Physicians' Reminders Promote Annual Fecal Occult Bloodtesting Compliance

Shlomo Vinker, Vardina Shumla, Eliezer Kitai

Family Medicine Dept., Sackler Faculty of Medicine, Tel Aviv University

Screening for the early detection of colorectal cancer using the fecal occult blood test has been shown to be effective in reducing mortality. In Israel family physicians recommend that their patients, aged 50-75, have the test performed annually. But compliance with testing in the general population has been poor.

We therefore studied this issue in 3 primary care facilities, in 384 patients, average age 62.7‏6.9 years; 81 (21.1%) performed the fecal occult blood test. Performance rates were significantly lower (13.9%) in those aged 50-59 (p = 0.0003), as compared wh those aged 60-69 and 70-75 (24.3% and 24.7%, respectively). Compliance rates of the patients of different physicians varied as well.

Recommendation of family physicians led to overall compliance of 21.1%. Additional efforts are needed to increase compliance in order to decrease colorectal cancer morbidity and mortality in Israel.

Familial Parinaud Oculo-Glandular Syndrome in Cat-Scratch Disease 

Nir Shoham, Dan Miron, Raul Raz, Hanna J. Garzozi

Depts. of Ophthalmology and Pediatrics A, and Infectious Diseases Unit, HaEmek Medical Center, Afula

Cat-scratch disease is manifested by subacute, regional lymphadenitis and occurs mainly in children. The causative agent is a pleomorphic, gram-negative bacillus, Bartonella henselae carried by asymptomatic cats. Parinaud oculoglandular syndrome is the most common ocular manifestation of this disease. It is characterized by unilateral conjunctivitis with polypoid granuloma, usually of the palpebral conjunctiva, and preauricular lymphadenopathy. The diagnosis is supported by a history of exposure to cats and is confirmed by positive serologic tests or positive PCR assay.

The occurrence of more than 1 case of Parinaud syndrome in a family is rare. We describe 2 sisters with Parinaud oculoglandular syndrome, proven by serologic tests. They reported that they used to cuddle with their cats, among them a kitten. Because of the refractory conjunctivitis and signs of imminent periorbital cellulitis, they were treated with oral tetracycline with apparently good responses.

We recommend asking about contacts with cats in any atypical conjunctivitis accompanied by regional lymphaden-opathy, especially in young patients. Systemic antibiotics should be given when there is any suspicion of significant ocular involvement, if the patient is immunosuppressed, or if there are systemic manifestations of cat-scratch disease.

Prader-Willi Syndrome: Medical, Emotional and Cognitive Facets

Varda Gross-Tsur, Yael E. Landau

Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem

Prader-Willi syndrome, first described in 1956, is characterized by marked hypotonia, hyperphagia, severe obesity, short stature, hypogonadism, orthopedic problems, breathing- related sleep disorders, mild to moderate mental retardation and behavioral abnormalities. The incidence of this syndrome, an expression of a genetic imprinting error in chromosome 15, is 1:10,000-1:25,000.

We describe the medical, emotional and cognitive parameters of 34 patients in our multidisciplinary clinic for Prader-Willi syndrome. Their ages range from 5 months to 40 years and 20 are males. Excessive weight gain started at the age of 6 years, increasing to 170-370% of that predicted by height and age and short stature started after the age of 12. All males have hypogonadism; 6 patients have scoliosis. Breathing-related sleep disorders have occurred in 15.

Children above the age of 8 years underwent neuropsychological assessment: half (9/18) have borderline intelligence while a quarter have low-normal intelligence and the remainder mild to moderate mental retardation. Behavioral and social problems are common, and become more prominent during adolescence. ADHD was diagnosed in 10/18.

Carbamazepine Hypersensitivity 

Shimon Ivry, Doobi Shteinmintz, Hava Tabenkin

Dept. of Family Medicine, HaEmek Hospital, Afula and National Residency Institute, Ben-Gurion University of the Negev, Beer Sheba

Carbamazepine (C) can cause a characteristic hypersensitivity reaction (CHS}. This multisystem reaction typically presents as fever, mucocutaneous eruption and lymphadenopathy. The syndrome usually develops between 1 week and 3 months after starting therapy, with involvement of the liver, lung, kidney and inappropriate secretion of ADH. The incidence is less than 0.001% in those treated with C and it is diagnosed clinically. With onset of CHS, the drug must be stopped and if there is no improvement, cortico-steroids should be started. When the diagnosis is in doubt, the patch test, lymphocyte transformation test, macrophage migration inhibitor factor, and other tests can be helpful.

The pathogenesis is not known. Similar syndromes have been described with phenytoin and phenobarbital. There is clinical and in-vitro evidence of cross reactions between C and phenytoin. It is not known whether the CHS syndrome should be considered a premalignant state, with increased risk for the development of malignant lymphoma.

Tubulo-Interstitial Nephritis and Uveitis - TINU Syndrome

Paz Yitzhaki

Dept. of Medicine A, Rambam Medical Center, Haifa

Acute tubulo-interstitial nephritis and uveitis (TINU syndrome) in a 53-year-old woman is reported. This rare syndrome was described 27 years ago by Dobrin et al. Since then about 50 cases have been described. The syndrome can appear at any age but most patients are under 20 years; about 75% are females. Clinical characteristics include fatigue, general malaise, weight loss, fever, night sweats, anorexia, nausea and vomiting, pallor, nocturia, polyuria, arthralgia and skin rash. Ocular involvement usually includes anterior uveitis but is sometimes posterior; in most cases the uveitis is bilateral.

