1/2128. Hereditary perioral pigmented follicular atrophoderma associated with milia and epidermoid cysts. Eight members of a single family all presented the characteristic changes of facial, especially perioral, pigmented follicular atrophoderma, with numerous milia and epidermoid cysts. For this condition. diagnosis at a glance may be possible because of the perioral cutaneous manifestations. Histopathological examination of follicular atrophoderma revealed proliferation of basaloid cells continuous with the epidermis and coarse collagen fibres, with a decreased density of elastic fibres around the basaloid cells. Two of the eight individuals also showed generalized hypohidrosis. The eight affected persons were the proband, her son, mother, uncle, two younger sisters, cousin and nephew: an autosomal dominant mode of transmission was suggested from this family tree. The patients' symptoms resembled those of Bazex-Dupre-Christol syndrome, except for the different distribution of the follicular atrophoderma and the absence of basal cell carcinoma and hypotrichosis. This disease may be an entirely new syndrome characterized by perioral pigmented follicular atrophoderma associated with milia and epidermoid cysts. ( info) |
2/2128. The atrophic variant of dermatofibrosarcoma protuberans in childhood: a report of six cases. dermatofibrosarcoma protuberans (DFSP) is typically diagnosed during early adult life at a tumoral stage. It occurs only rarely in children. We report six childhood cases of DFSP which presented initially with the misleading clinical appearance of atrophic plaques, and we review over 140 cases of DFSP in childhood. As compared with adult forms, DFSP in children does not show distinctive features except for a tendency for acral localization. The diagnosis is difficult because of the slow course of the lesions, which present initially as apparently benign atrophic morphoeaor keloid-like plaques. We believe that DFSP in childhood is probably under-estimated, as a significant proportion of patients diagnosed as young adults had an onset several years earlier. Better knowledge of the initial appearance is important for making an early diagnosis and for an easier surgical treatment. ( info) |
3/2128. Dermal vessels in acrodermatitis chronica atrophicans. An ultrastructural investigation of two patients suffering from acrodermatitis chronica atrophicans revealed in the small dermal vessels swelling of the endothelial cells, material of probably plasmatic origin accumulated in the subendothelial area, and sleeves of basement membrane-like material on a concentric perivascular layout. ( info) |
4/2128. technetium-99m-HmPAO brain SPECT in infantile Gaucher's disease. The authors report serial technetium-99m hexamethylpropylene-amine-oxime brain single photon emission computed tomography (SPECT) findings in two infants with Gaucher's disease type 2. Detailed neurologic and laboratory examinations, including bone marrow biopsies and enzymatic assays, were described. Serial brain magnetic resonance imaging studies in one patient illustrated the progressive cerebral atrophy in the frontal and temporal lobes. The SPECT in both cases demonstrated positive findings of initial scattered hypoperfusion, with extending to hypoperfusion of the entire cerebrum after 4 months of clinical deterioration. These changes in the SPECT findings may reflect progressive degeneration of the cerebrum in Gaucher's disease type 2. brain SPECT may provide useful information on cerebral flow and metabolic distribution corresponding to the neurologic deficits of neuronopathic Gaucher's disease. ( info) |
5/2128. Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum. A Japanese male with mosaicism of ring chromosome 14 and chromosome 14 monosomy is described. He demonstrated the characteristic morphologic features of ring chromosome 14, in addition to mental retardation and epileptic seizures. Clusters of complex partial seizures, one of which originated in the left frontocentral region on electroencephalographic monitoring, were evident. His seizures responded to phenobarbital, and his mental and motor development was only mildly retarded. magnetic resonance imaging revealed a hypoplastic corpus callosum, previously unknown in association with this syndrome. ( info) |
6/2128. MR and CT imaging in the Dyke-Davidoff-Masson syndrome. Report of three cases and contribution to pathogenesis and differential diagnosis. Cerebral hemiatrophy or Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis, and mental retardation. These findings are due to cerebral injury that may occur early in life or in utero. The radiological features are unilateral loss of cerebral volume and associated compensatory bone alterations in the calvarium, like thickening, hyperpneumatization of the paranasal sinuses and mastoid cells and elevation of the petrous ridge. The authors describe three cases. Classical findings of the syndrome are present in variable degrees according to the extent of the brain injury. Pathogenesis is commented. ( info) |
