Öz
Makrosefali baş çevresinin ortalamanın iki standart sapma veya 98 persentil üzerinde olmasıdır. Ailesel olgular hariç makrosefali genellikle çeşitli derecelerde nörolojik işlev bozukluğu ile birliktedir. Hipomelanosis Ito tek taraflı veya iki taraflı halkasal, çizgisel veya yama tarzında hipopigmente lekelerle kendini gösteren bir nörokütanöz bozukluktur. Hastaların yarıdan fazlasında nörolojik ve kas-iskelet sistemi tutulumu bulunur. Bu yazıda yenidoğan döneminde makrosefali ile başvuran ve takiplerinde hipomelanozis Ito tanısı alan bir olgu sunuldu.
Anahtar Kelimeler
Kaynakça
- DeMyer William. Megalencephaly: types, clinical syndromes, and management. Pediatr Neurol 1986;2(6):321-8.
- Olney AH. Macrocephaly syndromes. Semin Pediatr Neurol 2007;14(3):128-35.
- Pascual-Castroviejo I, Lopez-Rodriguez L, de la Cruz Medina M, Salamanca-Maesso C, Roche Herrero C. Hypomelanosis of Ito. Neurological complications in 34 cases. Can J Neurol Sci 1988;15(2):124-9.
- Nevo Y, Kramer U, Shinnar S, Leitner Y, Fattal-Valevski A, Villa Y, et al. Macrocephaly in children with developmental disabilities. Pediatr Neurol 2002;27(5):363-8.
- Williams CA, Dagli A, Battaglia A. Genetic disorders associated with macrocephaly. Am J Med Genet Part A 2008;146A(15):2023- 37.
- Courchesne E, Carper R, Akshoomoff N. Evidence of brain over- growth in the first year of life in autism. JAMA 2003;290(3):337- 44.
- Pascual-Castroviejo I, Roche C, Martinez-Bermejo A, Arcas J, Lo- pez-Martin V, Tendero A, et al. Hypomelanosis of ITO. A study of 76 infantile cases. Brain Dev 1998;20(1):36-43.
- Gordon N. Hypomelanosis of Ito (Incontinentia pigmenti achromi- ans). Dev Med Child Neurol 1994; 36(3):271-4. Araknoid kistler
Öz
Macrocephaly is defined as a head circumference that exceeds the mean by more than two standard deviations or is above the 98th percentile. Except familial ones, macrocephaly frequently has been associated with various degrees of neurological dysfunction. Hypomelanosis of Ito is a neurocutaneous disorder characterized by unilateral or bilateral macular hypopigmented whorls, streaks and patches. Abnormalities of the central nervous system and musculoskletal system may also be present in more than half of the cases. We report a newborn case presenting with macrocephaly after than diagnosed as hypomelanosis of Ito
Anahtar Kelimeler
Kaynakça
- DeMyer William. Megalencephaly: types, clinical syndromes, and management. Pediatr Neurol 1986;2(6):321-8.
- Olney AH. Macrocephaly syndromes. Semin Pediatr Neurol 2007;14(3):128-35.
- Pascual-Castroviejo I, Lopez-Rodriguez L, de la Cruz Medina M, Salamanca-Maesso C, Roche Herrero C. Hypomelanosis of Ito. Neurological complications in 34 cases. Can J Neurol Sci 1988;15(2):124-9.
- Nevo Y, Kramer U, Shinnar S, Leitner Y, Fattal-Valevski A, Villa Y, et al. Macrocephaly in children with developmental disabilities. Pediatr Neurol 2002;27(5):363-8.
- Williams CA, Dagli A, Battaglia A. Genetic disorders associated with macrocephaly. Am J Med Genet Part A 2008;146A(15):2023- 37.
- Courchesne E, Carper R, Akshoomoff N. Evidence of brain over- growth in the first year of life in autism. JAMA 2003;290(3):337- 44.
- Pascual-Castroviejo I, Roche C, Martinez-Bermejo A, Arcas J, Lo- pez-Martin V, Tendero A, et al. Hypomelanosis of ITO. A study of 76 infantile cases. Brain Dev 1998;20(1):36-43.
- Gordon N. Hypomelanosis of Ito (Incontinentia pigmenti achromi- ans). Dev Med Child Neurol 1994; 36(3):271-4. Araknoid kistler
Ayrıntılar
| Diğer ID | JA37BK45JM |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Ağustos 2011 |
| Gönderilme Tarihi | 1 Ağustos 2011 |
| Yayımlandığı Sayı | Yıl 2011 Cilt: 5 Sayı: 2 |