Donohue Sendromu Leprechaunism : Vaka Sunumu

Year 2012, , 189 - 192, 01.10.2012

Engin Tutar Ayşe Karakaş Perran Boran Berkin Berk Serçin Bayar Güven

https://doi.org/10.5222/j.child.2012.189

Abstract

Donohue sendromu Leprechaunism çok ender görülen ve otozomal resesif olarak kalıtılan genetik bir hastalıktır. Fetal yaşam ve sonrasını da etkileyen insülin reseptör genindeki mutasyona bağlı olarak görülür. Melek yüzü, hipertrikoz, akantozis nigrikans, ciltaltı yağ dokusunda azalma, intrauterin ve postnatal büyüme geriliği ile karakterizedir. Tanı klinik muayene ve destekleyici laboratuvar tetkikleri ile konulur. Kesin tanı ise insülin reseptör geninde ilişkili mutasyonların gösterilmesi ile olasıdır. Genellikle prognozu kötüdür, hastalar erken yaşta kaybedilir. Bu makalede, çok ender gözlenmesi nedeniyle, glukoz metabolizması bozukluğu yanında diğer endokrin patolojilerin de eşlik ettiği Donohue sendromu tanısı alan 57 günlük bir erkek bebek sunulmuştur.

Keywords

Donohue sendromu, Leprechaunism, insülin reseptör geni, hiperinsülinemi

Donohue Syndrome Leprechaunism : A Case Report

Abstract

Donohue syndrome Leprechaunism is an extremely rare, autosomal recessively inherited genetic disease. It is caused by mutations at the insulin receptor gene, which has a profound effect during fetal development and thereafter. It is characterized by elfin face, hypertrichosis, acanthosis nigricans, reduced subcutaneous fat, and intrauterine and postnatal growth retardation. Diagnosis is established according to the physical examination and laboratory investigations. Definitive diagnosis is possible with demonstration of the mutations at the insulin receptor gene. The prognosis is usually grave, most of them die early in infancy. In this paper, a 57 day- old male diagnosed with Donohue syndrome, who had other endocrine pathologies besides abnormal glucose metabolism, is presented due to its very rare occurrence.

Keywords

Donohue syndrome, Leprechaunism, insulin receptor gene, hyperinsulinism

References

• moller D, rahilly S. Leprechaunism. in: Moller D, ed. Insulin Resistance. 1st ed. England: Willey, 1993, 59-61. PMid:8418473
• Donohue WL. Clinicopathologic conference at the hospital for sick children dysendocrinism. J Pediatr 1948;32:739-48. http://dx.doi.org/10.1016/S0022-3476(48)80231-3
• Leprechaunism: An inherited defect in a high-affinity insulin receptor. Am J Hum Genet 1985;37:73-88. PMid:3883764 PMCid:1684537 mes and implications. N Engl J Med 1991;325:938-8. http://dx.doi.org/10.1056/NEJM199109263251307 PMid:1881419
• Imano E, et al. Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance. Adv Exp Med Biol 1991;293:197-213. http://dx.doi.org/10.1007/978-1-4684-5949-4_19 PMid:1767731 rare familial disorder. J Pediatr 1954;45:505-19. http://dx.doi.org/10.1016/S0022-3476(54)80113-2
• E. Donohue syndrome in a neonate with homozygous deletion of exon 3 of the insulin receptor gene. J Pediatr Endocrinol Metab 2009;22:669-74. http://dx.doi.org/10.1515/JPEM.2009.22.7.669 PMid:19774849
• MJ, rubenstein A. Cutaneous manifestations of leprechau- nism. Arch Dermatol 1981;117:531-5. http://dx.doi.org/10.1001/archderm.1981.01650090013015 PMid:7294844 model for quaternary structure of human placental insulin receptor deduced from electron microscopy. Proc Natl Acad Sci USA 1991;88:249-52. http://dx.doi.org/10.1073/pnas.88.1.249 PMid:1986371 PMCid:50787 et al. The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signaling. Cell ;40:747-58. http://dx.doi.org/10.1016/0092-8674(85)90334-4
• Dull TJ, et al. Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes. Nature 1985;313:756- http://dx.doi.org/10.1038/313756a0 PMid:2983222 in the insulin receptor and their effect on glucose transport.
• Trans Assoc Am Physicians 1992;105:204-13. PMid:1308998 tes mellitus. in Scriver CR, Beaudet AL, Sly WS, Valle D
• (eds). The metabolic and molecular bases of inherited disease, th ed. New York: McGraw-Hill, 2000, 1433-70.
• Kadowaki T, Narita T, et al. Phenotypical variety of insulin resistance in a family with a novel mutation of the insulin receptor gene. Endocr 2010;57:509-16. http://dx.doi.org/10.1507/endocrj.K09E-339
• Coşkun T, et al. Leprechaunism in two Turkish patients. Turk J Pediatr 1997;39:387-93. PMid:9339119 maximilian C. Leprechaunism: Report of two cases and revi- ew. Endocrinologie 1988;26:205-9.
• Fujieda K. Long-term effect of recombinant human insulin- like growth factor I on metabolic and growth control in a patient with leprechaunism. J Clin Endocrinol Metab ;83:542-9. http://dx.doi.org/10.1210/jc.83.2.542 PMid:9467572
• Sakamoto Y, Kadowaki T, et al. Trial of insulin-like growth factor 1 therapy for patients with extreme insulin resistance syndromes. Diabetes 1993;42:696-705. http://dx.doi.org/10.2337/diabetes.42.5.696 PMid:8482426