1/10. Psychopathological changes preceding motor symptoms in Huntington's disease: a report on four cases.Neurodegenerative disorders often exhibit "classical" psychiatric symptoms as an initial presentation of the disease. Here we present four patients with different psychopathological abnormalities who were later diagnosed as having Huntington's disease. The range of symptoms covered affective and psychotic symptoms, antisocial behavior, cognitive problems reminiscent of dementia and suicidal idealisation. The pattern of progress of neuronal degeneration may be helpful in explaining the antecedent manifestation of psychiatric symptoms.- - - - - - - - - - ranking = 1keywords = degeneration (Clic here for more details about this article) |
2/10. neurosyphilis masquerading as corticobasal degeneration.We report on a patient with a syndrome resembling corticobasal ganglionic degeneration (CBD), including slight cognitive impairment, asymmetric akinesia, rigidity with myoclonus, and arm levitation, which can be one of the features of alien limb phenomenon; however, further diagnostic testing was consistent with neurosyphilis. Syphilis, "the great imitator," may also masquerade as CBD. Because neurosyphilis is treatable, it should be considered in the workup of patients with cognitive impairment and motor signs of CBD.- - - - - - - - - - ranking = 5keywords = degeneration (Clic here for more details about this article) |
3/10. A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration.A 23-year-old man had slow psychomotor development at 6 months of age and developed intermittent corneal clouding at about 18 months. He developed a truncal ataxia and hypotonia of the limbs combined with spasticity and active deep reflexes that did not progress. His skeleton and facies were normal. Between 1 and 13 years of age, he developed severe optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single-membrane-limited vacuoles containing lamellated membranes and a polymorphous substance in tissue-cultured cells and conjunctiva.- - - - - - - - - - ranking = 1881.9203536556keywords = retinal degeneration, degeneration (Clic here for more details about this article) |
4/10. A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration.A man now 22 years of age had slow psychomotor development about 6 months after birth and developed intermittent corneal clouding at about 18 months. He developed truncal ataxia, hypotonia of the limbs combined with spasticity, and active deep reflexes. These have not progressed. His skeleton and facies are normal. Between his first and thriteenth year he developed sev ere optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single membrane vacuoles containing lamellated membranes and a polymorphous substance in tissue cultured cells and conjunctiva.- - - - - - - - - - ranking = 1881.9203536556keywords = retinal degeneration, degeneration (Clic here for more details about this article) |
5/10. Ocular abnormalities in mucolipidosis IV.Systemic findings in a 23-year-old white man with mucolipidosis type IV included early delayed psychomotor development, mental retardation, and mild facial dysplasia. There was urinary excretion of chondroitin sulfate. Ophthalmologic examination showed corneal haze, pigmentary retinopathy, and severe optic atrophy. light microscopy showed massively engorged superficial and intermediate epithelial cells of both the cornea and the conjunctiva. By transmission electron microscopy these contained fine granular material consistent with acid mucopolysaccharide and concentric lamellar bodies presumably representing phospholipids. This storage phenomenon was also found in macrophages, plasma cells, ciliary epithelial cells, schwann cells, retinal ganglion cells, and vascular endothelial cells. light microscopy also disclosed early cataract formation, marked outer retinal degeneration, and optic atrophy.- - - - - - - - - - ranking = 470.4800884139keywords = retinal degeneration, degeneration (Clic here for more details about this article) |
6/10. adrenal insufficiency, myopathic hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder ectasia in 2 brothers: adrenomyodystrophy.Two brothers are described who manifested primary adrenal insufficiency, dystrophic myopathy, severe psychomotor retardation, failure to thrive, fatty degeneration of the liver, megalocornea, chronic constipation, and terminal bladder ectasia until their death at 3 8/12 and 1 7/12 years, respectively. The differential diagnosis to similar syndromes is discussed. This combination of problems apparently has not yet been described. The term adrenomyodystrophy is suggested.- - - - - - - - - - ranking = 1keywords = degeneration (Clic here for more details about this article) |
