Congenital Generalized Lipodystrophy

Najjar, Shadi; Salem, George; Idriss, Ziad H.

doi:10.1111/j.1651-2227.1975.tb03834.x

Cited by 18 publications

(7 citation statements)

References 19 publications

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“…Endocrine abnormalities other than hypothyroidism [Bitoun et al, 1995], cryptorchidism [Arboleda et al, 1997; Rudin et al, 1988], and hyperprolactinaemia [Arboleda et al, 1997] have not been reported previously in NPS. Insulin resistance has been well described in patients with generalized lipodystrophy in other conditions [Najjar et al, 1975]. If the insulin level is high in the presence of lipodystrophy, it may be hypothesized that severe insulin resistance is present either as a defect in the insulin receptor or in postreceptor signaling.…”

Section: Discussionmentioning

confidence: 99%

“…The differential diagnosis of NPS includes other “progeroid” syndromes such as Hallerman‐Streiff syndrome (HSS), De Barsy syndrome, Hutchinson‐Gilford syndrome, Cockayne syndrome, Berardinelli‐Seip syndrome, leprechaunism, and carbohydrate deficient glycoprotein (CDG) syndrome Type 1 [DeBusk, 1972; Donohue and Uchida, 1954; François, 1958; Karnes et al, 1992; Najjar et al, 1975; Nance and Berry, 1992; Seip and Trygstad, 1963]. All of these progeroid‐like syndromes share some findings in common with NPS.…”

Section: Discussionmentioning

confidence: 99%

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Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review

et al. 2000

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review

et al. 2000

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“…2) was born in 1957, a younger brother of patient No. 1. Both the pregnancy and delivery were normal, and the birthweight was 4OOOg and the length 52cm.…”

Section: Patientsmentioning

confidence: 92%

Generalized lipodystrophy, congenital and acquired (lipoatrophy)

Seip¹,

Trygstad²

1996

Acta Paediatrica

270

199

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Seip M, Trygstad 0. Generalized lipodystrophy, congenital and acquired (lipoatrophy) Acta Pediatr 1996; Suppl413:2-28. Stockholm. ISSN 0803-5326 This review is based on longitudinal studies on our seven patients with congenital generalized lipodystrophy, our patient with acquired generalized lipodystrophy, and published papers on these subjects. An inability to store energy in adipose tissue is of pathogenetic importance. In congenital lipodystrophy, insulin resistance is present from birth, resulting in hyperinsulinaemia, dyslipidaemia, and insulin-resistant diabetes with an anabolic syndrome worsened by a voracious appetite. Clinically. we observed increased height velocity in pre-school age children, and organomegaly with hypertrophic cardiomyopathy, which seems to be lethal in early adulthood: three of our patients died at the ages of 24,32 and 37 years. The oldest alive, 39 years, suffers from stenocardia. Regarding treatment, it is most important to reduce energy consumption. The congenital form is recessively inherited. The aetiology may be related to insulin receptor or postreceptor mechanisms. Acquired generalized lipodystrophy seems to be an autoimmune disorder with secondary destruction of the adipose organ; the anabolic syndrome with insulin-resistant diabetes is secondary. Our patient died when 24 years old from pneumonia. 0 Acanthosis nigricans. anabolic syndrome, generalized lipodvstrophy, h~vpermetaholism, hypertrophic cardiomyopathy , lipoatrophic diabetes 0 Trygstad, Department of Paediatrics, Rikshospitalet. N-0027 Oslo, Norway cr) Scandinavian University Press 1996. ISSN 0803-5253 Generu1i:ed lipodwtrophy 3 ACTA PEDIATR SUPPL 413 (1W6) Tuhle 1. Main clinical features in generalized lipodystrophy. Congenital type ( Berurdinelli-Seip syndrome) 1. 2. 3. 4. 5. 6. 7. Extreme paucity of fat in subcutaneous and other adipose tissues, with insulin resistance, hyperinsulinaemia, hypertriglyceridaemia, and non-ketotic diabetes Voracious appetite and hypermetabolism, hyperhidrosis An anabolic syndrome with increased height velocity, advanced bone age. muscular hypertrophy, masculine body build, acromegaloid stigmata, organomegaly, enlarged genitalia in infancy, abundant hair of the scalp, hypertrichosis Hypertrophic cardiomyopathy (serious) Acanthosis nigricans Often mild mental retardation Hypothalamic-pituitary dysfunction Acquired type (Seip-Lowrence svndronte)

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“…Mildly advanced BA is found in precocious adrenarche [13] and to a lesser extent in premature thelarche [14,15]. Significant BA advancement is also a consistent finding in genetic overgrowth syndromes (Sotos, Beckwith-Wiedemann and Marshall-Smith) [16,17], while less prominent advancement is associated with overweight from a young age [18], constitutional tall stature [19], various bone dysplasias [20] and lipodystrophy [21]. The rate of bone maturation and the clinical outcome vary in accordance with the underlying etiology.…”

Section: Introductionmentioning

confidence: 96%

Natural History of Idiopathic Advanced Bone Age Diagnosed in Childhood: Pattern of Growth and Puberty

et al. 2010

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Background: Significant idiopathic bone age (BA) advancement is defined as BA >2 SD above the mean chronological age (CA) with no underlying etiology. BA advancement due to endocrinopathies is associated with early puberty and compromised adult height (AHt), necessitating treatment. The natural history of idiopathic BA advancement is not well-established. Aim: To determine the pattern of growth and puberty, and validity of AHt prediction in idiopathic BA advancement. Methods: Fifty-five prepubertal patients (20 boys aged 6.7 ± 2.2 years, 35 girls aged 6.4 ± 2.0 years) evaluated between 1985 and 2008 were found to have idiopathic BA advancement. Assessed during follow-up were: BA, height (Ht), weight (Wt), pubertal course and predicted AHt (PAHt). Attained AHt was compared to PAHt and to midparental Ht (MPHt). Results: Throughout follow-up, BA-SDS (SD score) significantly declined (p < 0.001), Ht-SDS significantly decreased (p = 0.006) and Wt-SDS did not change. Pubertal onset, duration and growth were within the normal range. Attained AHts did not differ significantly from MPHts (boys: 172 ± 6.7 vs. 171 ± 6.1 cm; girls: 160.5 ± 6.5 vs. 159.0 ± 6.8 cm). PAHts using the ‘accelerated’ tables of Bayley and Pinneau were accurate. Conclusion: Idiopathic BA advancement differs from BA advancement with underlying endocrinopathy in evolution of BA progression (decline in BA-SDS), growth pattern, validity of AHt prediction and uncompromised AHt. This indicates that it requires minimal clinical monitoring and usually does not mandate treatment.

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Congenital Generalized Lipodystrophy

Cited by 18 publications

References 19 publications

Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review

Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review

Generalized lipodystrophy, congenital and acquired (lipoatrophy)

Natural History of Idiopathic Advanced Bone Age Diagnosed in Childhood: Pattern of Growth and Puberty

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