Progressive Ptosis in Children as a Presenting Sign of Kearns-Sayre Syndrome 

Ron Gal, Eli Lahat

Pediatric Neurology Unit, Assaf Harofeh Medical Center and Sackler Faculty of Medicine, Tel Aviv University

Mitochondrial encephalopathies represent a heterogeneous group of various neurological syndromes caused by defects in mitochondrial metabolism. All clinical syndromes can be subdivided by type of biochemical defect into 3 subgroups: defective oxidation, defects in pyruvate metabolism and various defects in the respiratory chain.

We present a 12-year-old girl admitted for evaluation of progressive ptosis over a period of 3 years, diagnosed as having the rare mitochondrial encephalopathy, Kearns-Sayre syndrome.

Gyrate Atrophy of Choroid and Retina, and Hyperornithinemia 

B-A. Sela, J. Zlotnik, T. Masos, G. Yablonski, F. Abraham

Institute of Chemical Pathology and Goldschlager Eye Institute, Sheba Medical Center, Tel Hashomer; and Sackler Faculty of Medicine, Tel Aviv University

Gyrate atrophy of the choroid and retina is a rare degenerative disease, characterized biochemically by a marked increase in blood ornithine levels, due to deficiency of ornithine S-amino transferase. 4 men aged 35, 36, 48 and 62 years are described with different stages of myopia, night blindness and loss of peripheral vision, which progressed to tunnel vision and partial blindness. Onset of the disease was at ages 3, 10 and 15 years, respectively, while in the 4th patient there was delayed expression starting at about age 50. Most had posterior subcapsular cataracts, and the ocular fundus exhibited demarcated circular areas of chorioretinal degeneration. So far the only patients described in Israel have been of Iraqui origin. Our fourth patient originated from Istanbul, and he may represent a hitherto undescribed variant with a much delayed expression of the disease.

Brief Preoperative Radiotherapy reduces Local Recurrences and Improves Survival in Rectal Cancer

T. Peretz, Z. Weshler,* Y. Goldberg, A.L. Durst, H.R. Freund

Depts. of Surgery and Oncology, Hadassah University Hospitals, and Hebrew University-Hadassah Medical School, Ein Kerem and Mt. Scopus, Jerusalem

Locoregional recurrence of rectal cancer ranges between 20%-50% following apparently radical surgery. Radiation has the potential of reducing this high rate of recurrence and residual disease. A retrospective analysis of 78 patients with locally advanced, biopsy proven, adenocarcinoma of the rectum treated between 1980-1987 was conducted. 28 (36%) were treated by surgery alone (surgery); 29 (37%) by surgery and postoperative radiotherapy (post-op); and 21 (27%) by surgery and preoperative radiotherapy (pre-op). 41 were females and 37 males. The median age was 62 years (range 25-90).

All tumors were resectable. 42 patients (54%) underwent abdomino-perineal resection and 36 (46%) anterior resection patients [8 Dukes B₁ (10%); 37 B₂ (47%); 2 C₁ (3%); 31 C₂ (40%]. Local recurrences were verified by transanal or ultrasound guided needle biopsy.

The 5-year actuarial survival rates by the Kaplan-Meier method for 75 evaluated patients was 55%. Overall 5-year actuarial survival was significantly higher (p=0.001) in pre-op radiotherapy (95%) compared to surgery alone (45%), or surgery with postoperative radiotherapy (32%). The data were significant (p=0.006) for patients with stage B tumors, but not stage C. This trend of improved survival held also at 8-year follow-up (80% pre-op; 32% post-op; 27% surgery). The 5-year actuarial local control was significantly better (p=0.03) for the pre-op irradiated patients (22%), compared with surgery only (56%) and post-op radiotherapy (38%). Local control was better (p=0.02) for Dukes B tumors in the preoperative group, but not Dukes C tumors.

Actuarial 5-year survival of those without distant metastases was 87% for pre-op patients, 62% for surgery alone and 48% for post-op radiotherapy. As all patients were clinically classified as advanced rectal tumors, tumor downstaging by preoperative radiotherapy seems to be paramount for local control. Improved local control translates into a siginificant advantage in overall actuarial survival.

*DECEASED.

Endoscopic Parathyroidectomy - Preliminary Experience 

Joseph Kuriansky, Laureano Fernandez-Cruz

Dept. of General Surgery and Transplantation, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University; and Dept. of Surgery, Hospital Clinic, University of Barcelona

Since the advent of extraperitoneal approaches for laparoscopic surgery, the creation of extraperitoneal virtual spaces has spread rapidly. We describe our preliminary experience with selective neck exploration and endoscopic parathyroidectomy in 4 women, aged 57-74, with primary hyperparathyroidism.

