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.

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.

Cervical Ectopic Pregnancy

Eyal Sheiner, Ilana Yanai, David Yohai, Miriam Katz

Dept. of Obstetrics and Gynecology and Pathology Unit, Soroka Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

Cervical pregnancy is a rare but serious complication. The most frequent presenting symptom is vaginal bleeding, and is thus common in inevitable abortion. Examination reveals a dilated cervix containing products of conception derived from the emptied uterine cavity. The pathologic criteria are cervical glands opposite the placental site, attachment to and actual invasion of the cervix by the placenta, a portion of the placenta below the posterior reflection, and no fetal parts in the corpus uteri. Treatment ranges from hysterectomy to treatment with chemical agents, mostly methotrexate. We present a case of ectopic, cervical pregnancy with exaggerated placental site in the cervix.

Use of Unlicensed and Off-Label Drugs in Hospitalized Children

M. Lifshitz, V. Gavrilov, R. Gorodischer

Toxicology Unit, Pediatrics Dept. A, Soroka Medical Center, and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

Many drugs used in children are based on pharmacological data obtained in adults. Therefore, many drugs are either unlicensed for use in children or are prescribed outside the terms of the product license (off-label). This pilot study assessed use of unlicensed or off-label drugs in hospitalized children.

Drug orders of patients admitted to a general pediatric ward were reviewed retrospectively in a random sample. Assessment was based on the data of the Physicians' Desk Reference and the Israel Drug Compendium. 80 different drugs and 278 drug orders were written for 92 patients (0.5 months - 11 years old, mean 26.9 months) in 97 admissions. Of these 52.9% were either off-label or unlicensed. Patients received 1 or more unlicensed or off-label drugs in 64.9% of admissions. They were more often off-label than unlicensed. The main reasons for use of off-label drugs were unusual doses and inappropriate age. The main reason for unlicensed drugs was modification of a particular formulation of a licensed drug.

This pilot study indicates that use of drugs in an off-label or unlicensed manner in children is probably quite frequent in Israel. Our data emphasize the need for licensing a large number of drugs for use in children, based on the same scientific principles as in adults. Further collaborative studies in different pediatric centers in Israel, involving different types of pediatric settings (ambulatory and in-hospital), is required to evaluate comprehensively the magnitude of this preliminary finding.

Laser Treatment of Airway Obstruction in Infants and Children

Y. Efrati, S.M. Sarfaty, S. Kromholz, G. Eshel, M. Weinberg, I. Vinograd

Depts. of Pediatric Surgery, Otolaryngology, Anesthesia and Pediatric Intensive Care, Assaf Harofeh Medical Center, Zerifin (Affiliated with Sackler Faculty of Medicine, Tel Aviv University)

Airway obstruction during infancy and childhood requiring surgical ablation is rare, and surgical intervention poses a significant challenge. During recent decades, appropriate endoscopic instrumentation, together with advanced laser beam technology have provided new operative modalities for such patients.

From 1993 to 1995 we treated 40 infants and children, 26 males and 14 females, 13 days to 11 years old (mean 3.3 years) with Nd-YAG or CO² laser. Obstructing lesions included granulation tissue or polyps (16 cases), septa or webs (27), or benign tumors (4). 7 had more than a single lesion.

All were treated endoscopically under general anesthesia without any operative or postoperative deaths. Surgical intervention removed the obstruction and related symptoms in 34. In 6, laser treatment failed, necessitating additional surgical procedures. 3 had circumferential subglottic web. Operative complications included bleeding during removal of a hemangioma in 1 and recrudescence in another. Postoperative complications were transient respiratory failure and pneumonia in 6, all of which resolved with appropriate treatment.

This series proves that laser technology is feasible in the treatment of airway obstruction during infancy and childhood, and is safe and effective.

Physiological Aspects of Women in Combat

D. Libster, Y. Heled, Y. Shapiro, Y. Epstein

IDF Institute of Military Physiology and Heller Institute for Medical Research, Sheba Medical Center, Tel Hashomer

Since military service is physically demanding, soldiers must maintain high levels of physical fitness for optimal performance of their duties. Women are at a physiological disadvantage when competing against men: they have a smaller muscle mass, more body fat, lower red blood cell counts, lower hemoglobin levels and smaller cardiac outputs. Women are slower and weaker than men and more prone to exercise-induced skeletal injuries. Fewer women than men meet the standards of physically demanding jobs. Therefore integrating women into physically demanding military-oriented jobs requires redesigning or modifying the tasks (different pace, mechanical aids, teamwork). While physical training can increase the physical capacity of women, training cannot completely eliminate gender differences. Thus the data presented do not imply that women cannot be integrated into combat units, but highlight gender-related differences which might have an effect on the ability of women to compete equally with men at the same task.

