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Mikrosefalili olgularımızın etiyolojik, klinik ve laboratuvar bulgularının değerlendirilmesi: retrospektif klinik çalışma

Evaluation of etiological, clinical and laboratory findings of our cases with microcephaly: a retrospective clinical study

Journal Name:

  • Gülhane Tıp Dergisi

Publication Year:

  • 2005

Key Words:

Keywords (Original Language):

Author Name
Abstract (2. Language): 
Microcephaly is described as a head circumference below the third centile or -2 standard deviation at standards constituted according to the age and gender. Microcephaly may either be primary or secondary. Primary microcephaly encompasses conditions, in which the brain is originally small, whereas secondary microcephaly describes conditions, in which the brain has been formed normally but its growth has been disrupted by a disease process. Head circumference is, thus, usually normal at birth. Microcephaly may result from various factors such as environmental ones (radiation, alchol and drug intake, etc), chromosomal disorders, isolated autosomal recessive inherited genetical disorders, metabolic diseases, neuronal migration anomalies, and craniosynostosis. Cerebral cortex, constituting the 55% of brain is seriously and negatively affected particularly in cases with primary microcephaly since the scull remains small and restricts the growth of the brain tissue. Mental retardation, intellectual problems and epilepsia may occur. Increase in our knowledge about microcephaly will greatly affect prognosis and make prenatal consulting possible. Thus, we aimed to interview the etiological, clinical and laboratory findings of our microcephalic patients.
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Abstract (Original Language): 
Mikrosefali, baş çevresinin yaşa ve cinse göre oluşturulan standartlarda üç persentil veya -2 standart deviyasyonun altında olmasıdır. Mikrosefali, primer veya sekonder olarak ortaya çıkabilir. Primer mikrosefali, beynin küçük olduğu durumları ifade ederken, sekonder mikrosefali beynin normal olarak geliştiği fakat bir hastalık sebebi ile gelişmenin bozulduğu durumları ifade etmektedir. Sekonder mikrosefalide çoğunlukla doğumdaki baş çevresi normaldir. Mikrosefali, çevresel nedenler (radyasyon, alkol, ilaç alımı, vs), kromozomal bozukluklar, izole otozomal resesif geçişli genetik bozukluklar, metabolik hastalıklar, nöronal migrasyon anomalileri ve kraniyosinostozis gibi çok çeşitli faktörlere bağlı olarak ortaya çıkabilmektedir. Mikrosefalik olgularda kafatası küçük kaldığı ve beyin gelişimine izin vermediği için beynin %55'ini oluşturan korteks, primer mikrosefalili olgularda daha ağır olmak üzere, ciddi şekilde etkilenmektedir. Sonuçta mental retardasyon, öğrenme güçlüğü ve epilepsi ortaya çıkabilmektedir. Mikrosefali ile ilgili verilerin bilinmesi, prognozu önemli derecede etkileyecek ve prenatal danışmanlık imkanı sağlayacaktır. Bu nedenle çalışmamızda mikrosefalili olgularımızın etiyolojik, klinik ve laboratuvar bulgularını incelemeyi amaçladık.
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  • 4
286-289
  • Turkish

REFERENCES

References: 

