1/434. Partial lipodystrophy presenting with myopathy.A girl with partial lipodystrophy is described presenting with muscle weakness and developmental delay several years before lipoatrophy became apparent. The patient subsequently developed epilepsy, fatty liver, secondary amenorrhoea, hirsutism, insulin-resistant diabetes mellitus, hyperlipidaemia, and hypothyroidism. She remains weak with poor exercise tolerance. This case illustrates an atypical presentation of the Barraquer-Simon syndrome.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
2/434. Vaginal atresia and bardet-biedl syndrome association: a component or a distinct entity?bardet-biedl syndrome is an autosomal recessive disorder. It is characterized by cardinal anomalies including retinal dystrophy, digital malformations, mental retardation, obesity, and hypogonadism. Recently, renal anomalies also are mentioned among the cardinal signs. Although association of genital anomalies among affected boys are well known, the association of vaginal atresia and other structural genital anomalies are not mentioned among the less-common manifestations of bardet-biedl syndrome in girls. Two girls with bardet-biedl syndrome presented with hematometrocolpos in the preadolescent period and vaginal atresia was diagnosed. After surgical treatment and extended hospitalization, uncontrolled sepsis resulted in progressive renal failure and death of both patients. Vaginal atresia is often delayed or missed in the early childhood period. In girls with bardet-biedl syndrome, vaginal atresia or other structural genital anomalies should be evaluated more systematically during the initial diagnosis of the syndrome. In infancy, the evaluation of a child with vaginal atresia also should include the differential diagnosis of bardet-biedl syndrome. Vaginal atresia may either form a component of the syndrome, or girls who present with vaginal atresia in addition to other components of bardet-biedl syndrome might form a distinct entity.- - - - - - - - - - ranking = 0.2keywords = dystrophy (Clic here for more details about this article) |
3/434. A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy.Rud syndrome formerly was considered as a genetically heterogeneous but distinct clinical entity with the manifestations of ichtyosis, hypogonadism, small stature, mental retardation, epilepsy and, infrequently, retinitis pigmentosa. The existence of such a syndrome has recently been dismissed based on a new understanding of the ichthyoses. We report on the clinical history of a 14-year-old boy with congenital ichthyosis, small stature, hypogonadism, facial dysmorphism, nystagmus, kypho-scoliosis and myogenic dystrophy. He was diagnosed as Rud syndrome but developed neither seizures nor mental retardation. However a cousin was mentally retarded. The ichthyosis was familial as five relatives had ichthyosis but no other features of Rud syndrome. The patient had a deletion of the steroid-sulfatase gene. He had neither chondrodysplasia punctata, nor kallmann syndrome, two conditions which are part of the contiguous gene syndrome of the Xp22.3 region. Most case reports previously reported as Rud syndrome can now be reassigned under a contemporary ichthyosis classification that does not include Rud syndrome as a distinct entity. This case was clearly distinct from refsum disease, sjogren-larsson syndrome and any of the other ichthyosis disorders that have been suggested as a replacement for Rud syndrome. Thus the case reported here appears distinct from any previously described, currently recognized syndrome.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
4/434. Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases.We report neuropathological, biochemical and molecular studies on two patients with childhood ataxia with diffuse central nervous system hypomyelination (CACH) syndrome, a leukodystrophy recently defined according to clinical and radiological criteria. Both had severe cavitating orthochromatic leukodystrophy without atrophy, predominating in hemispheric white matter, whereas U-fibers, internal capsule, corpus callosum, anterior commissure and cerebellar white matter were relatively spared. The severity of white matter lesions contrasted with the rarity of myelin breakdown products and astroglial and microglial reactions. In the white matter, there was an increase in a homogeneous cell population with the morphological features of oligodendrocytes, in many instances presenting an abundant cytoplasm like myelination glia. These cells were negative for glial fibrillary acidic protein and antibodies PGM1 and MIB1. Some were positive for myelin basic protein, proteolipid protein (PLP), and myelin oligodendrocyte glycoprotein, but the majority were positive for human 2'-3' cyclic nucleotide 3' phosphodiesterase and all were positive for carbonic anhydrase ii, confirming that they are oligodendrocytes. Myelin protein and lipid content were reduced. The PLP gene, analyzed in one case, was not mutated or duplicated. The increased number of oligodendrocytes without mitotic activity suggests an intrinsic oligodendroglial defect or an abnormal interaction with axons or other glial cells. This neuropathological study supports the notion that CACH syndrome constitutes a specific entity.- - - - - - - - - - ranking = 0.4keywords = dystrophy (Clic here for more details about this article) |
5/434. Juvenile neuroaxonal dystrophy: clinical, electrophysiological, and neuropathological features.We describe 2 brothers with progressive myoclonus epilepsy that began in the second decade and was associated with cerebellar ataxia and intellectual deterioration. Electroencephalographic and cerebral evoked potential studies showed findings associated with myoclonus epilepsy. Neuropathological examination of 1 of the brothers, who died at age 23 years, revealed widespread changes of neuroaxonal dystrophy without pigment deposition in the basal ganglia. We propose the term juvenile neuroaxonal dystrophy (JNAD) to distinguish this condition on clinical grounds from infantile neuroaxonal dystrophy on the one hand, and on clinical and pathological grounds from Hallervorden-Spatz disease on the other hand. JNAD, while exceedinly rare, must be considered in the differential diagnosis of the progressive myoclonus epilepsies.- - - - - - - - - - ranking = 1.4keywords = dystrophy (Clic here for more details about this article) |
