21/1210. Painless aortic dissection presenting as hoarseness of voice: cardiovocal syndrome: Ortner's syndrome.Most of the neurological manifestations of the aortic dissection are due to neuronal ischemia secondary to either extension of the dissection process into a branch artery, or compression of an artery by the false lumen of the dissecting aortic hematoma. However, the enlarging false lumen may directly compress on an adjacent nerve, causing neuronal injury resulting in neurological symptoms. This may particularly take place when a distal intimal tear does not decompress the false lumen, resulting in formation of an expanding blind pouch. About 10% of aortic dissections are painless and may present with symptoms secondary to the complications of the dissection. Although cardiovocal syndrome, or Ortner's syndrome (hoarseness of voice due to involvement of recurrent laryngeal nerve in cardiovascular diseases) has been described with aortic dissection, it has not been reported as an initial presenting feature of this disorder. This report describes the first case of painless aortic dissection presenting with hoarseness of voice, the cardiovocal syndrome. The hoarseness remained the only symptom throughout the entire course of the disease. The aortic dissection was not suspected initially. During surgical exploration, the recurrent laryngeal nerve was found compressed by the false lumen at the level of aortic arch. Aortic root replacement was performed successfully, resulting in complete resolution of the hoarseness. The neurological manifestations of aortic dissection, and the cardiovocal syndrome, are discussed.- - - - - - - - - - ranking = 1keywords = artery (Clic here for more details about this article) |
22/1210. brachydactyly type B: case report and further evidence for clinical heterogeneity.We present a male child with digital and radiographic findings consistent with brachydactyly type B. His left hand had 2-4 syndactyly, shortened first and fifth digits and single palmar and fifth finger flexion creases. The nail on the second finger was hypoplastic. The right hand had a small thumb and curving of the second finger towards the midline. The left foot had a short left hallux with an absent nail, 2-4 syndactyly and an absent toe. His right foot had a short, dorsiflexed hallux with a hypoplastic nail, 2-3 syndactyly and an overlapping toe. Radiographs showed asymmetrical hypoplasia of the middle and terminal phalanges and there were no extra-articular findings to suggest Sorsby syndrome. brachydactyly type B has classically been described as hypoplasia or absence of the terminal phalanges with absent nails. Although other digital anomalies have previously been described with brachydactyly type B, the absent digit, atypical syndactyly and marked asymmetry in this child make this case a good illustration of the clinical heterogeneity that can be associated with this type of brachdactyly. We provide a brief review of syndromes in which similar digital malformations have been reported.- - - - - - - - - - ranking = 0.05774765006132keywords = single (Clic here for more details about this article) |
23/1210. Dominant inheritance of cleft palate with minor abnormalities of hands and feet: a new syndrome?We report a family in which four members of three generations are affected by median cleft palate. The proband and her mother have additional features including bilateral single transverse palmar creases, broad great toes and hypoplastic fifth toenails. Dominant isolated cleft palate has rarely been reported, and there are no previous reports of dominant cleft palate with these associated features. We believe that this represents a previously unreported syndrome, which needs to be considered when assessing recurrence risk for cleft palate.- - - - - - - - - - ranking = 0.05774765006132keywords = single (Clic here for more details about this article) |
24/1210. Tandem spinal cord injuries without radiographic abnormalities in a young child.Anatomic features unique to the pediatric spine render this population susceptible to spinal cord injuries without radiographic abnormalities (SCIWORA). To date, published descriptions of SCIWORA have been limited to a single region of the spinal column. We describe a case of a 3-year-old boy in whom, after a motor vehicle accident, tandem SCIWORA lesions involving the lower cervical spinal cord and thoracolumbar junction resulted in severe quadraparesis. The child was initially treated with 24 h of methylprednisolone followed by 3 months of external orthoses of both the cervical and thoracic spine. We include in this article a brief review of the literature and treatment guidelines for SCIWORA and postulate the mechanism of these tandem spinal cord injuries.- - - - - - - - - - ranking = 0.05774765006132keywords = single (Clic here for more details about this article) |
