Summary. A familial reciprocal translocation t(6p + ;l lq-) is presented, unbalanced (6p +) in the craniorachischisic propositus and balanced in his phenotypically normal father, associated with relative infertility, multiple spontaneous abortions, and failure to produce normal offspring. The karyotype-phenotype relationship is discussed with reference to other published cases of partial trisomy for the distal portion of the long arm of chromosome 11, and the concept of deletionunmasking is briefly considered. The occurrence of major neural groove closure defects due to a variety of translocations in mice is noted. The gametic segregation of balanced and unbalanced karyotypes is unique to each particular translocation making recurrence risk projections hazardous in the absence of prior experience with the particular translocation. The questions of the relative importance of genetic inheritance, chromosomal abnormalities, and many environmental factors including possible specific teratogens in causing neural groove closure anomalies are still unsettled. The paucity of published chromosome studies in these malformations is noted. We urge that cytogenetic studies with banding techniques be undertaken on these cases and their parents in order to expand basic knowledge of the role of chromosomal errors in their aetiology.Craniorachischisis, which combines anencephaly and total spina bifida with meningomyelocele, is the extreme example of defective neural groove closure. Because of their apparent anatomical and epidemiological similarity and the frequency with which one type may be born to a family which has already had another, defects such as craniorachischisis, anencephaly, spina bifida, meningomyelocele, and hydrocephalus are frequently considered together in attempts to elucidate their causes. Anencephaly is the most common and shows wide variation in incidence geographically and ethnically (Green, 1964), rang-
We describe a eaaa of thoracic mydopathy in a patient with rend I dsieortyatrnphy. The patient -had ctironFc renal tei I jra for longer then 20 yesr* and had skeletal change's indicative of renal oslnodystnaph-yj bsfgre the onset of myelopalhy. Association between spinal stenosis and this enthy has been documented only once bgfore in the lumbar region. This is thorafora ihs firet case of thoracic myalopathy dud to sevai-e stenosis in just one vertebra Fn a patient with renal osteody atrophy, which was documented by computed lOinuyrEipFty us wull as magnetic ^sanar-ies imiijiry ard proven by FiistopathoFngy. IKny wnrrfs; computed tomography, magnetic resonance, renal ostaodystrophv., stenosis, thoracic myoFopathyl Metabolic bone disease or renal osteodystrophy is a common sequela of chronic renal failure. Common manifestation of this entity in the skeletal system is genu valgum, costochondral rosary, and Harrison's sulcus. Spinal stenosis with neurologic deficit has been reported only once in the literature. 3 We report a case of solitary but severe involvement of a thoracic vertebra with resultant myelopathy. This patient with chronic renal failure had documented changes in the ribs and long bones of the extremities attributed to renal osteodystrophy before he was seen with paraparesis. • Case ReportA 49-year-old man was first seen with increasing weakness of the lower extremities, pain in the lower thoracic spine, and numbness in the perirectal region. He also had a widebased gait with Grade 3-4 power in all the muscle groups of the lower extremities. The knee reflexes were brisk and he had absent ankle reflexes bilaterally. He also had an extensor (Babinski) reflex on the left. He had no deficit in the upper extremities. Plain radiographs of the ribs, long bones, and spine showed severe sclerosis. Computed to-From the Departments of *Neurosurgery, tRadiology, and ^Pathology, Hartford Hospital, Hartford, Connecticut. Accepted for publication March 30,1992. mography confirmed the above changes in the vertebral column without stenosis, except at the T7-8 level. Marked proliferative changes involved the articulating facets of T8, the latter symmetrically on either side. The laminae and pedicles at that level were not significantly involved in the osteodystrophic process. The spinal canal at this level was slitlike with thickening of fibrous and bony elements, and normal configuration cephalad and caudad, with thickening of fibrous and bony elements.Magnetic resonance imaging (MRI), performed in the spin echo and gradient echo technique, with time to repetition/time to echo (TR/TE) of 550/20 msec and 400/15 msec respectively, in the sagittal and axial planes, confirmed the stenosis at the T7-8 level. Furthermore, the sagittal plane images showed no canal encroachment elsewhere (GE 1.5 Tesla scanner, GE, Milwaukee, WI).The patient had a laminectomy with facetectomy done at the T7-8 level. Afterward his motor problems worsened. He was barely able to wiggle his toes. The sensory examination was unchanged. A postoperati...
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