Systematic Reviews and Meta Analysis
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A Case of Total Lipodystrophy Syndrome Associated with Chromosomal Anomaly

Year 1970, Volume: 23 Issue: 3, 784 - 796, 30.06.1970

Binnaz Ege

Abstract

Bu çalışmada kromozom anomalisiyle birlikte görülen nadir bir total lipodystrophy vak’ası sunulmuştur. Hastada sübkütan yağ dokusunun tamamen kaybolması, hepatosplenomegali, kardiomegali, nefromegali, hirsutizm, pigmentasyon bozuklukları, akantosis nigrikans ve belirgin adale görünümü izlenmiştir. Klinik bulgulara hipermetabolizma semptomları, mental gerilik, konuşma güçlüğü ve kromozom bozukluğu eşlik etmektedir. Laboratuvar ve radyolojik incelemelerle konjenital total lipodystrophy tanısı desteklenmiştir. Literatür gözden geçirilerek olası etiyolojik faktörler tartışılmıştır.

References

  • 1 - BROWN, E. E.: Progressive lipodystrophy following infection Arch. of Pediatrics 75: 227, 1958.
  • 2 - FOWLER, P. B. S.: Lipodystrophia progressiva and temporary hydronephrosis. Brit. Med. J. 1: 1249, 1955.
  • 3 - GELLIS, S. S., GREEN S., WALKER, D.: Chronic renal disease in children with lipodystrophy. J. Dis. of Children 96: 605, 1958.
  • 4 - HALL, B. E., SUNDERMAN, F. W., GITTING J. C.: Congenital muscular hypertrophy. Am. J. Dis. of Children 52: 773, 1936.
  • 5 - HARRIS, J. S., REISER, R.: Lipodystrophy. Report of a case with metabolic studies. Am. J. Dis. of Children 59: 143, 1940.
  • 6 - HAWES, C. R., JOHNSON, F. C., PALMER, H. D.: Progressive hypothalamic dysfunction. J. of Pediatrics 45: 393, 1954.
  • 7 - IGERSHEIMER, W. W.: Progressive lipodystrophy. Etiologic aspects and report of a case. Am. J. Dis. of Children 775: 2061, 1948.
  • 8 - JOLLIFF, J. W., CRAIG, F. W.: Lipoatrophic diabetes and mental illness in three siblings. Diabetes 16: 708, 1967.
  • 9 - JONES, E.: Progressive lipodystrophy. Brit. Med. J. 1: 313, 1956.
  • 10 - LAWRENCE, R. D.: Lipodystrophy and hepatomegaly with diabetes, lipemia, and other metabolic disturbances. Lancet 1: 724, 1946.
  • 11 - LOUIS, L. H., MINICH, M. C., CONN, J. W.: Lipoatrophic diabetes, isolation from urine of a potent adipokinetic substance. J. Lab. Clin. Med. 56: 924, 1960.
  • 12 - MCNEILL, A. D.: Progressive lipodystrophy. Brit. J. of Surgery 53: 216, 1966.
  • 13 - MURRAY, J.: Lipodystrophy. Brit. Med. J. 2: 1236, 1952.
  • 14 - NELSON, W. E., VAUGHAN, V. C., MCKAY, R. J.: Textbook of Pediatrics. W. B. Saunders Co., 9th Ed. p:1397, 1969.
  • 15 - POLEY, J. R., STICKLER, G. B.: Progressive lipodystrophy. A clinical study of 50 patients. Am. J. Dis. of Children 106: 356, 1963.
  • 16 - RUVALCABA, R. H. A., SAMOLS, E., KELLEY, V. C.: Lipoatrophic diabetes. Am. J. Dis. of Children 109: 279, 1965.
  • 17 - SEIP, M., TRYGSTAD, O.: Generalized lipodystrophy. Arch. Dis. Childh. 38: 447, 1963.
  • 18 - SENIOR, B.: Lipodystrophic muscular hypertrophy. Arch. Dis. Childh. 36: 426, 1961.
  • 19 - SENIOR, B., GELLIS, S. S.: The syndromes of total and partial lipodystrophy. Pediatrics 33: 593, 1964.
  • 20 - SENIOR, B., LORIDAN, L.: Fat cell function and insulin in generalized lipodystrophy. J. Pediatrics 74: 972, 1969.
  • 21 - STEINBERG, T., GWINUP, G.: Lipodystrophy. A variant of lipoatrophic diabetes. Diabetes 16: 715, 1967.
  • 22 - TAYLOR, W. B., HONEYCUTT, W. M.: Progressive lipodystrophy and lipoatrophic diabetes. Arch. Dermatology 84: 31, 1961.
  • 23 - WESENBERG, R. L., GWINN, J. L., BARNES, G. R.: Radiographic findings in total lipodystrophy. Am. J. Roentgenology 103: 154, 1968.

