תוצאת חיפוש

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.

Superficial Skin Necrosis in Short Bowel Syndrome

Arie Eisenman, Rafael Enat

Dept. of Medicine B, Rambam Medical Center and Rappaport Faculty of Medicine, The Technion, Haifa

Short bowel syndrome causes a complex of symptoms due to compromise of small intestinal nutrient absorption. A 60-year-old woman underwent major resection of the small intestine due to a road accident 3 years ago. The sole manifestation of short-bowel-syndrome was superficial skin necrosis due to vitamin K deficiency. She was asymptomatic for a long time, until treatment with antibiotics further intensified initially subclinical malabsorption.

It is not clear why there had been no other symptoms and why the main impact was on the fibrinolytic system rather than the coagulation system, as is usually the case. It is recommended that patients after major resection of the small intestine be closely monitored for coagulation function if an oral antibiotic is prescribed.

Polyneuropathy in Critical Illness

M. Mouallem, A. Adunsky, H. Semo, M. Dolgopiat

Depts. of Medicine E, Geriatrics, and Neurological Rehabilitation, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University

Critical illness polyneuropathy developed in 8 patients aged 22-84 years in our intensive care units. This acute polyneuropathy, predominantly axonal and motor, develops in the setting of the systemic inflammatory response syndrome and multi-organ failure. It is found in about 50% of patients treated in intensive care units for more than 2 weeks. In those who survive, neurological and functional recovery is the rule.

Attentional Characteristics of Developmental Right Hemi-Sphere Syndrome

Yael E. Landau, Varda Gross-Tsur

Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem

Developmental right hemisphere syndrome (DRHS) is characterized by emotional and interpersonal difficulties, attention deficit hyperactivity disorder (ADHD), visuo-spatial handicaps, subtle left body neurologic signs and failure in nonverbal academic domains, especially arithmetic. Concurrence of ADHD and DRHS is not surprising because research has implicated dysfunction of the right hemisphere in both syndromes. Furthermore, the right hemisphere has more brain areas devoted to attentional processing, making it more important and more vulnerable in attentional problems.

We describe the clinical parameters of DRHS as exemplified by 2 cases, a boy and a girl, both 13 years old. They participated in a study group in which attention and speed of performance were assessed in children with DRHS and were compared to children with ADHD and to a control group. A tendency to overfocusing, difficulty in inhibition, perseverative behaviors, stereotypy, and slowness and absence of hyperactivity characterized the DRHS group. These behaviors led us to hypothesize that the attentional symptoms in DRHS define a specific subgroup of ADHD which requires a different therapeutic approach.

D-Lactic Acidosis in Short Bowel Syndrome

Ben-Ami Sela, Joseph Zlotnik, Tamar Masos, Joseph Danieli, Sarah Mazia-Beni, Anita Jonas

Institute of Chemical Pathology and Pediatric Intensive Care and Gastroenterology Units, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University

A boy of 20 months and a girl of 27 months who had previously undergone massive bowel resection due to congenital intestinal obstruction are described. During grad-ual reduction of total parenteral nutrition and initiation of oral feeding, both developed severe, acute metabolic acidosis, accompanied by encephalopathy and ataxia. After the laboratory identification of massive amounts of the d-Disomer of lactic acid in urine and blood, both were successfully treated with IV bicarbonate, and metronidazole to suppress the overgrowth of colonic lactobacilli responsible for the metabolic crisis.

The Wandering Spleen

A. Ravid, D. Lev, V. Makarin, Y. Klausner, M. Umansky Y. Kluger

Surgery B and C Depts., Sourasky Medical Center, and Sackler Faculty of Medicine, Tel Aviv University

We describe a 26-year-old woman with thrombocytopenia discovered during gestation. On admission for evaluation of abdominal pain, torsion of an ectopic spleen was found. The spleen was removed and the thrombocytopenia resolved.

Muir-Torre Syndrome: Importance of Clinical Diagnosis and Genetic Investigation

Hana Strul, Paul Rozen, Tova Naiman, Ruth Shomrat

Gastroenterology Dept. and Genetics Institute, Tel Aviv Medical Center and Tel Aviv University

Muir-Torre syndrome is a relatively rare cutaneous manifestation of hereditary nonpolypous colorectal cancer (HNPCC). This autosomal dominant syndrome is characterized by a combination of sebaceous gland and malignant visceral tumors. The common sites of internal malignancies are the gastrointestinal tract and urinary system. It appears in early adult life and its clinical course is relatively slow.

In some families genetic diagnosis can identify asymptomatic carriers of the mutation. All first-degree relatives, especially mutation carriers, should be referred from the age of 20 years for routine follow-up and early treatment, as it has been proven to decrease morbidity and mortality.

We present a 51-year-old man with Muir-Torre syndrome diagnosed by the presence of multiple adenomas of sebaceous glands, colonic adenoma and adenocarcinoma of the duodenum. The family history was typical for HNPCC. A mutation in the hMSH2 gene on chromosome 2p was found in the patient and in several asymptomatic family members. The aim of this report is to increase awareness of this syndrome and emphasize the importance of referring patients and their families for clinical and genetic counseling and diagnosis.