25/1210. Is there a syndrome of tuberothalamic artery infarction? A case report and critical review.Short-term post-acute neuropsychological, neurological, and neuroradiological test results and a 16-month follow-up of a 65-year-old patient with a right hemisphere ischemic lesion in the tuberothalamic area of vascular supply are reported. During a 6-week period of examinations the originally left- but trained right-handed patient exhibited fluctuating neuropsychological disorders including aphasia, visuo-perceptive and visuoconstructive disorders, and memory and attention deficits. In the follow-up examination the patient exhibited no aphasia and significant improvements in most neuropsychological tasks. Based on three-dimensional reconstruction of MRI, lesion topography and involvement of thalamic nuclei were established. We discuss the neuropsychological and neurological symptoms of the present case against the background of the 'syndrome of unilateral tuberothalamic artery territory infarction' proposed by Bogousslavsky and coworkers (1986) and the neuropsychological literature on unilateral ischemic anterior/anterolateral thalamic infarction.- - - - - - - - - - ranking = 2.5keywords = artery (Clic here for more details about this article) |
26/1210. Topless optic disk syndrome without maternal diabetes mellitus.PURPOSE: To describe four cases of topless optic disk syndrome without maternal diabetes mellitus. METHOD: Four patients had incidentally discovered inferior visual field defects. RESULTS: Ophthalmoscopic examinations in all four patients disclosed superiorly displaced entrances of the central retinal artery and thinning of the superior peripapillary nerve fiber layers. One patient had a superior peripapillary crescent with pallor of the superior disk. These clinical findings were consistent with a diagnosis of superior segmental optic hypoplasia, the topless disk. None of the patients had mothers who had diabetes. CONCLUSIONS: The topless optic disk syndrome can occur in the absence of maternal diabetes mellitus.- - - - - - - - - - ranking = 0.5keywords = artery (Clic here for more details about this article) |
27/1210. microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.We report on a follow-up examination of a family with microcephaly and lymphedema. The finding of chorioretinal dysplasia with variable visual deficit in multiple relatives, which was not previously discovered, supports the concept of microcephaly, lymphedema, and chorioretinopathy as being a single autosomal dominant genetic entity with variable expression. We recommend that fundoscopic examination be performed in all patients with microcephaly with or without lymphedema.- - - - - - - - - - ranking = 0.05774765006132keywords = single (Clic here for more details about this article) |
28/1210. Two sibs with Malpuech syndrome.We report on two Italian brothers with facial clefting, hypertelorism, urogenital anomalies including micropenis, shawl scrotum, hearing loss, caudal appendage, and umbilical hernia. We have evaluated the two cases as Malpuech syndrome. This is an extremely rare autosomal recessive syndrome.- - - - - - - - - - ranking = 0.20589448216562keywords = umbilical (Clic here for more details about this article) |
29/1210. A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome.Simpson-Golabi-Behmel syndrome (SGBS) is one of the overgrowth syndromes. Microdeletions of the glypican-3 (GPC3) gene were described by Pilia et al. (1996). Glypican-3 encodes a putative extracellular proteoglycan which is expressed in embryonic mesodermal tissues and plays an important role in embryonal growth. We report a Japanese patient with SGBS who had a single base deletion in the exon 7 of the GPC3 gene. This is the first report of a single base deletion of the GPC3 gene.- - - - - - - - - - ranking = 0.11549530012264keywords = single (Clic here for more details about this article) |
30/1210. short rib-polydactyly syndrome: more evidence of a continuous spectrum.We report a fetus with radiological features of the four established types of short rib-polydactyly syndrome (SRPS). The phenotype of this fetus supports the previously suggested hypothesis that the different subtypes of the short rib and polydactyly syndrome are not single entities, but rather, part of a continuous spectrum with variable expressivity.- - - - - - - - - - ranking = 0.05774765006132keywords = single (Clic here for more details about this article) |
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