Kromozom Anomalisi ile Birlikte Olan Total Lipodystrophy Sendromu

Year 1970, Volume: 23 Issue: 3, 784 - 796, 30.06.1970

Binnaz Ege

Abstract

A rare case of total lipodystrophy syndrome accompanied by chromosomal anomaly is presented. The patient exhibits complete absence of subcutaneous fat, hepatosplenomegaly, cardiomegaly, nephromegaly, hirsutism, pigmentation abnormalities, acanthosis nigricans, and prominent musculature. Clinical findings also include hypermetabolism symptoms, mental retardation, speech difficulties, and abnormal chromosomal pattern. Laboratory and radiological evaluations confirm typical manifestations of congenital total lipodystrophy. The discussion reviews historical cases and explores possible etiological theories.

Keywords

Total lipodystrophy Chromosomal anomaly Subcutaneous fat loss Hepatosplenomegaly Hypermetabolism

References

  • 1 - BROWN, E. E.: Progressive lipodystrophy following infection Arch. of Pediatrics 75: 227, 1958.
  • 2 - FOWLER, P. B. S.: Lipodystrophia progressiva and temporary hydronephrosis. Brit. Med. J. 1: 1249, 1955.
  • 3 - GELLIS, S. S., GREEN S., WALKER, D.: Chronic renal disease in children with lipodystrophy. J. Dis. of Children 96: 605, 1958.
  • 4 - HALL, B. E., SUNDERMAN, F. W., GITTING J. C.: Congenital muscular hypertrophy. Am. J. Dis. of Children 52: 773, 1936.
  • 5 - HARRIS, J. S., REISER, R.: Lipodystrophy. Report of a case with metabolic studies. Am. J. Dis. of Children 59: 143, 1940.
  • 6 - HAWES, C. R., JOHNSON, F. C., PALMER, H. D.: Progressive hypothalamic dysfunction. J. of Pediatrics 45: 393, 1954.
  • 7 - IGERSHEIMER, W. W.: Progressive lipodystrophy. Etiologic aspects and report of a case. Am. J. Dis. of Children 775: 2061, 1948.
  • 8 - JOLLIFF, J. W., CRAIG, F. W.: Lipoatrophic diabetes and mental illness in three siblings. Diabetes 16: 708, 1967.
  • 9 - JONES, E.: Progressive lipodystrophy. Brit. Med. J. 1: 313, 1956.
  • 10 - LAWRENCE, R. D.: Lipodystrophy and hepatomegaly with diabetes, lipemia, and other metabolic disturbances. Lancet 1: 724, 1946.
  • 11 - LOUIS, L. H., MINICH, M. C., CONN, J. W.: Lipoatrophic diabetes, isolation from urine of a potent adipokinetic substance. J. Lab. Clin. Med. 56: 924, 1960.
  • 12 - MCNEILL, A. D.: Progressive lipodystrophy. Brit. J. of Surgery 53: 216, 1966.
  • 13 - MURRAY, J.: Lipodystrophy. Brit. Med. J. 2: 1236, 1952.
  • 14 - NELSON, W. E., VAUGHAN, V. C., MCKAY, R. J.: Textbook of Pediatrics. W. B. Saunders Co., 9th Ed. p:1397, 1969.
  • 15 - POLEY, J. R., STICKLER, G. B.: Progressive lipodystrophy. A clinical study of 50 patients. Am. J. Dis. of Children 106: 356, 1963.
  • 16 - RUVALCABA, R. H. A., SAMOLS, E., KELLEY, V. C.: Lipoatrophic diabetes. Am. J. Dis. of Children 109: 279, 1965.
  • 17 - SEIP, M., TRYGSTAD, O.: Generalized lipodystrophy. Arch. Dis. Childh. 38: 447, 1963.
  • 18 - SENIOR, B.: Lipodystrophic muscular hypertrophy. Arch. Dis. Childh. 36: 426, 1961.
  • 19 - SENIOR, B., GELLIS, S. S.: The syndromes of total and partial lipodystrophy. Pediatrics 33: 593, 1964.
  • 20 - SENIOR, B., LORIDAN, L.: Fat cell function and insulin in generalized lipodystrophy. J. Pediatrics 74: 972, 1969.
  • 21 - STEINBERG, T., GWINUP, G.: Lipodystrophy. A variant of lipoatrophic diabetes. Diabetes 16: 715, 1967.
  • 22 - TAYLOR, W. B., HONEYCUTT, W. M.: Progressive lipodystrophy and lipoatrophic diabetes. Arch. Dermatology 84: 31, 1961.
  • 23 - WESENBERG, R. L., GWINN, J. L., BARNES, G. R.: Radiographic findings in total lipodystrophy. Am. J. Roentgenology 103: 154, 1968.
There are 23 citations in total.