Ramsay Hunt Syndrome

Doron Aframian, R. Ben-Oliel, Yair Sharav

Depts. of Oral Diagnosis, Medicine and Radiology, Hebrew University- Hadassah School of Dental Medicine, Jerusalem

Ramsay Hunt syndrome is caused by infection of the geniculate ganglion of the seventh cranial nerve by varicella- zoster virus. A case in an 82-year-old woman is described. She presented with oral lesions, right facial palsy and an eruption and pain in her right ear. Oral examination revealed small circumscribed erosions on the right anterior two-thirds of the tongue, with loss of taste. There were also lesions on her right palate. Early diagnosis and treatment are important as immediate treatment is more likely to prevent irreversible complications affecting the facial and other cranial nerves involved.

Use of Abciximab (Reopro) in the Catheterization Laboratory and in Unstable Coronary Syndromes

Shmuel Banai, Andre Keren, Nataly Daniel, Jesaia Benhorin

Heiden Dept. of Cardiology, Bikur Cholim Hospital, Jerusalem

Blockage of platelet glycoprotein IIb/IIIa receptor by Reopro c7E3 Fab-abciximab) has been shown to reduce markedly ischemic complications during and following elective and high-risk coronary intervention CI). Between July ’96 and February ’98, 120 consecutive patients (85 men and 34 women, aged 34-90 - mean 62) received Reopro (20 mg bolus, followed by 10 mg/min for 12-48 hours). 100 were treated with Reopro in the catheterization laboratory, in 76 as prophylactic treatment preceding high-risk CI and in 24 as bailout treatment for acute complications during CI. 20 additional patients were treated in the CCU for acute coronary syndromes, 17 of whom underwent CI 6-48 hours later.

Coronary angiography demonstrated multivessel disease in 66 (56%), and the target lesions were LAD - 77, RCA - 41, LCX - 22, SVG - 6, and 2 unprotected LMCA (total: 148 lesions dilated in 117 patients). Of the 117 CI, 44 were PTCA alone, and 73 included stenting.

Indications for prophylactic Reopro for high risk CI were: acute MI (48 hours), early post-MI angina, unstable AP, and/or complex anatomy with visible thrombus. In this high-risk population the overall success rate (open artery, no MI, discharged alive, no need for urgent re-vascularization) was 97% when Reopro was given prophylactically prior to CI. The success rate was lower (87.5%) when Reopro was given in bailout situations.

In 20 patients with acute coronary syndromes treated in the CCU while receiving maximal combined conventional therapy (including full-dose heparin), all symptoms and dynamic ischemic ECG changes disappeared within minutes following Reopro. 17 underwent successful CI during hospitalization and 3 were treated medically.

Reopro given prior to high risk CI was associated with a very low rate of complications. In a few cases with acute coronary syndromes, Reopro given in the CCU cases immediate relief of myocardial ischemia and reduced the need for urgent coronary intervention.

Iatrogenic Gallstone Ileus: A New Complication of Bouveret's Syndrome

Miguel Iuchtman, Amos Sternberg, Ricardo Alfici, Ehud Sternberg, Tzvi Fireman

Depts. of Surgery and Gastroenterology, Hillel Yaffe Medical Center, Hadera, and Rappaport Medical School, Haifa

Bouveret's syndrome involves gastric outlet obstruction caused by a gallstone in the duodenum. This type of gallstone ileus can be diagnosed and treated endoscopically. Endoscopic stone removal is especially indicated in poor risk patients. A dislodged impacted stone can migrate distally and cause small bowel mechanical obstruction. We report a 51-year-old woman who underwent endoscopic duodenal stone manipulation which resulted in small bowel obstruction.

Serotonin Re-Uptake Inhibitors as Primary Therapy for Carotid Sinus Hypersensitivity

Amos Katz, Angel Kantor, Alexander Battler

Cardiology Dept., Soroka Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

Carotid sinus syndrome is a well-recognized cause of unexplained syncope in older patients, and may lead to significant morbidity due to trauma from falls. Dual chamber pacing has been shown to be effective in relieving symptoms due to bradycardia, but not due to vasodepressor response. We report an 84-year-old man with recurrent syncope due to carotid sinus hypersensitivity. He was treated only with a serotonin re-uptake inhibitor and was symptom-free after 3 weeks of therapy. He has remained symptom-free for the past year.

Bowel-Lengthening in a Newborn with Short Bowel Syndrome

Schmuel Katz, Ilan Erez, Ita Litmanovitz, Ludwig Lazar, Arie Raz, Zipora Dolfin

Depts. of Pediatric Surgery, Neonatology and Pediatrics; Meir Hospital, Kfar Saba

Advances in parenteral nutrition and supportive therapy have led to improvement in survival of babies with short-bowel syndrome. Those whose intestinal mass is very unlikely to be adequate should have surgical therapy as soon as possible, before they develop the complications of long-term parenteral nutrition or significant enteritis.

We present a newborn with short-bowel syndrome due to prenatal midgut volvulus. At operation the remaining viable jejunum, 15 cm long, was anastomosed to the cecum. All feeding attempts failed, and the infant suffered from malabsorption. Calories and proteins had to be supplied by intravenous total parenteral nutrition.

At 3 months of age there was significant widening of the remaining bowel and Bianchi's bowel-lengthening procedure was performed. The postoperative course was uneventful and there was gradual improvement in intestinal absorptive capacity. The patient was weaned from parenteral nutrition at 3 years of age. Now, 2 years later, she eats a normal diet.