Preoperative localization of parathyroid adenoma was assessed by technetium-sestamibi scanning and cervical ultrasonography. A cervical work space was created by the introduction of a trocar with an inflatable balloon-tip and maintained with low-pressure CO² insufflation. All procedures were completed endoscopically. There were no intraoperative complications. Mean operative time was 40 minutes and cosmetic results were very satisfactory.

We found endoscopic parathyroidectomy a feasible and safe option and particularly appropriate for the surgical treatment of primary hyperparathyroidism. Further refinements in technique will enhance its practicability in exploring the mediastinum for ectopic parathyroid glands and in those with secondary hyperparathyroidism.

Transarterial Oil Chemoembolization for Hepatocellular Carcinoma 

Izhar Levy, Anthony Verstandig, Talia Sasson, Dana Wolf, Ilia Krichon, Eugin Libson, Pinchas Levensart, Orit Papo, Oded Yurim, Ahmed Id, Daniel Shouval

Division of Medicine, Liver Unit and Invasive Radiology, Radiology, Pathology and Surgery Depts., Hadassah University Hospital, Ein Kerem, Jerusalem

Hepatocellular carcinoma (HCC) is a common malignancy with a grave prognosis. Most patients have both the malignant tumor as well as hepatic cirrhosis. Liver transplantation or hepatectomy are considered the only curative procedures, but can be applied in fewer than 10% of patients. In recent decades the most common treatments of HCC are transarterial chemoembolization with oil (TOCE) and percutaneous ethanol injection (PEI). We summarize our retrospective study of 100 patients (mean age 64) 3‏ treated by TE.

In 271 procedures between 1989-1998, in 16 patients hepatectomy was combined with TOCE and in 8 PEI was combined with TOCE, while the rest were treated by TOCE alone. Tumor mass was reduced in 36% of those treated by TOCE (tumor volume reduced 24-75%). Alpha-feto protein (AFP) was reduced 25-90% in 20/32 of those with elevated AFP levels. Median survival for the 100 in the entire group was 19 months (10.9 months in those with conservative treatment). Median survival in the 57 in Okuda stage 1 and the 43 in stages 2 or 3 was 30.1 months and 10.9 months, respectively (p<0.0001). Of the 57 in stage 1, 16 underwent hepatectomy in addition to TOCE and 41 were treated only by TOCE (median survival 15 and 26 months, respectively, p not significant).

Comparing Okuda 1 patients treated by TOCE only with the natural history of the disease and historical controls (Okuda 1 patients treated conservatively in 1984) median survival was 26 and 10 months respectively (p<0.001). The side effects of TOCE were relatively mild. There was 1 fatality (3 days after treatment), and quality of life was maintained. Despite progress in the treatment of HCC by TOCE, PEI, and liver transplantation, long-term survival has remained unsatisfactory.

Sacrospinous Ligament Fixation for Vaginal Vault Prolapse

M. Neuman, B. Zuckerman, O. Lavie, U. Beller

Division of Gynecological Surgery and Oncology, Shaare Zedek Medical Center, Jerusalem

Sacrospinous ligament fixation is a well-known method for correction of vaginal vault prolapse. The procedure is primarily indicated after hysterectomy and as a prophylactic measure for total uterine prolapse.

8 women with post-hysterectomy vaginal vault prolapse aged 48-72 years, were referred 1-25 years following primary surgery. Sacrospinous ligament fixation was elected to enable simultaneous correction of cystocele and rectocele, and to preserve sexual function. All operations were completed without significant complications.

In 6 of the 8 patients located for long-term interview, 1 reported mild bulging of the introitus, another mild urinary stress incontinence, urgency and frequency and 1 reported frequency only. Sexual function in 4 was without complaints. Defecation in all patients was normal.
We conclude that this operation is safe and effective. We encourage gynecologic surgeons to consult an experienced tutor prior to performing this procedure, as this type of surgery is quite dangerous and many gynecologists are not familiar enough with it.  

Corneal Infection - Causes and Effects on Vision

Y. Domniz, R. Avisar, H. Savir

Ophthalmology Depts., Assaf Harofeh Medical Center, Zerifin, and Hasharon Hospital, Petah Tikva

We conducted a retrospective 5-year survey of corneal infections treated in the ophthalmology ward of Hasharon Hospital. The most frequent type of corneal infection was corneal abscess; the most frequent cause was Staphylococcus albus, although this bacterium is not reported as a frequent cause of corneal infections.

