PMID- 17523150
OWN - NLM
STAT- MEDLINE
DCOM- 20070928
LR  - 20220317
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 143A
IP  - 13
DP  - 2007 Jul 1
TI  - Body fat distribution and metabolic variables in patients with neonatal progeroid 
      syndrome.
PG  - 1421-30
AB  - Neonatal progeroid syndrome (NPS), also known as Wiedemann-Rautenstrauch 
      Syndrome, is a rare autosomal recessive disorder characterized by accelerated 
      aging and lipodystrophy from birth. Affected children have extreme intrauterine 
      growth retardation, poor postnatal weight gain, and characteristic facial 
      dysmorphic features such as a triangular shape, pinched nose, pseudohydrocephalus 
      with wide fontanelles and prominent subcutaneous (sc) veins. Generalized loss of 
      sc fat has been reported as a cardinal feature; however, the pattern of fat loss 
      and its association with insulin resistance and its metabolic complications have 
      not been systematically studied. The aim of the current study was to examine body 
      fat distribution and body composition in two girls with NPS using anthropometric 
      measures, whole-body magnetic resonance imaging (MRI) and dual energy X-ray 
      absorptiometry (DEXA), and to assess metabolic complications such as 
      hyperinsulinemia and dyslipidemia. Both the girls (aged 17 years and 10 years, 
      respectively) had generalized paucity of sc fat on physical examination. However, 
      measurements of skin-fold thickness revealed that sc fat was decreased over the 
      extremities, but preserved over the chest and abdomen. MRI studies confirmed the 
      presence of normal amounts of sc truncal fat, and marked loss of fat from the 
      face and distal extremities. Striking fat loss was also noted in the 
      paravertebral and lateral gluteal regions. Interestingly, body composition 
      analysis with DEXA scan revealed a marked reduction in both the fat and lean 
      tissue mass. Fasting glucose, lipids and insulin levels were not elevated. We 
      conclude that patients with NPS do not have generalized lipodystrophy as 
      previously reported, but fat loss is confined to the face, distal extremities, 
      and possibly the paravertebral and lateral gluteal regions. Metabolic 
      abnormalities related to insulin resistance are also uncommon in this condition.
CI  - (c) 2007 Wiley-Liss, Inc.
FAU - O'Neill, Brendan
AU  - O'Neill B
AD  - Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, 
      University of Texas Southwestern Medical Center, Dallas, Texas.
FAU - Simha, Vinaya
AU  - Simha V
FAU - Kotha, Vani
AU  - Kotha V
FAU - Garg, Abhimanyu
AU  - Garg A
LA  - eng
GR  - R01 DK 54387/DK/NIDDK NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Absorptiometry, Photon
MH  - Adolescent
MH  - Anthropometry
MH  - Body Composition
MH  - *Body Fat Distribution
MH  - Child
MH  - Female
MH  - Humans
MH  - Lipodystrophy, Congenital Generalized/*diagnosis/etiology
MH  - Magnetic Resonance Imaging
MH  - Pedigree
MH  - Progeria/complications/*metabolism/*pathology
MH  - Syndrome
EDAT- 2007/05/25 09:00
MHDA- 2007/09/29 09:00
CRDT- 2007/05/25 09:00
PHST- 2007/05/25 09:00 [pubmed]
PHST- 2007/09/29 09:00 [medline]
PHST- 2007/05/25 09:00 [entrez]
AID - 10.1002/ajmg.a.31840 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2007 Jul 1;143A(13):1421-30. doi: 10.1002/ajmg.a.31840.