The characteristic laboratory findings are anemia, rapid sedimentation rate, decreased glomerular filtration rate with increased serum creatinine and urea. Total protein is increased because of polyclonal gammopathy and elevated b2-microglobulin. Urinalysis characteristically reveals proteinuria and b2-microglobulinuria. The histopathologic features on renal biopsy are characteristic of tubulo-interstitial nephritis. Uveitis can precede, accompany or follow onset of the nephropathy.

The pathogenesis and etiology of the syndrome are as yet unknown. Treatment consists of large doses of corticosteroids, but the necessity for treatment is unclear, since there is evidence of spontaneous improvement. Although the prognosis of the nephropathy is favorable and most cases are reversible, the uveitis tends to recur.

Pulmonary Involvement in Osler- Weber-Rendu Syndrome 

Efrat Bron-Harlev, Benjamin Zeevi, Ben-Zion Garty

Dept. of Medicine B and Cardiac Catheterization Unit, Schneider Children's Medical Center, Petah Tikva

Hereditary hemorrhagic telangiectasia (Osler-Weber-Ren-du syndrome) is a group of autosomal dominant diseases with variable penetration, characterized by vascular malformations. Recently hereditary hemorrhagic telangiectasia has been found to be a phenotypic expression of mutations in genes located on chromosomes 9 and 12, and possibly of other genes located on other chromosomes.

We describe 2 patients with hereditary hemorrhagic telangiectasia and pulmonary involvement who presented with repeated complaints of dyspnea and cyanosis and were diagnosed as having long-standing asthma. Both were treated with therapeutic catheterization and embolization with good clinical outcomes.

Nocturnal Eating Disorder - Sleep or Eating Disorder?

Orna Tzischinski, Yael Lazer

Sleep Laboratory, Faculty of Medicine and Israel Institute of Technology; and Eating Disorders Clinic, Psychiatric Division, Rambam Medical Center, Haifa

Nocturnal eating disorder (NED) is a rare syndrome that includes disorders of both eating and sleeping. It is characterized by awakening in the middle of the night, getting out of bed, and consuming large quantities of food quickly and uncontrollably, then returning to sleep. This may occur several times during the night. Some patients are fully conscious during their nocturnal eating, while some indicate total amnesia. The etiology of NED is still unclear, as research findings are contradictory.

Those suffering from NED exhibit various levels of anxiety and depression, and many lead stressful life-styles. Familial conflict, loneliness and personal crises are commonly found. Recently, a connection has been discovered between NED and unclear self-definition, faulty interpersonal communication, and low frustration threshold. Several authors link it to sleepwalking, leg movements during sleep, and sleep apnea. Treatment is still unclear and there have been trials of pharmacotherapy, psychotherapy, or a combination of both. However, pharmacological treatment has generally been found to be the most effective, although each case must be considered individually.

In 1998, 7 women referred to our Eating Disorders Clinic, 5% of all referrals, were subsequently diagnosed as suffering from NED. Of these, 3 suffered from concurrent binge-eating disorder and 4 also from bulimia nervosa. 2 case studies representative of NED are presented.

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.

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.

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.

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.

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.

Elastofibroma, a Rare Cause of Snapping Scapula Syndrome

Ilan Cohen, Yehuda Kolender, Josephine Isakov, Aaron Chechick, Yitzhak Meller

Dept. of Orthopedic Surgery, Sheba Medical Center, Tel Hashomer and Depts. of Orthopedic Oncology and Pathology, Sourasky Medical Center, Tel Aviv

Scapular pain is a common complaint in daily orthopedic practice. A different type of scapular discomfort, the snapping scapula syndrome that occurs when smooth gliding motion of the scapula upon the chest wall is interfered with is much less common.

We studied the syndrome of periscapular pain and discomfort, and present a rare etiology: elastofibroma dorsi, a unique, benign, soft tissue-tumor with unique characteristics.

Elastofibroma appears deep to the lower scapular pole, is often bilateral, and consists of a mixture of collagen, elastic fibers and fibroblasts. We present 6 cases, in 3 men and 3 women aged 51-65.

Irritable Bowel Syndrome: Biofeedback Treatment

N. Barak, R. Ishai, E. Lev-Ran

Biofeedback Unit, Psychiatric Ward, Sheba Medical Center, Tel Hashomer

Irritable bowel syndrome is a group of heterogenic complaints of functional bowel disorder in the absence of organic pathology. The pathophysiology is unclear. In most cases treatment includes symptomatic remedies, antidepressants, psychotherapy and hypnotherapy.

Biofeedback has recently been introduced as a therapeutic modality. Treatment also includes relaxation techniques and guided imagery, together with computer-assisted monitoring of sympathetic arousal. Biofeedback requires active participation of patients in their healing progress and leads to symptom reduction in 2/3.

EBV-Related Post-Transplantation Lymphoproliferative Disorder

D. Doron, O. Papo, O. Portnoy, E. Granot

Depts. of Pediatrics, Pathology, and Radiology, Hadassah University Hospital, Jerusalem

We describe a 4.5-year-old girl in whom post transplantation lymphoproliferative disorder was diagnosed 1 year after liver transplantation. She ran a complicated course with multiple organ involvement: respiratory failure which required mechanical ventilation, renal failure, bone marrow depression and severe protein-losing enteropathy.