6/434. The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two cases.Two children are described with the combination of aplasia cutis congenita (ACC) and transverse limb defects known as Adams-Oliver syndrome. Whereas in the first child the typical features of ACC, syndactyly and transverse nail dystrophy were only mildly expressed and associated defects of the central nervous system and cardiac malformations were absent, the second child suffered from a very severe expression of the syndrome, with a combination of ACC, syndactyly, cutis marmorata telangiectatica congenita and multiple cardiac and central nervous system malformations which resulted in fatal central respiratory insufficiency.- - - - - - - - - - ranking = 0.2keywords = dystrophy (Clic here for more details about this article) |
7/434. Cone and rod dysfunction in the NARP syndrome.AIMS: Description of the ophthalmic manifestations of the NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome that is associated with a point mutation in position 8993 of the mitochondrial dna (mtDNA). methods: A mother and her two children, all carrying the 8993 mtDNA mutation, were examined. Two had manifestations of the NARP syndrome. A complete ocular and systemic examination was performed on all three patients. RESULTS: The clinical examination, electroretinogram, and visual fields revealed a typical cone-rod dystrophy in the son, and a typical cone dystrophy in the daughter. The mother had no ocular manifestations of the disease. CONCLUSIONS: NARP is a recently described, maternally inherited mitochondrial syndrome in which a retinal dystrophy, among other abnormalities, is related to a mutation of the mtDNA at nucleotide 8993. This study demonstrates the great variability of the ocular manifestations in the NARP syndrome. It also indicates that the retinal dystrophy in at least some NARP patients affects primarily the cones.- - - - - - - - - - ranking = 0.8keywords = dystrophy (Clic here for more details about this article) |
8/434. Rigid spine syndrome. Two case-reports.Rigid spine syndrome is characterized by massive spinal rigidity, usually most marked in the cervical region. Stiffness of the peripheral joints is sometimes present. We report two cases. Patient 1 was a 12-year-old boy diagnosed at three years of age with Duchenne's muscular dystrophy because of delayed onset of walking. contracture of the Achilles tendons, flexion contracture of the elbows, and loss of motion of the cervical spine were the main findings during the current evaluation. Radiographs of the affected joints were normal. An electrocardiogram showed an incomplete left bundle branch block. Muscle enzyme activities were moderately elevated. A myopathic pattern was seen on the electromyogram. A muscle biopsy showed muscle fiber atrophy with peri- and endomysial fibrosis. Patient 2 was a 39-year-old man with a five-year history of isolated rigidity of the cervical spine thought to be due to a spondylarthropathy. Extension was the only movement possible at the cervical spine. The peripheral joints showed no motion range limitation. Findings were normal from radiographs of the spine and sacroiliac joints, an erythrocyte sedimentation rate determination, an electromyogram, and muscle enzyme activity assays. A muscle biopsy showed muscle fiber atrophy with peri- and endomysial fibrosis. DISCUSSION: Rigid spine syndrome is rare in rheumatological practice and can simulate a number of other muscle and joint diseases. Peri- and endomysial fibrosis may be strongly suggestive, although nonpathognomonic. Involvement of the heart governs the prognosis.- - - - - - - - - - ranking = 0.73228744490523keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
9/434. EEM syndrome: report of a family and results of a ten-year follow-up.We report on a Brazilian kindred in which two sibs presented with the complete form of EEM (ectodermal dysplasia, ectrodactyly, and macular dystrophy) syndrome with hypotrichosis, dental anomalies, syndactyly, and retinal changes with prominent pigmentation in the posterior pole of the retina. In this family, we also observed another sib with syndactyly, as well as a first cousin with ectrodactyly. A 10-year follow-up demonstrated gradually decreasing visual acuity and progression of retinal degenerative anomalies.- - - - - - - - - - ranking = 0.2keywords = dystrophy (Clic here for more details about this article) |
10/434. syringomyelia and complex regional pain syndrome as complications of multiple sclerosis.OBJECTIVE: To describe a patient from Southeast Asia with the optic-spinal phenotype of multiple sclerosis who developed syringomyelia and resultant complex regional pain syndrome (formerly named reflex sympathetic dystrophy). DESIGN: Case report. SETTING: Department of neurology at a tertiary care hospital in the Republic of singapore. PATIENT: A 53-year-old Chinese woman with a history of optic neuritis developed an episode of left hemiparesis leading to a diagnosis of multiple sclerosis. Serial neuroimaging studies revealed an active demyelinating plaque in the cervical area that later progressed into a syrinx. Over a period of 1 year she also developed signs of sympathetic dysfunction including horner syndrome of the left eye and complex regional pain syndrome in the left hand. CONCLUSIONS: A case of the optic-spinal phenotype of multiple sclerosis that is commonly observed in Southeast Asia is described. This characteristically tissue-destructive form of multiple sclerosis resulted in syringomyelia complicated by a complex regional pain syndrome. Possible pathogenic mechanisms for these associations are discussed.- - - - - - - - - - ranking = 0.2keywords = dystrophy (Clic here for more details about this article) |
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