Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Clinical features of macrocephaly at birth in Korea

  • Jeong, Goun (Department of Pediatrics, Cheil General Hospital & Women's Healthcare Center) ;
  • Kim, Minkyun (Department of Pediatrics, Cheil General Hospital & Women's Healthcare Center) ;
  • Han, Byoung Hee (Department of Radiology, Cheil General Hospital & Women's Healthcare Center)
  • Received : 2013.07.15
  • Accepted : 2013.08.27
  • Published : 2014.02.15
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Abstract

Purpose: This study aimed to investigate the clinical features of macrocephaly at birth in Korea using ultrasonography. Methods: We retrospectively investigated the medical records of full-term birth neonates in Cheil General Hospital & Women's Healthcare Center from January 2000 to June 2012. The following parameters were recorded and analyzed: gestational age, sex, birth weight, height, occipitofrontal circumference (OFC), physical examination, perinatal problems, and ultrasonography results. Macrocephaly was diagnosed when the OFC was greater than two standard deviations, based on the 2007 Korean National Growth Charts. Results: There were 75 neonates with macrocephaly at birth (52 boys and 23 girls), with a mean OFC of $38.1{\pm}0.49cm$. A comparison of the birth weight and height with the OFC value showed that height was correlated with OFC (r=0.35) but birth weight was not correlated with OFC (r=0.06). There were no remarkable findings in 56 cases (75%). Germinal matrix hemorrhage was identified in 10 cases (13%). An enlarged cerebrospinal fluid space was found in 5 cases (6.7%). There were 3 cases of mega-cisterna magna (4%), 1 case of ventriculomegaly, and 1 case of an enlarged interhemispheric space (6 mm) among these patients. In addition, a choroid plexus cyst was seen in 1 case. Mineralizing vasculopathy in both basal ganglia with no evidence of congenital infection was found in 2 cases and an asymptomatic subarachnoid hemorrhage was found in 1 case. Conclusion: Our results indicate that macrocephaly at birth has benign ultrasonography findings and shows a pattern of male dominance.