Details

Primary Language English
Subjects Pediatric Genetic Illnesses
Journal Section Articles
Authors

Binnaz Ege This is me

Publication Date June 30, 1970
Published in Issue Year 1970 Volume: 23 Issue: 3

Cite

APA Ege, B. (1970). Kromozom Anomalisi ile Birlikte Olan Total Lipodystrophy Sendromu. Ankara Üniversitesi Tıp Fakültesi Mecmuası, 23(3), 784-796.
AMA Ege B. Kromozom Anomalisi ile Birlikte Olan Total Lipodystrophy Sendromu. Ankara Üniversitesi Tıp Fakültesi Mecmuası. June 1970;23(3):784-796.
Chicago Ege, Binnaz. “Kromozom Anomalisi Ile Birlikte Olan Total Lipodystrophy Sendromu”. Ankara Üniversitesi Tıp Fakültesi Mecmuası 23, no. 3 (June 1970): 784-96.
EndNote Ege B (June 1, 1970) Kromozom Anomalisi ile Birlikte Olan Total Lipodystrophy Sendromu. Ankara Üniversitesi Tıp Fakültesi Mecmuası 23 3 784–796.
IEEE B. Ege, “Kromozom Anomalisi ile Birlikte Olan Total Lipodystrophy Sendromu”, Ankara Üniversitesi Tıp Fakültesi Mecmuası, vol. 23, no. 3, pp. 784–796, 1970.
ISNAD Ege, Binnaz. “Kromozom Anomalisi Ile Birlikte Olan Total Lipodystrophy Sendromu”. Ankara Üniversitesi Tıp Fakültesi Mecmuası 23/3 (June1970), 784-796.
JAMA Ege B. Kromozom Anomalisi ile Birlikte Olan Total Lipodystrophy Sendromu. Ankara Üniversitesi Tıp Fakültesi Mecmuası. 1970;23:784–796.
MLA Ege, Binnaz. “Kromozom Anomalisi Ile Birlikte Olan Total Lipodystrophy Sendromu”. Ankara Üniversitesi Tıp Fakültesi Mecmuası, vol. 23, no. 3, 1970, pp. 784-96.
Vancouver Ege B. Kromozom Anomalisi ile Birlikte Olan Total Lipodystrophy Sendromu. Ankara Üniversitesi Tıp Fakültesi Mecmuası. 1970;23(3):784-96.