There was improvement in visual acuity in 69.2% and no change in 15.4%. Corneal infection by Pseudomonas aeruginosa was the most frequent cause of worsening of corneal acuity (23.08%). The greatest improvement of visual acuity was in those with corneal ulcers. The worst visual acuity was in those with corneal abscesses. Pseudomonas aeruginosa was the main cause of infection in contact-lens wearers.

In the world medical literature, Staphylococcus albus is considered of very low virulence. This bacterium was the most frequent cause of corneal infections in our study so it may have greater virulence in Israel.

Hemorrhoidectomy Using A Circular Stapler 

Asaf Levanon, Arie Biterman, A. Behar, Oded Cohen

Dept. of Surgery A, Carmel Medical Center, Haifa

We compared traditional local excision of hemorrhoids in 40 patients (group A) with excision using the CDH-33 surgical stapler designed for bowel anastomosis, in 41 (group B). In this technique a purse-string suture is prepared 3 cm above the dentate line, and the stapler is inserted and used to form a mucosa-mucosal anastomosis. This technique is less time-consuming than the traditional technique.

Data were collected from patients' medical files and from detailed questionnaires in which symptoms prior to and after operation were reported. Mean ages were 53.0 and 51.5 years and male/female ratios were 1.0:1.2 and 1.0:1.1 respectively, neither significant. The most common complaints in both groups were pain and rectal bleeding. All patients had a lower-GI investigation prior to operation to exclude other causes of rectal bleeding.

Recovery averaged 2 months in both groups. Patient satisfaction was assessed by decrease or absence of symptoms on return to normal daily activities. Satisfaction tended to be greater in group B. More patients in group A complained of tightness and discomfort at the operative site, but this was not significant.

We are extending our study to a larger number of patients to determine if there are statistically significant differences between the results of the 2 methods.

Psychogenic Polydipsia Leading to Water Intoxication

L. Umansky, A. Sella

Psychiatry Dept., Eitanim Mental Health Center (Affiliated with the Hebrew University-Hadassah Medical School, Jerusalem)

Psychogenic polydipsia and its frequent complication, water intoxication, are well-known to psychologists. There are biochemical and psychiatric theories of psychogenic polydipsia which often correlate with each other.

A 48-year-old man with chronic paranoid schizophrenia developed symptoms of psychogenic polydipsia. This provoked disturbances in electrolyte balance, resulting in a rapid decrease in serum sodium concentration and eventual death. There is a paucity of information and little awareness of this problem in the professional literature.

Spontaneous Bilateral Ectopic Pregnancy 

David Rabinerson, B. Kaplan, Zion Ben Rafael, Arie Dekel

Dept. of Gynecology, Beilinson Medical Center, Golda Campus, Petah Tikva, and Sackler Faculty of Medicine, Tel Aviv University

Bilateral, spontaneous ectopic pregnancy is rare (1 in 125-1580 ectopic pregnancies). We describe a 30-year-old, unmarried woman with no predisposing factors for ectopic pregnancy who presented in hypovolemic shock, in the 7th week of gestation, complaining of abdominal pain. On immediate laparoscopy there were found blood and clots in the abdominal cavity, a left ampullar pregnancy (5 cm in diameter), and there was active bleeding from the fimbria of the right tube. Bilateral salpingectomy was performed and she received 3 units of packed red cells. She was discharged in good condition 3 days later. The pathologic diagnosis was pregnancy in each tube. This case emphasizes the need for thorough sonographic and laparoscopic observation in order not to miss the presence of bilateral ectopic pregnancy.

Acute and Chronic Hepatitis C in Hemodialysis Patients 

Nir Hilzenrat, Marcus Mostoslavsky, David Tovbin

Liver Disease Service - Division of Gastroenterology, Dialysis Unit, Dept. of Nephrology and Division of Internal Medicine, Soroka Medical Center and Ben-Gurion University of the Negev, Beer Sheba

Acquired infection with hepatitis C virus (HCV) in hemodialysis patients has been described lately. In dialysis units in Italy and France, the prevalence and incidence of HCV are 20-60% and 1-2%, respectively. Most infected patients develop chronic hepatitis. The clinical presentation of acute HCV in hemodialysis patients is very mild and therefore the diagnosis is often made only by laboratory tests. Acute infection is usually followed by mild elevation of liver enzymes and the presence of HCV-RNA and anti-HCV in serum.

We report a 48-year-old man on hemodialysis who developed acute hepatitis C. The diagnosis was made by finding mild elevation of liver enzymes and the presence of HCV-RNA in his serum. A few months later, he developed severe hepatitis which was followed by rapid deterioration in liver function. However, the virus was eradicated and liver function tests became normal. Surprisingly, serum anti-HCV antibodies were detected 5 months later.

