenytoin, potassium, and intramuscular chlorpromazine. On May 18, 1973, she lost control of both bladder and bowel. No localizing neurologic signs were evident. Cerebrospinal fluid examination revealed no abnormalities; blood glucose was with in normal limits. Trifluoperazine was added to the treatment. Her level of consciousness improved and by May 22, 1973, she had regained control of blad der and bowel. As she became more responsive, she complained of the inability to see anything except light. Loss of vision was diagnosed as hysterical. Pupils were noted to be responsive, however, no ophthalmologic examination was performed. She was transferred to a psychiatric hospital with the diagnosis of psychotic reaction. Treatment consisted of phenytoin, phenobarbital, chlorpromazine, triFrom the Neuro-ophthalmology Unit, Wills Eye Hospital; Department of Ophthalmology, Thomas Jefferson University; and the Departments of Oph thalmology and Neurology, University of Pennsyl vania, Philadelphia, Pennsylvania. Reprint requests to Peter J. Savino, M.D., Wills Eye Hospital, 1601 Spring Garden St., Philadelphia, PA 19130.
AND N O R M A N J. S C H A T Z ,
M.D.
Pennsylvania fluoperazine HC1, and trihexyphenidyl HC1. She left the psychiatric hospital one week later. Over a three-week period, her vision gradually, but incompletely, returned. She did not see anything from her left eye. On June 4, 1973, the patient came to here for diagnosis and treatment of her seizure disorder and visual problem. On the basis of the following laboratory tests, a primary diagnosis of acute intermittent porphyria was made: a positive urinary Watson-Schwartz test, urine porphobilinogen of 32.1 mg/24 hr (N
P E T E R J. SAVINO, M.D., Philadelphia,
Acute intermittent porphyria is a Mendelian inherited dominant defect in porphyrin synthesis. 1 ' 2 We report herein a case with visual loss as an unusual com plication of acute intermittent porphyria. CASE REPORT A 24-year-old woman had her first seizure in December 1967. All seizures were nonfocal, grand mal type without an aura, with postictal drowsiness, and severe frontal headaches. She was treated as an outpatient with phenytoin sodium and phenobarbital, but satisfactory control of her seizures was never achieved. In May 1970, she was hospitalized for possible phenytoin toxicity. Results of ophthalmologic exam ination were normal. Seizure activity continued in termittently despite oral medication. During 1971, she was examined in a number of hospitals; neuro logic examination including electroencephalography was reported as normal. It was thought that her seizures were hysterical in nature, and she was instructed to continue both psychiatric counselling and anticonvulsant therapy. In May 1973, her condition deteriorated and sei zures occurred as frequently as once a day. On May 11, 1973, in addition to seizures, she had nausea, vomiting, and abdominal pain; she was hospitalized on May 15, 1973. At that time, the only significant finding was hypokalemia with accompanying elec trocardiographs changes. She was treated with phenytoin, potassium, and intramuscular chlorpromazine. On May 18, 1973, she lost control of both bladder and bowel. No localizing neurologic signs were evident. Cerebrospinal fluid examination revealed no abnormalities; blood glucose was with in normal limits. Trifluoperazine was added to the treatment. Her level of consciousness improved and by May 22, 1973, she had regained control of blad der and bowel. As she became more responsive, she complained of the inability to see anything except light. Loss of vision was diagnosed as hysterical. Pupils were noted to be responsive, however, no ophthalmologic examination was performed. She was transferred to a psychiatric hospital with the diagnosis of psychotic reaction. Treatment consisted of phenytoin, phenobarbital, chlorpromazine, triFrom the Neuro-ophthalmology Unit, Wills Eye Hospital; Department of Ophthalmology, Thomas Jefferson University; and the Departments of Oph thalmology and Neurology, University of Pennsyl vania, Philadelphia, Pennsylvania. Reprint requests to Peter J. Savino, M.D., Wills Eye Hospital, 1601 Spring Garden St., Philadelphia, PA 19130.
AND N O R M A N J. S C H A T Z ,
M.D.
Pennsylvania fluoperazine HC1, and trihexyphenidyl HC1. She left the psychiatric hospital one week later. Over a three-week period, her vision gradually, but incompletely, returned. She did not see anything from her left eye. On June 4, 1973, the patient came to here for diagnosis and treatment of her seizure disorder and visual problem. On the basis of the following laboratory tests, a primary diagnosis of acute intermittent porphyria was made: a positive urinary Watson-Schwartz test, urine porphobilinogen of 32.1 mg/24 hr (N
