1/7. Hutchinson-Gilford progeria syndrome.Hutchinson-Gilford progeria syndrome is an extremely rare condition of premature aging. It is characterized by growth retardation and accelerated degenerative changes of cutaneous, musculoskeletal and cardiovascular systems. The pathogenesis of the disease is unknown. The patients usually appear normal at birth. Typical manifestations develop gradually and are evident by the first or second year of life. They have a remarkably similar physical appearance consisting of short stature, alopecia, craniofacial disproportion, micrognathia, hypoplastic mandible, beak-like nose, decreased subcutaneous fat, atrophic skin, sclerodermoid lesion, mottling hyperpigmentation, prominent scalp veins, prominent eyes, protruding ears with absence of earlobes, faint midfacial cyanosis, delayed closure of fontanelles and sutures, delayed dentition, horse-riding stance, thin limbs with prominent stiff joints, coxa valga, skeletal hypoplasia and dysplasia, dystrophic nails and high-pitched voice. Laboratory investigations are unremarkable. Metabolic, endocrine, serum lipid and immunologic studies show no uniform abnormalities. Typical radiographs demonstrate evidence of resorption of the distal ends of clavicles, attenuation of the terminal phalanges, diffuse osteopenia, and fishmouth vertebral bodies. In this report, a 3-year-old Thai girl with typical characteristics of Hutchinson-Gilford progeria syndrome is described.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/7. Horizontal transmission of candida parapsilosis candidemia in a neonatal intensive care unit.This report describes the nosocomial acquisition of candida parapsilosis candidemia by one of the six premature newborns housed in the same room of a neonatal intensive care unit at the Ospedale Santa Chiara, Pisa, italy. The infant had progeria, a disorder characterized by retarded physical development and progressive senile degeneration. The infant, who was not found to harbor C. parapsilosis at the time of his admission to the intensive care unit, had exhibited symptomatic conjunctivitis before the onset of a severe bloodstream infection. In order to evaluate the source of infection and the route of transmission, two independent molecular typing methods were used to determine the genetic relatedness among the isolates recovered from the newborn, the inanimate hospital environment, hospital personnel, topically and intravenously administered medicaments, and indwelling catheters. Among the isolates collected, only those recovered from the hands of two nurses attending the newborns and from both the conjunctiva and the blood of the infected infant were genetically indistinguishable. Since C. parapsilosis was never recovered from indwelling catheters or from any of the drugs administered to the newborn, we concluded that (i) horizontal transmission of C. parapsilosis occurred through direct interaction between nurses and the newborn and (ii) the conjunctiva was the site through which C. parapsilosis entered the bloodstream. This finding highlights the possibility that a previous C. parapsilosis colonization and/or infection of other body sites may be a predisposing condition for subsequent C. parapsilosis hematogenous dissemination in severely ill newborns.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/7. Hutchinson-Gilford progeria syndrome in siblings. Report of three new cases.The Hutchinson-Gilford progeria syndrome is a rare, inherited, pediatric condition with features of premature and accelerated aging. The pattern of inheritance is uncertain though both autosomal dominant and autosomal recessive modes have been proposed. The patients usually present after the 1st year of life with progressive skin and skeletal changes that give rise to a characteristic physical appearance. Three siblings seen at the University of benin teaching Hospital are described in this report, the third documenting the occurrence of progeria in African black patients. The two older siblings show the classic physical and radiologic changes described in progeria whereas the third, a 2-year-old boy, manifests only the early physical and radiologic changes of the disease. We compare the radiologic features of progeria with those of other progeroid conditions: acrogeria, Werner's and Cockayne's syndromes.- - - - - - - - - - ranking = 3keywords = physical (Clic here for more details about this article) |
4/7. Hutchinson-Gilford progeria syndrome in a 45-year-old man.A 45-year-old man with typical Hutchinson-Gilford progeria syndrome is described. The patient had the characteristic physical findings of this syndrome, such as short stature, "horse-riding" stance, coxa valga, alopecia, micrognathia, craniofacial disproportion, and prominent eyes. He had refractory congestive heart failure due to arteriosclerotic heart disease and hypertension, and he also had arteriosclerosis obliterans. Some immunologic and endocrinologic abnormalities commonly seen in the elderly were present in this patient. On the basis of a review of the literature, this is the first patient with this syndrome who had survived into the fourth decade.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/7. Leprechaunism (Donohue's syndrome) in a low birth weight infant.A 910 gm infant with leprechaunism, the smallest reported infant with this syndrome, was described. Marked discrepancies were noted between gestational age as assessed by physical examination, bone and dental roentgenographic studies, and renal histology. Radiographic and pathologic features of this syndrome were discussed. failure to thrive characterized the course of this infant despite adequate caloric intake. The precarious nature of these infants and difficulties encountered in obtaining adequate studies to delineate the cause of this syndrome were emphasized.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/7. The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents.A 4-year-old girl is reported with a neonatally apparent progeroid syndrome. Parenteral consanguinity indicates autosomal recessive inheritance. Psychomotor development and physical growth are severely deficient. Mainly characterized by congenital absence of subcutaneous fat tissue, this child is very similar to four patients reported earlier and recognized as representing a newly delineated clinical entity, called here the Wiedemann-Rautenstrauch or neonatal progeroid syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/7. Audiologic and otolaryngologic findings in progeria: case report.progeria is a rare syndrome, with an estimated incidence of 1 per 250,000 births. Although children with progeria have the appearance of premature aging or senility, the term is misleading because reported cases of progeria have not manifested most physical or biochemical aspects of old age. Many children with progeria appear normal at birth and then progressively, and rather rapidly, develop the characteristic features during early childhood. Although first described in the 1880s, only approximately 100 cases of progeria are reported in the international literature. The single case study of hearing in progeria, which appeared in 1965, is limited to pure-tone and speech audiometry findings. We report the results of otolaryngologic examination and pure-tone, speech, immittance, and auditory brainstem response (ABR) audiometry for a 5-year-old female with progeria. The patient had a mild-to-moderate, bilateral, conductive hearing loss. Immittance measurements were consistent with fixation of the ossicular chain and this was confirmed surgically. Mildly prolonged ABR wave I-V latencies suggest possible auditory central nervous system involvement.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |