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Berardinelli-Seip Congenital Lipodystrophy Berardinelli-Seip congenital lipodystrophy Author: Professor Lionel Van Maldergem1 Creation Date: November 2001 Scientific Editor: Professor Didier LACOMBE 1Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 41, Allée des Templiers, Loverval, 6280, Belgium. [email protected] Abstract Keywords Disease name and synonyms Excluded diseases Diagnostic criteria Differential diagnosis Prevalence Clinical description Management Handling Etiology Diagnostic methods Genetic counseling Prenatal diagnosis Unresolved questions References Abstract Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare autosomal recessive disorder determining the triad of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. It is associated with insulin resistance resulting in clinically overt diabetes mellitus with onset during the second decade. Complications include hypertrophic cardiomyopathy, a fatty liver with hepatic dysfunction, muscular hypertrophy and a number of endocrine disturbances (accelerated growth in infancy, precocious puberty, ...) and bone cysts with spontaneous fractures. There are at least three loci among which two are localized (BSCL1 in 9q34 and BSCL2 in 11q13) and one gene already cloned (seipin for BSCL2). Mental retardation is observed in a majority of BSCL2 patients. Treatment consists of low fat diet and handling of insulin resistance and diabetes. Keywords adipose tissue - diabetes mellitus - mental retardation - seipin - triglycerides -autosomal recessive inheritance. Disease name and synonyms syndrome have also been used, although the It is called Berardinelli-Seip syndrome after latter designates in principle the so-called Berardinelli from Brazil described the first acquired form. it is usually called lipoatrophic patients in 1954. The syndrome was confirmed diabetes in the United States. It has received the in 1959 in Norway were Seip described a new OMIM number 269700. Brunzell syndrome is the series of patients originating from the county of association of bone cysts and lipoatrophic Rogaland. In the European literature, the terms diabetes described in five affected African- generalized lipodystrophy, congenital Americans from the same sibship. A separate lipodystrophy or total lipodystrophy have also OMIM entry (272500) was given but it is now been coined. Seip syndrome, or Lawrence generally admitted that bone cysts represent a Van Maldergem, L., Berardinelli-Seip congenital lipodystrophy. Orphanet encyclopedia. November 2001. http://www.orpha.net/data/patho/GB/uk-berard.pdf 1 rare complication of Berardinelli-Seip congenital Differential diagnosis lipodystrophy (BSCL). In the infant Excluded diseases • Short syndrome. Slit lamp examination. • Lawrence syndrome Short stature. • Dunnigan partial lipodystrophy • Neonatal progeroid syndrome. Prominent • Barraquer-Simons syndrome veins of the scalp. Premature teeth. Pseudo • Partial congenital lipodystrophy with hydrocephaloid appearance. elevated C3 nephritic factor • Neurometabolic lysosomal storage disorder: • Rabson-Mendenhall syndrome Gaucher type 2, Krabbe disease. Abnormal • Launois-Bensaude syndrome neurological examination. • Wiedemann-Rautenstrausch Glucocerebrosidase and • SHORT syndrome galactocerebrosidase on peripheral • AIDS lipodystrophy leukocytes or cultured fibroblasts. • Russell diencephalic syndrome • Russell diencephalic syndrome. Brain MRI Diagnostic criteria In the child • Dunningan lipodystrophy. Spares the face. Major Cushingoid appearance. Mutations in the • Lipoatrophy affecting both trunk and limbs. lamin gene. Gives an athletic appearance, especially • Rabson-Mendenhall. Pure insulin-resistance when muscle hypertrophy is also syndrome present.Secondary phlebomegaly. • Insulin-dependent diabetes mellitus Involvement of the face (empty cheeks due to absence of Bichat's pads) may be absent In the adult at birth and appear during the first months of • Barraquer-Simons syndrome. Asymmetric. life. • AIDS. HIV testing • Acromegaloid features : it includes • Partial lipodystrophy. C3 nephritic factor prognathism, salient orbital ridges, enlarged • Lawrence syndrome hands and feet, macrogenitosomia, gigantism, muscular hypertrophy and Prevalence advanced bone age. Estimated at 1 per 12 millions by Garg in USA • Hepatomegaly secondary to fatty liver and, 1 per million in Norway in late course of the disease, cirrhosis. 