7/2128. Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: a new genetic disorder? A child of first-cousin Puerto Rican parents had global developmental delay, failure to thrive, and hypotonia since early infancy. At 1 1/2 years of age, she developed clinical and electrophysiologic evidence of progressive motor and sensory neuropathy. At 2 1/2 years, she developed visual impairment and optic atrophy followed by gradual involvement of the 7th, 9th, 10th, and 12th cranial nerves. Uncontrollable myoclonic seizures began at 4 years and she died at 6 years of age. Motor nerve conduction velocities were initially normal and later became markedly slowed. Sensory distal latency responses were absent. Lysosomal enzyme activities in leukocytes and fibroblasts were normal. sural nerve and two muscle biopsies showed only nondiagnostic abnormalities. Electron microscopy of lymphocytes, skin, and fibroblasts showed cytoplasmic inclusions. light microscopy of frontal cortex biopsy showed neuronal storage material staining positively with Luxol fast blue, and electron microscopy showed cytoplasmic membranous bodies in neurons, suggesting an accumulation of a ganglioside. At autopsy, all organs were small but otherwise normal and without abnormal storage cells in the liver, spleen, or bone marrow. Anterior spinal nerve roots showed loss of large myelinated axons. The brain was small and atrophic; cortical neurons showed widespread accumulation of storage material, most marked in the pyramidal cell layer of the hippocampus. Subcortical white matter was gliotic with loss of axons and myelin sheaths. In cortical gray matter there was a 35% elevation of total gangliosides, with a 16-fold increase in GM3, a three- to four-fold increase in GM2 gangliosides, and a 15-fold elevation of lactosyl ceramide. GM3 sialidase activity was normal in gray matter at 3.1 nmols/mg protein per hour and lactosyl ceraminidase I and II activities were 70% to 80% of normal. In white matter, total myelin was reduced by 50% but its composition was normal. Phospholipid distribution and sphingomyelin content were normal in gray matter, white matter, and in the liver. These biochemical findings were interpreted as nonspecific abnormalities. The nature of the neuronal storage substance remains to be determined. ( info) |
8/2128. Pathological study on sibling autopsy cases of the late infantile form of neuronal ceroid lipofuscinosis. We report autopsy cases of two brothers with the late infantile form of neuronal ceroid lipofuscinosis (LINCL) and examine apoptotic cell death in autopsied brains. Both patients showed psychomotor developmental delay, cerebellar ataxia, convulsions, visual disturbance and myoclonus, and they became bedridden around the age of 6-7 years. Macular changes, mimicking cherry-red spots, were observed on funduscopy, but conjunctival biopsy failed to disclose storage materials. In these cases, the autopsies demonstrated severe atrophy with neuronal loss and gliosis throughout the brain and spinal cord, except the hypothalamic neurons and motor neurons in the brain-stem and spinal cord, and autofluorescent lipofuscin-like materials of two types, fine granular deposits and coarse round bodies, were stored in the remaining neurons and glial cells, and in the epithelial cells of various visceral organs. Immunostaining for mitochondrial subunit C visualized the fine granular deposits but not the coarse round bodies. The nuclei of neurons and glia cells were stained by in situ nick end labeling, which was more pronounced in the younger case, although the expression of both bcl-2 and bcl-x was not significantly altered in these cases. It is suggested that immunohistochemistry for subunit C may be useful for diagnosis of NCL, and further investigations are necessary to clarify the relationship between LINCL and apoptosis, especially in severely affected cases. ( info) |
9/2128. Atrophie blanche lesions closely resembling malignant atrophic papulosis (Degos' disease) in systemic lupus erythematosus. Two patients with systemic lupus erythematosus are described who in the course of their disease developed small atrophie blanche lesions that closely resembled those found in malignant atrophic papulosis. Preliminary investigation of these two cases indicates that considerable similarities probably exist in the pathogenesis of malignant atrophic papulosis and the atropie blanche lesions of systemic lupus erythematosus. It is concluded that a diagnosis of malignant atrophic papulosis should only be made after systemic lupus erythematosus has been excluded by full investigation. ( info) |
10/2128. Abrupt exacerbation of acute subdural hematoma mimicking benign acute epidural hematoma on computed tomography--case report. A 75-year-old male was hit by a car, when riding a bicycle. The diagnosis of acute epidural hematoma was made based on computed tomography (CT) findings of lentiform hematoma in the left temporal region. On admission he had only moderate occipitalgia and amnesia of the accident, so conservative therapy was administered. Thirty-three hours later, he suddenly developed severe headache, vomiting, and anisocoria just after a positional change. CT revealed typical acute subdural hematoma (ASDH), which was confirmed by emergent decompressive craniectomy. He was vegetative postoperatively and died of pneumonia one month later. Emergent surgical exploration is recommended for this type of ASDH even if the symptoms are mild due to aged atrophic brain. ( info) |