Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.

We studied a 33-year-old woman with a negative family history. Both of her parents were examined clinically by nerve conduction velocities (NCVs) and EMG, with normal results. The clinical onset of her condition was at 24 months, with severe weakness and atrophy of her feet and hands, but the proximal muscles were relatively spared. She had bilateral pes cavus, distal weakness and hypesthesia for touch and proprioception, areflexia, claw hands, and severe thoracolumbar kyphoscoliosis. NCVs showed absent motor and sensory responses and EMG revealed diffuse fibrillation potentials. Molecular genetic studies indicated a de novo dominant missense point mutation of exon 3 of the peripheral myelin protein 22 gene at nucleotide 264 that caused the replacement of serine with leucine.

Economic considerations in the use of laparoscopy for diagnosing pelvic inflammatory disease.

The clinical diagnosis of pelvic inflammatory disease (PID) is associated with an average accuracy rate of 65% when preoperative impressions are confirmed or rejected with laparoscopy. The cost of this error rate should be evaluated when considering the cost and risks of immediate laparoscopy in patients suspected of having PID. This study reviewed selected patient admissions for PID from Northwestern Memorial Hospital for the years 1981-1985. The costs of hospitalization and treatment and the inherent diagnostic error rate were considered concurrently. No significant additional expense would have been incurred if all the women admitted with a clinical diagnosis of PID had had laparoscopic verification of their clinical diagnoses as compared to the cost of treatment with intravenous antibiotics for three to five days. We recommend the early use of laparoscopy in establishing the diagnosis of PID because it ensures a more accurate and definitive diagnosis and does not add significantly to costs.