| CASE REPORT |
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| Year : 2014 | Volume
: 20
| Issue : 1 | Page : 75-78 |
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Berardinelli-Seip syndrome type 1 in an Egyptian child
Kotb Abbass Metwalley, Hekma Saad Farghaly
Department of Pediatrics, Pediatric Endocrinology Unit, Faculty of Medicine, Assiut University, Assiut, Egypt
Correspondence Address:
Kotb Abbass Metwalley
Department of Pediatrics, Pediatric Endocrinology Unit, Faculty of Medicine, Assiut University, Assiut
Egypt
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/0971-6866.132762
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Berardinelli-Seip syndrome type 1 or Berardinelli-Seip congenital lipodystrophy 1 (BSCL1) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. Its prevalence in Egypt is not known. Here, we report case of a 12-year-old Egyptian boy with the clinical, metabolic and molecular genetics manifestations of BSCL1 including overt diabetes mellitus. |
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