Congenital Syphilis: Need for Adequate Antenatal Care

Mark Friedberg

Pediatrics B Dept., Soroka Medical Center, Beer Sheba

Congenital syphilis is well-known and treatable with penicillin. Diagnosis in the neonate and young child may be difficult and consequently morbidity and mortality can be high. Prevention in children is of utmost importance and can be achieved by proper antenatal care and adequate follow-up of pregnant women. This includes identification of pregnant women at risk for contracting syphilis. The case presented demonstrates this need.

Alpha-Amino Adipic Aciduria: a Rare Psycho-Motor Syndrome

Ben-Ami Sela, Tamar Massos, Dov Fogel, Joseph Zlotnik

Pathological Chemistry and Child Development Institutes, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University

A 3.5-year-old boy with developmental motor retardation, hypotonicity, and severe speech disturbance had alpha-amino adipic acid in his blood and very high levels in his urine. In only 20 cases has this catabolite of lysine and hydroxylysine been found in high concentrations in urine, due to enzymatic block.

The clinical features associated with alpha-amino adipic aciduria may include mental retardation, developmental and motor delay, learning difficulties, convulsions, speech problems and ataxia. 3 siblings had milder symptoms of psychomotor delay and intermediate degrees of alpha amino-adipic aciduria, suggesting that the described developmental deficits could be related to this metabolite or its derivatives.

Tension-Free Vaginal Tape Procedure for Female Stress Incontinence

David Gordon, Asnat Groutz, Joseph Lessing

Lis Maternity Hospital, Sourasky-Tel Aviv Medical Center

We evaluated the safety and efficacy of the tension-free vaginal tape procedure (TVT) in 20 consecutive women with urodynamically proven genuine stress incontinence. Mean operating time under spinal analgesia was 37.2‏13 minutes and 80% were discharged within 24 hours. There were 5 uncomplicated, intraoperative bladder perforations, but no defects in healing nor tape rejection. The objective cure rate was 95%, while the subjective rate was 100%. Although follow-up was short (9-16 months), the TVT method seems to be safe and effective for stress urinary incontinence.

Evaluation of Asthmatic Children Presenting at Emergency Rooms

Haim Bibi, Elena Shoychet, David Shoseyov, Michael Armoni, Emil Chai, Dorit Ater

Pediatric Pulmonary Clinic and Pediatric Dept., Barzilai Medical Center, Ashkelon; Pediatric Pulmonary Clinic, Bikur Cholim Hospital, Jerusalem; Emergency Room, Barzilai Medical Center, Ashkelon; and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

Bronchial asthma in the pediatric age group has become prevalent recently. Many children who suffer from asthma arrive at the emergency room (ER) with exacerbations which did not respond to medical treatment at home.

Between July and December 1997, 136 children 8 months to 14 years of age (61% below 3 years), were studied in our pediatric ER. Investigation included physical examination and pulse oximetry, which were used as guidelines for scoring the children on arrival and post-treatment. Spirometry was done in those who could cooperate. For each patient a detailed questionnaire about medical and sociodemographic factors was filled.

Primary pediatricians used mainly beta-agonist and corticosteroid inhalators, while pediatric pulmonologists used mainly inhaled steroids. There was no relationship between severity of attack on arrival at the ER, mode of treatment and speed of recovery in the ER. More children treated by a general pediatrician more were admitted to hospital. Low parental education and paternal smoking were risk factors for recurrent hospital admissions.

Our results indicate that parents must be educated to stop smoking, especially those with asthmatic children, and primary pediatricians should be updated with regard to proper treatment and follow-up of asthma.

Screening for Down's Syndrome by Measuring Fetal Nuchal Translucency Thickness

Ron Maymon, Eli Dreazen, Zwi Weinraub, Ian Bukovsky, Arie Herman

Ultrasound Unit, Dept. of Obstetrics and Gynecology, Assaf Harofeh Medical Center, Zerifin, and Sackler Faculty of Medicine, Tel Aviv University

Increased fetal muchal translucency (NT) thickness at 10-14 weeks of gestation may indicate underlying fetal chromosomal abnormalities, anatomical anomalies and genetic syndromes. Between January 1997 and May 1998, 1400 women 10-14 weeks pregnant underwent sonographic screening for detection of Down's syndrome (DS). Follow-up was complete in 1208 (86%).