1 per 200 000 in Lebanon • Elevated serum concentration of 1 per 500 000 in Portugal triglycerides (up to 80g /Liter), sometimes according to the number of registered cases of associated to hypercholesterolemia. the Berardinelli-Seip study group. • Insulin resistance : may be limited to Clinical description elevated serum concentration of insulin and C-peptide in the first years of life. Will usually Neonatal or infantile presentation determine overt clinical diabetes during the Severe forms may be of prenatal onset with second decade. Its early clinical expression intrauterine growth retardation. When diagnosed is acanthosis nigricans of the groins, neck at birth (rare), it is usually because of and axillae which may take, in some cases, lipoatrophy. Reason for referral in the first a verruquous appearence. months of life include failure to thrive, or conversely gigantism, hepatomegaly, Minor lipoatrophy, facial dysmorphia, enlarged tongue • Hypertrophic cardiomyopathy. May be or developmental delay. present in infancy or develop later in life. • Psychomotor or mental retardation. Affects a Juvenile presentation majority of BSCL2 patients. Mild (IQ 50-70) Accelerated growth, lipoatrophy or cognitive to moderate(IQ 35-50) impairment are major modes of presentation in • Hirsutism : low frontal and posterior early childhood while diabetes mellitus hairlines, hypertrichosis of the trunk manifested by weight loss, polydipsy, polyuria or • Precocious puberty in the female. asthenia is frequently the cause in the second • Bone cysts. Polycyclic appeareance on X- decade. rays. Located in epiphyseal and metaphyseal regions of long bones. Often diagnosed during the second decade. Van Maldergem, L., Berardinelli-Seip congenital lipodystrophy. Orphanet encyclopedia. November 2001. http://www.orpha.net/data/patho/GB/uk-berard.pdf 2 Adult presentation insufficient. The other drugs, including Presents rarely in early adulthood with diabetes fenfluramine, have no proven efficiency and mellitus. The plastic surgery clinic for cosmetic should be avoided. improvement of facial lipoatrophy, the cardiologic The patient will have to be followed in a clinics or gastroenterologic clinics may be also diabetology clinic for possible retinal, peripheral the first through which the patient comes to nerve and renal complications one outpatient medical attention. consultation every six months. Cardiac and liver ultrasound will have to be Management repeated every six months. Special education will be required for most Diagnostic work-up BSCL2 patients Family history, including a three generation pedigree and the locality of origin of the Etiology grandparents needs to be investigated. Specific Rare autosomal recessive disorder with at least questions on parental consanguinity should be three loci identified: asked for. BSCL1:prevalent in Africa, Maghreb and African Clinical examination includes the pubertal status populations from North America and Caribbean. according to Tanner's charts, a complete Also described in Western European neurological examination and search for signs of populations. Apparently less severe phenotype liver dysfunction and cardiac failure. Attention than BSCL2. Onset of lipoatrophy may being the must also be paid to possible orthopedics second or third decade. No or low frequency of problems (reduced hip mobility, genu valgum). mental retardation. Linkage to 9q34 established by an Anglo-American consortium in 1999. Addtitional investigations No gene with disease-causing mutation • Clinical chemistry : Complete blood count, identified up to now. electrolytes, serum glucose concentration, BSCL2:prevalent in Portugal and its ancient insulin, aspartate transaminase, alanine colonies, Lebanon and Norway. Lipoatrophy of transaminase, serum proteins and invariable neonatal onset. More severe than electrophoresis, urea, creatinine, C-peptide, BSCL1. A majority of patients (two-thirds) triglycerides, cholesterol, Oral glucose mentally retarded, especially those with a tolerance test. When appropriate : clamp nonsense or a splice-site mutation affecting the glucose homeostasis study, GH, IgG, A, M, first half of the gene. Missense mutations E, C3 nephritic factor, CH50, C3, C4, reportedly less harmful. In a recent survey of 45 apolipoproteins, hypothalamo-pituitary BSCL2 patients, 7 premature deaths were dynamic tests. observed, from heart and liver failure. Through • Cardiac ultrasound the study of patients from an international • Liver ultrasound consortium, a gene has been cloned in 2001. It • Skeletal survey, especially long bones. encodes a protein of unknown function, mainly Search for osteopenia and bone cysts. Bone expressed in the brain, termed seipin (Magré et age maturation al 2001) • Kidney ultrasound BSCL3:some rare families appear unlinked to • Complete ophtalmological examination, neither 11q13 nor 9q34. If we also consider a including biomicroscopy and slit lamp patient with unconclusive segregation study, it examination seems associated with a severe phenotype (two • Wechsler testing of IQ premature deaths at 16 months and 7 years in • DNA testing ( search for a BSCL2 mutation
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