7/10. Mucolipidosis type IV: a mild form with late onset.A 16-year-old girl is presented with mild clinical manifestations and late onset of mucolipidosis type IV (MLIV). The patient, an Ashkenazi Jew, has had minor motor difficulties and mild psychological disturbances since early childhood. Her vision began deteriorating at 12 years of age, due to bilateral corneal opacities and retinal degeneration. At present she attends a regular high school, although she is slow and scholastic achievements are lower than average. Electron microscopic examination and biochemical studies were typical for MLIV, namely, abnormal ganglioside retention and typical pattern of phospholipids accumulation. This very mild presentation of MLIV suggests a broader spectrum of heterogeneity of this disorder and raises the possibility that MLIV, at least among Ashkenazi jews, might be more frequent than estimated hitherto, due to undiagnosed mild patients.- - - - - - - - - - ranking = 470.4800884139keywords = retinal degeneration, degeneration (Clic here for more details about this article) |
8/10. Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders.A 3-year-old girl with rhizomelic chondrodysplasia punctata (RCDP) had severe microcephaly but a normal gyral pattern, neuronal density, and cortical cytoarchitecture. The white matter was diffusely decreased in mass but normally myelinated. There was optic atrophy and cerebellar degeneration. Leukodystrophy in peroxisomal disorders is caused by elevated very long chain fatty acids. The absence of a fatty acid abnormality in RCDP explains the normal myelination. Cerebellar and retinal degeneration and possible stunted dendritogenesis may be due to plasmalogen deficiency, which is the most severe biochemical abnormality in RCDP.- - - - - - - - - - ranking = 471.4800884139keywords = retinal degeneration, degeneration (Clic here for more details about this article) |
9/10. depression in hepatolenticular degeneration (Wilson's disease).OBJECTIVE: To describe the course of depression in a patient with hepatolenticular degeneration (Wilson's disease). CLINICAL PICTURE: A 21-year-old male with hepatolenticular degeneration is described in whom depression was the earliest manifestation. Insomnia and psychomotor slowing were prominent. TREATMENT: The mood disturbance showed limited response to tricyclic antidepressants, mianserin, lithium augmentation and initial decoppering therapy. Introduction of the chelating agent tetrathiomolybdate was followed by normalisation of mood and improvement in non-psychiatric symptoms. OUTCOME: Three years after the disorder was first diagnosed the patient was euthymic and fully functional. CONCLUSIONS: Although hepatolenticular degeneration is rare, it commonly presents with psychiatric symptoms. It is important for psychiatrists to be aware of the condition and its psychiatric manifestations.- - - - - - - - - - ranking = 7keywords = degeneration (Clic here for more details about this article) |
10/10. chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants.Pathologic, ultrastructural and radiologic studies are described on 3 infants with the rhizomelic form of chondrodysplasia punctata. Radiologic criteria in the young infant include radiolucent coronal clefts dividing all or most of the thoracic and lumbar vertebral bodies, short humeri with flared metaphyses and punctate calcifications commonly present adjacent to the ossified ischial and pubic bones and less commonly in other locations. In late infancy and childhood the radiologic criteria include demineralization in all bones with slow maturation, flat vertebral bodies, short humeri and femora, metaphyseal flaring, especially in the distal humerus, proximal femur and proximal tibia, immature shape of pelvis, and disappearance of the punctate calcifications with advancing age. The histologic changes of the resting cartilage include areas of degenerating cartilage which had become partially calcified, cystic changes with severe disturbance of the maturation of the cartilage at the physial plate, and the formation of cancellous bone directly on resting cartilage. Ultrastructural changes are characterized by degeneration of chondrocytes, delicate collagenous fibrils without visible periodicity, and the presence of flocculent material within greatly distended endoplasmic reticulum.- - - - - - - - - - ranking = 1keywords = degeneration (Clic here for more details about this article) |
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