תוצאת חיפוש

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.

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.

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.

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.

When are Menopausal Symptoms Psychiatric?

Helen Shoenfeld

Talbia Mental Health Center, Jerusalem

Nervousness, sleep disorders, mood instability and sexual dysfunction are frequent symptoms during menopause. It is commonly believed that they are due to the characteristic menopausal hormonal changes. However, they also commonly occur in psychiatric disorders unrelated to the menopause. The literature deals with the characteristic psychological aspects and studies have examined the ways in which menopausal phenomena are related to the hormonal background and its effect on the brain.

The clinical menopausal picture may be complicated by secondary psychiatric disease. Also, menopausal symptoms and symptoms of previous psychiatric disease may coexist. In addition, menopause may precipitate psychiatric disorders in women predisposed to them.

Accumulated personal myths and expectations related to the menopause are likely to affect the way in which a woman copes with it. Important factors in this connection include education, culture and certain life events. In all such cases precise evaluation of the etiology, with its intermingled gynecological and psychiatric factors is required. Such women should be treated by both a gynecologist and a psychiatrist.

We present 5 cases, 4 of which were sent to the menopause clinic and were then referred for psychiatric evaluation and treatment. The other case presented at a psychiatric clinic due to a first acute psychostate. Laboratory tests showed typical changes of menopause.
 

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.

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.

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.

Trichobezoars

M. Barzilai, N. Peled, M. Soudack, L. Siplovich

Carmel and Rambam Medical Centers, Haifa and Afula Medical Center 

Trichobezoars are accumulations of hair casts in the stomach associated with trichophagia. The typical patient is an adolescent female who presents with alopecia and an upper abdominal mass which on moving can cause intermittent gastric outlet obstruction. Only a minority of patients have severe psychiatric disorders. When hair strands extend from the main mass in the stomach, all along the small bowel and reaching the cecum, the condition is termed the Rapunzel syndrome. In about 5% of patients there are separate hair masses in the stomach. The clinical presentation includes abdominal pain, loss of appetite, weight-loss, vomiting, loose stools, pancreatitis, jaundice, anemia and hypoalbuminemia. These signs and symptoms raise the suspicion of malignancy. Complications of bezoars include ulcers, perforation of the bowel, obstruction and intussusception. Diagnosis can be established either by barium swallow or by CT scan. Ultrasound might suggest the diagnosis, but sonographic features are definitely not pathognomonic. Treatment is surgical, as endoscopic removal is usually unsuccessful. We present 2 children in whom trichobezoars were found.

Acute Gastroenteritis caused by Enterohemorrhagic E. Coli O157:H7

Tuvia Weinberger, Tony Hayek, Shlomo Keidar

Dept. of Medicine E, Rambam Medical Center, and Dept. of Family Care, Haifa and West Galilee, and Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa

We report a 48-year-old man admitted for watery diarrhea, high fever, chills and abdominal cramps. Entero-hemorrhagic E. coli O157:H7 was isolated. This new, dangerous pathogen causes dysentery and complications such as hemolytic uremic syndrome and thrombotic thrombo-cytopenic purpura. These complications can cause renal failure, neurological deficit and death. Recognition of E. coli O157:H7 infection is important since it causes a rare and dangerous condition. To the best of our knowledge this is the first case reported in Israel.

Abdominal Compartment Syndrome

D. Rosin, M. Ben Haim, A. Yudich, A. Ayalon

Dept. of General Surgery and Transplantation, Chaim Sheba Medical Center, Tel Hashomer and SacSchool of Medicine, Tel Aviv University

Abdominal compartment syndrome refers to a complex of negative effects of intra-abdominal hypertension. Its most common cause is complicated abdominal trauma. The syndrome includes mainly hemodynamic and respiratory manifestations but may involve other systems as well. It may present as a life-threatening emergency in the multi-trauma patient. Awareness of the syndrome may enable the surgeon to take preventive measures or to diagnose it earlier and to treat it effectively. We describe a 21-year old man who developed this syndrome after multiple gunshot wounds, with severe liver injury. After 2 operations the typical manifestations of the syndrome were diagnosed. He was re-operated to release intra-abdominal hypertension and then slowly recovered.

Orthostatic Hypotension as a Manifestation of Malignant Lymphoproliferative Disease

H. Semo, A. Adunsky, E. Grossman

Depts. of Geriatric Medicine and of Medicine D, Chaim Sheba Medical Center, Tel Hashomer

An 85-year-old man was admitted with 6-month history of incapacitating orthostatic hypotension. Investigation led to the discovery of sympathetic dysautonomia, sensorimotneuropathy and malignant lymphoproliferative disease. Several attempts to treat the orhypotension or the neoplastic disease failed to improve his condition. Orthostatic hypotension precipitated by sympathetic dysautonomia may be an infrequent effect of early malignant lymphoproliferative disease.

Gradenigo Syndrome and Cavernous Sinus Thrombosis, in Fusobacterial Acute Otitis Media

S. Hananya, Y. Horowitz

Pediatrics Dept., Central Hospital of the Emek, Afula

In this era of antimicrobial medication, intracranial complications following otitis media are rare. We present a 5-year-old boy who suffered from petrositis (Gradenigo syndrome) and cavernous sinus thrombosis as combined complications of acute otitis media caused by fusobacteria. The diagnosis was made using imaging methods suited to the various structures of the skull. Cure was achieved by prolonged conservative treatment with antibiotics, with gallium scan for evaluation of the bone inflammation.

Toxic Shock Syndrome

Gadi Fishman, Dov Ophir

ENT and Head Neck Surgery Dept., Meir Hospital, Kfar Saba

Toxic shock syndrome (TSS) is a rare, life-threatening, acute multisystem illness usually characterized by sudden onset of high fever, diffuse sunburn-like erythroderma and a variety of other signs and symptoms. It may progress rapidly to hypotension and shock with multiple organ failure. Its exact cause is unknown, but in almost all cases there has been an infection with exotoxin-producing strains of phage group I Staphylococcus aureus. Although initially described in association with the use of super-absorbent tampons in menstruation, TSS has complicated a variety of surgical procedures. Recently in head and neck surgery attention has focused on absorbent packing materials, such as those used in postoperative nasal care.

TSS developed in a 12-year-old 28 hours after tonsillectomy, nasal septoplasty and inferior turbinectomy in which absorbent packing material was used. It is important to maintain a high index of suspicion for TSS in all postoperative patients with fever, hypotension and erythroderma.