1/118. 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. ( info) |
2/118. Lethal neonatal Hutchinson-Gilford progeria syndrome. We report on a 35-week gestation female fetus with Hutchinson-Gilford progeria (HGP). This patient, who is the first reported with neonatal HGP in the English literature but is the fourth, counting three previous French cases, supports the existence of a more severe prenatal form of progeria. She died 7 hours after birth and presented with intrauterine growth retardation, premature aging, absence of subcutaneous fat, brachydactyly, absent nipples, hypoplastic external genitalia, and abnormal ear lobes. The child's combination of clinical and skeletal manifestations differentiates this form of HGP from other progeroid syndromes with neonatal presentation. We also report previously undescribed autopsy findings including premature loss of hair follicles, premature regression of the renal nephrogenic layer, and premature closure of the growth plates in the distal phalanges that may be related to the aging processes in this condition. We could not find any histological data to support acro-osteolysis, which is the radiographic sign of brachydactyly. The terminal phalanges in HGP seem to be underdeveloped rather than osteolytic. ( info) |
3/118. progeria (Hutchinson-Gilford): a case report. A new case with the typical features of progeria (Hutchinson-Gilford) occurred in india. Histopathology of the skin showed atrophic epidermis and diffuse fibrosis of dermis with loss of appendages. Roentgenographic findings were characteristic of progeria. The child also had a gangrenous ulcer over the left foot, a finding not highlighted in the literature. ( info) |
4/118. Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review. The neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, hypotrichosis of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and micrognathia. We report on 5 new patients who demonstrate phenotypic variability and who represent the single largest series of NPS reported to date. Two of the patients are from an African-American kindred, an ethnic occurrence not reported previously. The fact that there are 2 pairs of sibs among the 5 patients further supports that NPS is an autosomal recessive condition. This report also includes a review of the previously reported 16 patients and compares them with the 5 new patients. Abnormalities in endocrine and lipid metabolism were found in 3 of 5 patients. Skeletal findings in 2 of our patients demonstrated some new findings as well as the typical radiological abnormalities previously noted in NPS. It is apparent, based on the 21 cases, that mild to moderate mental retardation is common in NPS. Long term follow-up of patients with NPS should provide more information relative to their ultimate psychomotor development. NPS is usually lethal by 7 months; however, on rare occasions, patients have survived into the teens. Our 3 surviving patients range in age from 16-23 months. Variability in the phenotype of NPS is clear; however, the phenotype remains distinct enough to allow a secure diagnosis. ( info) |
5/118. A new case of neonatal progeroid syndrome with agenesis of corpus callosum. We report on a female infant with a history of severe intrauterine and postnatal growth retardation, pseudohydrocephaloid cranium, frontal bossing, widened fontanelles, prominent scalp veins, progeroid face, entropion, beaked nose, small mouth, generalized lipodystrophy, camptodactyly and hypoplasia of lower limb muscles, suggesting the diagnosis of neonatal progeroid syndrome (NPS). In addition, she had congenital hip dysplasia and agenesis of corpus callosum. It is the first Hungarian case with neonatal progeroid syndrome. ( info) |
6/118. Progeroid syndrome with facial teleangiectatic erythema, posterior subcapsular cataracts, calcification of basal ganglia and atrium septum defect type 2. In this report we present the long-term follow-up findings in a young female born to consanguineous parents with the unique association of (1) a progeroid syndrome, (2) facial dysmorphism with relative microcephaly, triangular face, retrognathism and skin erythema, (3) bilateral posterior cataracts, (4) basal ganglia calcifications and (5) atrium septum defect type 2. intelligence is borderline. Clinical evolution after normal puberty was positive with regression of the facial erythematous changes. Over the years differential diagnosis included progeria, hypohidrotic ectodermal dysplasia, Rothmund-Thompson syndrome, cockayne syndrome, bloom syndrome, but the clinical spectrum of abnormalities and the evolution with age were not compatible with one of these diagnoses. Parental consanguinity is in favour of autosomal recessive inheritance. ( info) |
7/118. Histological and ultrastructural features of atherosclerosis in progeria. This histological and ultrastructural study of a limited amount of vascular tissue from a progeric woman of 20 years who died of traumatic subdural hemorrhage supports the belief that the vascular changes are atherosclerotic. The unusual features observed were collagen fibrils with a relatively small diameter in the atherosclerotic intima and media, extensive loss of mural smooth muscle cells particularly in the aorta, and widespread contraction bands in smooth muscle cells in vascular and nonvascular tissues. Smooth muscle cells appear to be unusually susceptible to hemodynamic and ischemic stress. Further autopsy studies are required to elucidate the etiology and pathogenesis of this unique disease. ( info) |
8/118. Mandibulo-acral dysplasia: Indian patient with severe bony changes. We report an Indian patient with mandibulo-acral dysplasia. This patient had absence of spinous processes of 4th and 5th cervical vertebrae and very severe bony changes but no loss of teeth. ( info) |
9/118. progeria infantum (Hutchinson-Gilford syndrome) associated with scleroderma-like lesions and acro-osteolysis: a case report and brief review of the literature. progeria infantum (Hutchinson-Gilford syndrome) is a very rare syndrome of premature aging characterized by growth retardation and specific, progressive, premature senescent changes of the skin and other tissues. We report a 1.5-year-old girl with loss of scalp hair, eyebrows, and lashes, prominent scalp veins, micrognathia, abnormal ears, loss of subcutaneous tissue, and scleroderma-like areas over the trunk. Radiographic studies revealed coxa valga and acro-osteolysis of the terminal phalanges. The clinical and radiologic features corresponded well with progeria infantum. ( info) |
10/118. progeria kidney has abnormal mesangial collagen distribution. It has been suggested that progeria, a congenital disorder associated with clinical features that resemble premature aging, may be the result of a connective tissue abnormality. Although to date the clinical and pathologic features for 14 autopsied cases of progeria have been reported, details as to the renal changes in progeria are scanty. We investigated the histological features from a male and female with progeria who died aged 11 years and 20 years respectively. In our young male subject there was no glomerulosclerosis, while the kidney from the older subject showed focal renal scarring with focal glomerulosclerosis and associated tubular atrophy. Two small papillary adenomas were present within the renal cortex of the latter subject. In both cases non-sclerotic glomeruli were moderately enlarged with expansion of mesangial matrix. Immunohistochemical detection of collagens showed absence of collagen I and III within the mesangium of non-sclerotic glomeruli, while there was moderate to marked expression of collagen IV, V and VI. collagen V is thought to be involved in matrix assembly while collagen VI probably has a regulatory role in extracellular matrix development and these are either not seen or are very weakly expressed in normal renal mesangium. The distribution of collagen within the mesangium of progeria kidney is evidence in support of the concept that progeria is a primary connective tissue disorder. ( info) |