1/93. Anaesthetic management of a patient with williams syndrome undergoing aortoplasty for supravalvular aortic stenosis. PURPOSE: A case of a patient associated with williams syndrome undergoing aortoplasty for supravalvular aortic stenosis is presented. CLINICAL FEATURES: williams syndrome is a rare disease associated with a characteristic facies, supravalvular aortic stenosis, and mental retardation. A 15-yr-old girl with williams syndrome underwent aortoplasty for supravalvular aortic stenosis. Anaesthesia was induced with fentanyl and thiamylal, and maintained with nitrous oxide, oxygen, sevoflurane, and continuous intravenous infusion of fentanyl. Supravalvular aortic stenosis was evaluated using a multiplane transesophageal echocardiography (TEE) probe before and after repair. CONCLUSION: Multiplane TEE was found to be very useful for anaesthetic management in a patient with williams syndrome undergoing aortoplasty for supravalvular aortic stenosis. ( info) |
2/93. growth hormone treatment in a child with Williams-Beuren syndrome: a case report. Growth retardation is a consistent finding in Williams-Beuren syndrome. The cause of short stature in this syndrome is unknown. Endocrine studies have failed to reveal abnormalities in the growth hormone-insulin-like growth factor i axis. We report a boy with confirmed Williams-Beuren syndrome, who was found to have classical growth hormone deficiency and responded well to growth hormone therapy. CONCLUSION: Although growth hormone deficiency is not likely to be a common cause of short stature in Williams-Beuren syndrome, we nevertheless recommend evaluation of the growth hormone-insulin-like growth factor i axis in all cases. ( info) |
3/93. Acute pure red cell aplasia associated with allopurinol therapy. Several investigators have reported patients with acute pure red cell aplasia (PRCA) caused by anticonvulsants, antibiotics, or antithyroid agents. allopurinol is known to be a causative agent of aplastic anemia, but there have been few reports of acute PRCA induced by allopurinol. We describe here a 15-year-old boy who suffered from anemia 6 weeks after initiation of allopurinol therapy; his anemia immediately improved after cessation of the drug. His bone marrow showed severe erythroid hypoplasia with a myeloid/erythroid ratio of 18.6 and low expression of glycophorin A detected on cell-surface antigen analysis. No morphological abnormalities were observed in myeloid series and megakaryocytes. The prolonged plasma iron disappearance rate and the decreased plasma iron turnover rate also indicated erythroid hypoplasia. He had been free from any infections, including parvovirus B19, before manifestation of PRCA. Taken together, these results suggest a diagnosis of acute PRCA. This side effect of allopurinol should be taken into consideration. ( info) |
4/93. Thyroid hemiagenesis and elevated thyrotropin levels in a child with williams syndrome. A girl with williams syndrome (WS) presented with elevated thyrotropin (TSH) levels (7.0 microU/ml), normal free thyroid hormone concentrations, and absent antithyroid autoantibodies. Thyroid ultrasonography and scintigraphy showed hemiagenesis of the left lobe and no evidence of ectopic tissue. TSH response to thyrotropin-releasing hormone (TRH) injection (200 microg/mq, i.v.) was exaggerated and prolonged, suggesting subclinical hypothyroidism. The biological activity of circulating TSH was slightly below the normal range [TSH bioactivity (B) to immunoreactivity (I) ratio (TSH B/I) = 0.4, normal: 0.6-2.2]. These abnormalities are similar to those seen in patients with hypothalamic hypothyroidism. Thyroid function is not a recognized manifestation of WS and is not routinely investigated. However, abnormalities of the hypothalamic-pituitary-thyroid (HPT) axis and thyroid dysgenesis have been found in other WS cases. Genes mapping at 7q11.23, contiguous to the chromosomal region deleted in most WS patients, may be involved in the development of the thyroid gland, contributing to the complex phenotype of WS. ( info) |
5/93. Visuo-spatial and linguistic abilities in a twin with williams syndrome. The present study reports a case of dizygotic twins, one boy with williams syndrome (WS) and one typically developing girl, and compares their neuropsychological profiles. The goal of the present authors was to verify whether the child with WS displayed a cognitive profile which is unique to the syndrome. Several tests designed to assess visuo-perceptual, visuo-motor, linguistic and memory abilities were administered to both children when they were 10.9 years old. Compared to his sister, the boy with WS displayed a homogeneous developmental delay in both non-verbal and verbal abilities. He achieved a level of performance similar to his sister only in facial recognition, phonological word fluency and memory for phonologically similar words. Furthermore, despite the overall delayed performance of the boy, both the twins displayed a cognitive profile characterized by strength in lexical comprehension and relative weakness in visuo-motor abilities. ( info) |
6/93. Concomitant reentrant tachycardias from concealed accessory atrioventricular bypass tract and atrioventricular nodal reentry in a patient with williams syndrome. williams syndrome is characterized by a constellation of features including mental retardation and supravalvular aortic stenosis. Other cardiovascular abnormalities including arrhythmias contributing to sudden death have been described in these patients. In this report we describe a case of a 49-year-old female with williams syndrome who presented with severe symptomatic supraventricular tachycardia. cardiac electrophysiology study identified a left posteroseptal concealed accessory bypass tract responsible for atrioventricular reentrant tachycardia and a concomitant typical atrioventricular nodal tachycardia. Such unusual association of combination of two different types of supraventricular tachycardia and williams syndrome has not been previously reported. Radiofrequency ablation was successfully performed to cure these arrhythmias. ( info) |
7/93. Difficulty in writing Japanese semantic characters in a 9-year-old boy with williams syndrome. A 9-year-old boy diagnosed as having williams syndrome was evaluated using psychological test batteries in order to clarify his ability in language and visual cognition. The subject had difficulty in writing some of the Japanese semantic characters (called Kanji) which he could otherwise read and understand. Although he could write the small components of which the Kanji characters were composed, he could not locate these correctly. This phenomenon is considered to be very similar to the difficulty in copying a figure observed clinically. The Kaufmann Assessment Batteries for Children clearly revealed that the boy had difficulty with the sub-test of spatial memory compared to his average score for simultaneous processing. This result is considered to be closely related to the difficulty in copying figures or writing Kanji characters. On the illinois Test of Psycholinguistic Abilities, the present authors found that the subject's vocabulary was relatively good, although semantic and pragmatic problems remained. Clarifying the strong and weak points of the abilities of such patients will help to determine the most appropriate mode of education for them. ( info) |
8/93. Supravalvular aortic stenosis, williams syndrome and sudden death. A case report. Supravalvular aortic stenosis (SVAS) is an uncommon but well characterized congenital narrowing of the ascending aorta above the level of the coronary arteries. It can be a familial disorder, can occur sporadically, or associated with williams syndrome (WS) which is a neurodevelopmental disorder affecting connective tissue and the central nervous system. Sudden death is a well-known complication of non-syndromic SVAS but few cases have been reported associated with WS. We present a case of sudden death in a woman with the diagnosis of SVAS and WS since the age of 3 years who refused surgical correction and died at the age of 27 years. At autopsy, the aorta and pulmonary trunk were narrowed and the walls showed peculiar microscopical characteristics. In the cardiac conduction system the His bundle was small and intramyocardial. The incidence, pathology, pathogenesis and prognosis of both conditions (SVAS and WS) are reviewed. ( info) |
9/93. De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and williams syndrome. Supravalvular aortic stenosis may present as an isolated finding or as part of williams syndrome. williams syndrome is a contiguous gene syndrome associated with neurodevelopmental and multisystemic manifestations caused by hemizygous deletion at 7q11.23. We report on the prenatal and histopathological findings in a patient with a chromosome translocation involving the williams syndrome critical region. The initial abnormality on fetal ultrasound was hydrops fetalis detected at 30 weeks and echocardiography showed narrowing of the aorta and the pulmonary arteries. The baby died shortly after delivery and an autopsy revealed diffuse tubular thickening with luminal narrowing of the aorta, aortic branches, and the pulmonary arteries. Histopathology showed dysplasia of the media with reduced elastic content and "cartwheel" arrangement of collagen, elastic, and muscle fascicles. The karyotype was 46,XX,t(6;7)(q27;q11.23). Three signals were detected using the Oncor fluorescent in situ hybridization probe for elastin-williams syndrome (WSCR) suggesting that the break in chromosome 7 is within the elastin-Williams gene. This patient is of special interest because of the prenatal presentation and the chromosomal translocation involving the elastin-williams syndrome locus. ( info) |
10/93. Chiari I malformation in asymptomatic young children with williams syndrome: clinical and MRI study. We report clinical and magnetic resonance imaging findings in two young children, aged 2 years 4 months and 3 years, with williams syndrome. Both showed a mild global delay, although their neurological examination was completely normal. Their magnetic resonance imaging, however, showed Chiari I malformation and some non-specific changes in the centrum semiovale and in the white matter posterior to the lateral ventricles. Cerebellar tonsils were displaced through the foramen magnum 8.5 and 7.5 mm respectively. Our results suggest that Chiari I malformation can also be a frequent feature in subjects with williams syndrome even in the absence of overt neurological signs suggestive of it. Whether these children might develop acute signs later is not known at present. Further studies are needed not only to evaluate the incidence of these findings in the global population of subjects with williams syndrome but also to identify the children who are at risk for developing acute neurological signs. ( info) |