1 Nellhaus G. Head circumference from
birth to eighteen years. Practical composite
international and interracial graphs. Pediatrics 1968; 41: 106-114.
2. Ahlfors K, Ivarsson SA, Bjerre I. Microcephaly and congenital cytome-galovirus
infection: a combined prospective and retrospective study of a Swedish infant population. Pediatrics 1986; 78: 1058-1063.
3. Cohen T, Zeitune M, McGillivray BC, et
al. Segregation analysis of microcephaly.
Am J Med Genet 1996; 65: 226-234.
4. Woods CG. Human microcephaly. Curr
Opin Neurobiol 2004; 14: 112-117.
5. Rosenberg MJ, Agarwala R, Bouffard G, et
al. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat
Genet 2002; 32: 175-179.
6. Mochida GH, Walsh CA. Molecular genetics of human microcephaly. Curr Opin
Neurol 2001; 14: 151-156.
7. Þaylý BS, Tekþen F. Mikrosefali ve tekrarlama riski. Türk Hijyen ve Deneysel Biyoloji
Dergisi 1994; 51: 63-66.
8. Gressens P. Mechanisms and disturbances
of neuronal migration. Pediatr Res 2000;
48: 725-730.
9. Ivanovic DM, Leiva BP, Perez HT, et al.
Head size and intelligence, learning, nutritional status and brain development. Head,
IQ, learning, nutrition and brain. Neuropsychologia 2004; 42: 1118-1131.
10. Dolk H. The predictive value of microcephaly during the first year of life for mental retardation at seven years. Dev MedCilt 47 · Sayý 4 · Gülhane TD Mikrosefalili olgularýmýz · 289
Child Neurol 1991; 33: 974-983.
11. Chenn A, Walsh CA. Regulation of cerebral
cortical size by control of cell cycle exit in
neural precursors. Science 2002; 297: 365-
369.
12. Fotaki V, Dierssen M, Alcantara S, et al.
Dyrk1A haploinsufficiency affects viability
and causes developmental delay and abnormal brain morphology in mice. Mol Cell
Biol 2002; 22: 6636-6647.
13. Nulman I, Rovet J, Altmann D, Bradley C,
Einarson T, Koren G. Neurodevelopment
of adopted children exposed in utero to
cocaine. CMAJ 1994; 151: 1591-1597.
14. Hoppen T, Eis-Hubinger AM, Schild RL,
et al. Intrauterine herpes simplex virus
infection. Klin Padiatr 2001; 213: 63-68
(Eng Abstr.).
15. Wolf MJ, Wolf B, Bijleveld C, Beunen G,
Casaer P. Acquired microcephaly after low
Apgar score in Zimbabwe. J Trop Pediatr
1999; 45: 281-286.
16. Lucchi L, Covelli V, Petkov VV, Spano PF,
Trabucchi M. Effects of ethanol, given during pregnancy, on the offspring dopaminergic system. Pharmacol Biochem Behav
1983; 19: 567-570.
17. Cadle RG, Dawson T, Hall BD. The prevalence of genetic disorders, birth defects and
syndromes in central and eastern Kentucky.
J Ky Med Assoc 1996; 94: 237-241.
18. Mercuri E, Ricci D, Cowan FM, et al. Head
growth in infants with hypoxic-ischemic
encephalopathy: correlation with neonatal
magnetic resonance imaging. Pediatrics
2000; 106: 235-243.
19. Chiriboga CA, Kuban KC, Durkin M, et al.
Factors associated with microcephaly at
school age in a very-low-birthweight population. Dev Med Child Neurol 2003; 45:
796-801.
20. Epps RE, Pittelkow MR, Su WP. TORCH
syndrome. Semin Dermatol 1995; 14: 179-
186.
21. Mostoufi-zadeh M, Driscoll SG, Biano SA,
Kundsin RB. Placental evidence of
cytomegalovirus infection of the fetus and
neonate. Arch Pathol Lab Med 1984; 108:
403-406.
22. Istas AS, Demmler GJ, Dobbins JG,
Stewart JA. Surveillance for congenital
cytomegalovirus disease: a report from the
National Congenital Cytomegalovirus
Disease Registry. Clin Infect Dis 1995; 20:
665-670.
23. Jara M, Hsu HW, Eaton RB, Demaria A Jr.
Epidemiology of congenital toxoplasmosis
identified by population-based newborn
screening in Massachusetts. Pediatr Infect
Dis J 2001; 20: 1132-1135.
24. Angelastro JM, Ignatova TN, Kukekov VG,
et al. Regulated expression of ATF5 is
required for the progression of neural progenitor cells to neurons. J Neurosci 2003;
23: 4590-4600.
25. Wong V. Neurodegenerative diseases in
children. Hong Kong Med J 1997; 3: 89-95.
26. Matalon KM, Acosta PB, Azen C. Role of
nutrition in pregnancy with phenylketonuria and birth defects. Pediatrics 2003;
112: 1534-1536.
27. Cohen MM Jr. Etiopathogenesis of craniosynostosis. Neurosurg Clin N Am 1991;
2: 507-513.
28. Gaily EK, Granstrom ML, Hiilesmaa VK,
Bardy AH. Head circumference in children
of epileptic mothers: contributions of drug
exposure and genetic background. Epilepsy
Res 1990; 5: 217-222.
29. Abdel-Salam GM, Halasz AA, Czeizel AE.
Association of epilepsy with different
groups of microcephaly. Dev Med Child
Neurol 2000; 42: 760-767.
30. Sanghvi JP, Rajadhyaksha SB, Ursekar M.
Spectrum of congenital CNS malformations in pediatric epilepsy. Indian Pediatr
2004; 41: 831-838.
31. Chawla S, Aneja S, Kashyap R, Mallika V.
Etiology and clinical predictors of
intractable epilepsy. Pediatr Neurol 2002;
27: 186-191.
32. Rantala H, Shields WD, Christenson PD,
et al. Risk factors of infantile spasms compared with other seizures in children under
2 years of age. Epilepsia 1996; 37: 362-36.

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