Malaria in Travelers Returning from Endemic Areas

Andre Matalon, Amos Yinnon

Kupat Cholim Klalit, Dan-Petah Tikva District, and Dept. of Family Medicine, Tel Aviv University; and Infectious Disease Unit, Shaare Zedek Hospital and Hebrew University-Hadassah Medical School, Jerusalem

2 cases of malaria in family practice are described in a 26- and a 50-year-old woman. Both probably could have been prevented had common chemoprophylactic drugs been taken. The risk of malaria is greater than the risk of possible side-effects of the drugs commonly used by travelers for prevention. Family physicians must be aware of the possibility of malaria in young people with fever, especially those who have travelled to equatorial areas and special attention should be given to encourage chemoprophylaxis.

Spinal and Extra-Spinal Tumors Mimicking Discal Herniation

E. Tamir, Y. Mirovsky, D. Robinson N. Halperin

Orthopedics Dept., Assaf Harofeh Medical Center, Zerifin

Low back pain radiating to a limb is usually caused by lumbar disc herniation. Tumors of the spinal cord or near the sciatic or femoral plexus can cause neural compression and clinical signs similar to those of disc herniation. Such tumors are usually misdiagnosed as discal herniation and appropriate treatment is delayed. We present 4 men who had tumors causing low back pain radiating to the leg: a 70-year-old with metastatic squamous cell carcinoma of the lung, a 20-year-old with aneurysmal bone cyst of the vertebral column, a 52-year-old with retroperitoneal sarcoma and a 32-year-old who also had retroperitoneal sarcoma. Diagnosis and trwere delayed because the clinical symptoms were ascribed to lumbar disc herniation. The latter 2 patients had CT-scans showing lumbar disc herniation, but similar findings are common among asymptomatic individuals.

The differential diagnosis of low back pain radiating to the leg should include tumor when there is a history of cancer, pain not relieved by conservative treatment nor by lying down, pain is increased at night, pain accompanied by weight loss, and when physical examination demonstrates injury to more than 1 nerve root. In these circumstances work-up should include EMG, radioisotope scan and CT of the pelvis.

Atypical Mycobacterial Cervical Lymphadenitis in Children

B. Klin, I. Boldur, J. Sandbank, Z. Schpirer, I. Vinograd

Depts. of Pediatric Surgery, Microbiology and Pathology, Assaf Harofeh Medical Center, Zerifin, and Sackler Faculty of Medicine, Tel Aviv University

Scrofula (mycobacterial cervical lymphadenitis) has been well-known for thousands of years. Atypical mycobacteria were first categorized by Timpe and Runyon in 1954. Treatment has varied over the centuries, from exclusion therapy in ancient Greece, through digitalis, iodide, chemotherapy, and surgical excision. The varied differential diagnosis and consequent diagnostic and therapeutic challenges make reassessment of this almost forgotten disease necessary.

21 patients with typical mycobacterial cervical lymphaden„itis seen in over the past 5 years were reviewed. Age distribution ranged from 1-14 years, with peak incidence at 4 years; 9 were boys and 12 girls. Most presented with nontender, palpable neck masses and minimal constitutional complaints. Adenopathy was unilateral in all cases but 2. Mycobacterium avium-intracellulare and M. fortuitum were the main causative organisms. All underwent excision of the affected nodes. Long-term follow-up has been uneventful, except for 1 case of local recurrence requiring re-excision.

This study emphasizes the marked variability in the clinical presentation of scrofula in children, stressing the importance of the differential diagnosis between tuberculous and atypical mycobacterial cervical lymphadenitis. The treatment of choice for the latter is complete excision of the affected nodes. Other treatment is followed by recurrence and unnecessary complications and should be avoided.

Hemophagocytic Syndrome

I. Morag, M. Goldman, T. Bistrizer, C. Kaplinsky

Pediatric Division, Assaf Harofeh Medical Center, Zerifin and Pediatric Hematology-Oncology Dept., Chaim Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University

Hemophagocytic syndrome is a rare, fulminant disease characterized by generalized histiocytic proliferation associated with phagocytosis of erythrocytes, platelets, and to a lesser extent, of white blood cells. We report a 2-year-old boy admitted with high fever and irritability, with a rash, marked hepatomegaly and generalized lymphadenopathy. Liver function tests were abnormal and there was thrombocytopenia and hyperlipidemia. Bone marrow aspiration revealed hemophagocytosis. Despite intensive treatment with steroids, intravenous immunoglobulin and cytotoxic drugs, he died within 10 weeks.