Maternal age ranged from 17-44 years (mean 18.0). 87% were found by screening to have a higher risk (1:380) for DS diagnosed at birth. All these fetuses were karyotyped and 8 had chromosomal abnormalities. 2 fetuses with normal NT were diagnosed later as having DS, 1 by the mid-gestation triple test and 1 by amniocentesis because of advanced maternal age.

Thus sonographic screening identified 8 out of 10 fetuses found to have chromosomal abnormalities at birth. Neonates not karyotyped before birth had no traits at birth that justified chromosomal analysis. Results of this study suggest that NT measurement, combined with maternal age, is an effective 1st trimester screening method for DS in an unselected obstetric population.

One-Stage Surgery for Hirschsprung's Disease in Children

Mark Weinberg, Baruch Klin, Itzhak Vinograd

Dept. of Pediatric Surgery, Assaf Harofeh Medical Center, Zerifin, and Sackler School of Medicine, Tel Aviv University

Traditionally Hirschsprung's disease has been treated by 2-or 3-stage procedures. During the past 6 years a 1-stage Duhamel procedure without stoma has become our treatment of choice for Hirschsprung's disease in neonates and young infants. Over a 6-year period, 15 infants and children with colonic Hirschsprung's disease were treated with the 1-stage Duhamel retro-rectal pull-through procedure without a stoma, with the Lester-Martin modification. All patients had the usual short segment aganglionosis, but 1 had a long segment which included the splenic flexure.

Early complications included wound infection in 1 and minor rectal bleeding in 3. Late complications included constipation in 1 and enterocolitis in 4. Long-term functional results were very good in all those operated except for 1 with rectal achalasia.

We conclude that Hirschsprung's disease can be successfully treated with a 1-stage pull-through operation, the child usually benefitting from the shorter hospital stay and the avoidance of a colostomy.

Plication of Diaphragm for Postoperative, Phrenic Nerve Injury in Infants and Young Children

Yael Refaely, David A. Simansky, Michael Paley, Alon Yellin

Sheba Medical Center, Tel Hashomer, and Sackler Faculty of Medicine, Tel Aviv University

Paralysis of the diaphragm may cause life-threatening respiratory distress in infants and young children because of paradoxical motion of the affected diaphragm and contralateral shift of the mediastinum during expiration. Phrenic nerve injury (PNI) may follow chest operations.

10 children with diaphragmatic paralysis and severe respiratory distress underwent plication of the diaphragm. Ages ranged from 14 days to 5 years. 9 had PNI after operations for congenital heart disease and 1 after resection of an intraspinal cervical lipoma. The right side was affected in 7, the left in 3.

Indication for surgery was inability to wean from mechanical ventilation, which had ranged from 11 to 152 days (median 35). 8 underwent plication via a thoracic approach and 2 via an abdominal approach. There were no complications directly related to the operation.

The interval from plication to weaning from mechanical ventilation ranged from 2 to 140 days (median 4). 1 patient died 2 hours after plication due to severe heart failure and 2 after prolonged hospitalization due to sepsis and multi-organ failure. 6 were extubated 2-8 days (median 4) after plication and 1 only after 40 days.

Early diaphragmatic plication is simple and avoids more serious surgery. While effective in ventilator-dependent infants and young children, it should not be used in those with multi-organ failure. Early plication may prevent the complications of prolonged mechanical ventilation.

Burns in Children in Israel: Epidemiology, Prevention and Treatment

Arieh Eldad

Medical Corps, Israel Defense Forces and Burns Unit, Hadassah University Hospital, Ein Kerem, Jerusalem

45% of all hospitalized burn casualties in Israel are children younger than 16 years old. In various hospitals they make up 30-60% of all burn casualties, depending on the proportion of children in the area of hospital intake, social and economic factors and the type of hospital. Length of hospitalization of children is shorter than that of the general population (7.3 vs 9.0 days). Scalding is the main cause of thermal injuries among babies and infants (70%), while fire burns are the most common causes among adolescents (56.5%); 90% of babies are injured at home; only 40% of adolescents are burned in home accidents.

In Israel, burned children are treated in 25 different hospitals and in departments of pediatric surgery, plastic surgery, general surgery, pediatrics or burn departments. There is no pediatric burn unit in Israel.