It is difficult to diagnose porphylia with absence of special color of urine. We experienced cases of two sisters, in whom little sister was involved first and started with abdominal aching and received operation twice, then she had diagnosis of polyneuritis, anorexia nervosa and finally was diagnosed as myogenic disease. Before her death, elder sister started to have sign of port wine colored urine, thus she was diagnosed as porphylia. This elder sister also had abdominal aching and sensory disturbance of both legs with dysesthesia, so that she was diagnosed as SMON. She was admitted to the another hospitals several times and transfered to us.
Case one, A 34-years-old lady had stomachache in April, 11467 and received surgery with diagnosis of appendicitis, after which once or twice a month she had had abdominal aching and pollakiuria with fever. She had diagnosis of acute nephritis and was admitted to some hospital. But she had second operation with diagnosis of post-operative adhesion of the intestin. After then she lost appetite and developed sensory disturbance of hand which spread over abdominal wall and she was transfered to the medical department of our hospital. At this time she had slight pain at extremities and muscle atrophy. A couple of weeks later she developed nausea and vomiting whenever she saw the meal. She got diagnoses of pyelonephritis, myopathy, polyneuritis and anorexia nervosa. She had several investigations and treatments, and was discharged in improved state in Jan., 1968. At that time she had no sensory or motor disturbance, and she could stand and walk well. In Feb., 1969 she had abdominal aching, lumbago, pain of legs and muscle atrophy. She was admitted to some other hospital without diagnosis and transfered to the neurological department of our hospital. She had no abnormal findings in spinal fluid except increased pressure. She had no change in liver function test and urinalysis. She was diagnosed as polyneuritis, and improved in one month, when her eider sister started to have symptom and visited us.
Case two, A 36-years-old lady developed fever, abdominal aching and constipation in March, 1999. She was admitted in some hospital for two months. She had sensory disturbance, slight pain in both legs and feet. In July, 1969 she developed stomachache, sensory disturbance of legs and difficulty of walking. She had diagnosis of SMON (subacute myelo-optico-neuropathy), then admitted to our hospital in Oct., 1969. She had weakness of grip, sensory disturbance of the upper and lower extremities, difficulty of walking and standing. Tendon reflex of the upper and lower extremities were lost, but no pathological reflex was elicited, In urinalysis urobilin and urobilinogen were positive. Several days after her urine showed port wine like red color, Then by examination of PBG, they were diagnosed as porphylia.
In the hereditary investigation, we found four PBG positive cases in their family including those two patients. But this two other cases showed no sign or symptom.
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