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References

  1. Lehman RK, Schor NF. Neurologic evaluation. In: Kliegman RM, Stanton BF, St. Geme JW III, Schor NF, Behrman RE, editors. Nelson textbook of pediatrics. 19th ed. Philadelphia: Elsevier/Saunders, 2011:e584-2.
  2. Fenichel GM. Clinical pediatric neurology: a signs and symptoms approach. 6th ed. Philadelphia: Saunders/Elsevier, 2009:369-84.
  3. Swaiman KF. Swaiman's pediatric neurology: principles and practice. 5th ed. Edinburgh: Elsevier Saunders, 2012:196-7.
  4. Petersson S, Pedersen NL, Schalling M, Lavebratt C. Primary megalencephaly at birth and low intelligence level. Neurology 1999;53:1254-9. https://doi.org/10.1212/WNL.53.6.1254
  5. Zahl SM, Wester K. Routine measurement of head circumference as a tool for detecting intracranial expansion in infants: what is the gain? A nationwide survey. Pediatrics 2008;121:e416-20. https://doi.org/10.1542/peds.2007-1598
  6. DeMeyer W. Megalencephaly in children. Clinical syndromes, genetic patterns, and differential diagnosis from other causes of megalocephaly. Neurology 1972;22:634-43. https://doi.org/10.1212/WNL.22.6.634
  7. Lorber J, Priestley BL. Children with large heads: a practical approach to diagnosis in 557 children, with special reference to 109 children with megalencephaly. Dev Med Child Neurol 1981;23: 494-504.
  8. DeMyer W. Megalencephaly: types, clinical syndromes, and management. Pediatr Neurol 1986;2:321-8. https://doi.org/10.1016/0887-8994(86)90072-X
  9. Gooskens RH, Willemse J, Faber JA, Verdonck AF. Macrocephalies: a differentiated approach. Neuropediatrics 1989;20:164-9. https://doi.org/10.1055/s-2008-1071284
  10. Bodensteiner JB, Chung EO. Macrocrania and megalencephaly in the neonate. Semin Neurol 1993;13:84-91. https://doi.org/10.1055/s-2008-1041111
  11. Garg BP, Walsh L. Clinical approach to the child with a large head. Indian J Pediatr 2001;68:867-71. https://doi.org/10.1007/BF02762115
  12. Moon JS, Lee SY, Nam CM, Choi JM, Choe BK, Seo JW, et al. 2007 Korean National Growth Charts: review of developmental process and an outlook. Korean J Pediatr 2008;51:1-25. https://doi.org/10.3345/kjp.2008.51.1.1
  13. Nellhaus G. Head circumference from birth to eighteen years. Practical composite international and interracial graphs. Pediatrics 1968;41:106-14.
  14. Roche AF, Mukherjee D, Guo SM, Moore WM. Head circumference reference data: birth to 18 years. Pediatrics 1987;79:706-12.
  15. Grummer-Strawn LM, Reinold C, Krebs NF; Centers for Disease Control and Prevention (CDC). Use of World Health Organization and CDC growth charts for children aged 0-59 months in the United States. MMWR Recomm Rep 2010;59(RR-9):1-15.
  16. Rollins JD, Collins JS, Holden KR. United States head circumference growth reference charts: birth to 21 years. J Pediatr 2010;156:907-13, 913.e1-2. https://doi.org/10.1016/j.jpeds.2010.01.009
  17. Aum JA, Jung HJ, Huh JW, Son SH. Analysis of anthropometric data for premature infants of 26 to 35 weeks of gestation; comparison with the data of 1960's. Korean J Pediatr 2007;50:543-8. https://doi.org/10.3345/kjp.2007.50.6.543
  18. Lee JJ. Birth weight for gestational age patterns by sex, plurality, and parity in Korean population. Korean J Pediatr 2007;50:732-9. https://doi.org/10.3345/kjp.2007.50.8.732
  19. Bosnjak V, Besenski N, Marusic-Della Marina B, Kogler A. Cranial ultrasonography in the evaluation of macrocrania in infancy. Dev Med Child Neurol 1989;31:66-75.
  20. Alper G, Ekinci G, Yilmaz Y, Arikan C, Telyar G, Erzen C. Magnetic resonance imaging characteristics of benign macrocephaly in children. J Child Neurol 1999;14:678-82. https://doi.org/10.1177/088307389901401010
  21. Muenchberger H, Assaad N, Joy P, Brunsdon R, Shores EA. Idiopathic macrocephaly in the infant: long-term neurological and neuropsychological outcome. Childs Nerv Syst 2006;22:1242-8. https://doi.org/10.1007/s00381-006-0080-0
  22. Malinger G, Lev D, Ben-Sira L, Hoffmann C, Herrera M, Vinals F, et al. Can syndromic macrocephaly be diagnosed in utero? Ultrasound Obstet Gynecol 2011;37:72-81. https://doi.org/10.1002/uog.8799
  23. Olney AH. Macrocephaly syndromes. Semin Pediatr Neurol 2007; 14:128-35. https://doi.org/10.1016/j.spen.2007.07.004
  24. Williams CA, Dagli A, Battaglia A. Genetic disorders associated with macrocephaly. Am J Med Genet A 2008;146A:2023-37. https://doi.org/10.1002/ajmg.a.32434
  25. Gartner JC, Zitelli BJ. Common & chronic symptoms in pediatrics: a companion to the atlas of pediatric physical diagnosis. London: Mosby, 1997:95-104.
  26. Alvarez LA, Maytal J, Shinnar S. Idiopathic external hydrocephalus: natural history and relationship to benign familial macrocephaly. Pediatrics 1986;77:901-7.
  27. Hellbusch LC. Benign extracerebral fluid collections in infancy: clinical presentation and long-term follow-up. J Neurosurg 2007; 107(2 Suppl):119-25.
  28. Hamza M, Bodensteiner JB, Noorani PA, Barnes PD. Benign extracerebral fluid collections: a cause of macrocrania in infancy. Pediatr Neurol 1987;3:218-21. https://doi.org/10.1016/0887-8994(87)90021-X
  29. Babcock DS, Han BK, Dine MS. Sonographic findings in infants with macrocrania. AJR Am J Roentgenol 1988;150:1359-65. https://doi.org/10.2214/ajr.150.6.1359
  30. Smith R, Leonidas JC, Maytal J. The value of head ultrasound in infants with macrocephaly. Pediatr Radiol 1998;28:143-6. https://doi.org/10.1007/s002470050315

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