Abstract
We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, and was later stable at 2-3 cm above the 97.5th centile. Her development was characterised by psychomotor delay, epilepsy, and autistic features. Her face appeared mildly dysmorphic with a large forehead, short philtrum, and bushy eyebrows. Her younger sister was also born at term with birth weight 2600 g and OFC 34 cm (25th centile). She also developed postnatal macrocephaly with OFC 2 cm above the 97.5th centile and the same mild dysmorphic facial features as her sister. Her development was also characterised by psychomotor delay, autistic features, and epilepsy. In addition, she suffered from coeliac disease. She died unexpectedly at the age of 5 years, probably from an epileptic attack. Necropsy confirmed megalencephaly but no other pathological changes were found. The clinical features in these two sisters do not fit with any known syndrome and may represent a previously unrecognised autosomal recessive disorder.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bushby K. M., Cole T., Matthews J. N., Goodship J. A. Centiles for adult head circumference. Arch Dis Child. 1992 Oct;67(10):1286–1287. doi: 10.1136/adc.67.10.1286. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Buttiens M., Fryns J. P., van den Berghe H. An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation. Clin Genet. 1989 Dec;36(6):451–455. doi: 10.1111/j.1399-0004.1989.tb03375.x. [DOI] [PubMed] [Google Scholar]
- Cole T. R., Hughes H. E. Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet. 1994 Jan;31(1):20–32. doi: 10.1136/jmg.31.1.20. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Coppoletta J. M., Wolbach S. B. Body Length and Organ Weights of Infants and Children: A Study of the Body Length and Normal Weights of the More Important Vital Organs of the Body between Birth and Twelve Years of Age. Am J Pathol. 1933 Jan;9(1):55–70. [PMC free article] [PubMed] [Google Scholar]
- Dickey W. Epilepsy, cerebral calcifications, and coeliac disease. Lancet. 1994 Dec 10;344(8937):1585–1586. doi: 10.1016/s0140-6736(94)90400-6. [DOI] [PubMed] [Google Scholar]
- Fryns J. P., Dereymaeker A. M., Haegeman J., van den Berghe H. Mental retardation, macrocephaly, short stature and craniofacial dysmorphism in three sisters. A new entity among the mental retardation-macrocephaly syndromes? Clin Genet. 1988 Apr;33(4):293–298. doi: 10.1111/j.1399-0004.1988.tb03451.x. [DOI] [PubMed] [Google Scholar]
- Fryns J. P., Hellemans M., Van den Berghe H. Macrocephaly, distinct craniofacial appearance and spastic paraplegia: an autosomal recessive subtype of complicated spastic paraplegia. Clin Genet. 1994 May;45(5):228–230. doi: 10.1111/j.1399-0004.1994.tb04146.x. [DOI] [PubMed] [Google Scholar]
- Leestma J. E., Walczak T., Hughes J. R., Kalelkar M. B., Teas S. S. A prospective study on sudden unexpected death in epilepsy. Ann Neurol. 1989 Aug;26(2):195–203. doi: 10.1002/ana.410260203. [DOI] [PubMed] [Google Scholar]
- Nashef L., Walker F., Allen P., Sander J. W., Shorvon S. D., Fish D. R. Apnoea and bradycardia during epileptic seizures: relation to sudden death in epilepsy. J Neurol Neurosurg Psychiatry. 1996 Mar;60(3):297–300. doi: 10.1136/jnnp.60.3.297. [DOI] [PMC free article] [PubMed] [Google Scholar]