Abstract
The co-occurrence of microcephaly and Legg–Calvè–Perthes disease (LCPD) in members of the same family has been previously recorded only in two Hungarian brothers. To study the clinical and radiological phenotype in a (second) family with LCPD and microcephaly, clinical, X-ray and MRI follow-up study of two Albanian siblings aged 8 and 11 years, were made. Both siblings had primary microcephaly, seizures and mild-to-moderate mental retardation. At head imaging the boy was found to have skull asymmetry, partial lack of frontal lobe development and partial agenesis of corpus callosum and the girl had a complex brain malformation consisting in thickening of the fronto-temporal cortex, colpocephaly, increased curvature of the Sylvian fissure, elevated tentorium with mild hypoplasia of the cerebellar vermis and dilated cisterna magna. In addition, the brother had ADHD and the sister minor eye anomalies mainly consisting in epicanthic folds and pale bilateral (temporal) optic disk. We recorded (and documented for the first time by brain MRI) a second family with familial co-occurrence of LCPD and microcephaly and the first occurrence of complex brain anomalies in the context of a small head circumference. The present report could encourage the observation of similar cases.
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References
Czeizel A, Lowry RB (1990) Syndrome of cataract, mild microcephaly, mental retardation and Perthes-like changes in sibs. Acta Paediatr Hung 30:343–349
Glueck CJ, Tracy T, Wang P (2007) Legg-Calve-Perthes disease, venous and arterial thrombi, and the factor V Leiden mutation in a four-generation kindred. J Pediatr Orthop 27:834–837
Barcovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB (2005) A developmental and genetic classification for malformations of cortical development. Neurology 65:1873–1887
Wall EJ (1999) Legg-Calve-Perthes’ disease. Curr Opin Pediatr 11:76–79
Kramer J, Hofmann S, Scheurecker A, Tschauner C (2002) Perthes disease. Radiologe 42:432–439
Harper PS, Brotherton BJ, Cochlin D (1976) Genetic risks in Perthes’ disease. Clin Genet 10:178–182
Rowe SM, Chung JY, Moon ES, Yoon TR, Jung ST, Kim SS (2005) Dysplasia epiphysealis capitis femoris: Meyer dysplasia. J Pediatr Orthop 25:18–21
Harel L, Kornreich L, Ashkenazi S, Rachmel A, Karmazyn B, Amir J (1999) Meyer dysplasia in the differential diagnosis of hip disease in young children. Arch Pediatr Adolesc Med 153:942–945
Kannu P, Irving M, Aftimos S, Savarirayan R (2011) Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation. Clin Orthop Relat Res 469:1785–1790
Thompson GH (2011) Salter osteotomy in Legg-Calvé-Perthes disease. J Pediatr Orthop 31(2 Suppl):S192–S197
Hardesty CK, Liu RW, Thompson GH (2011) The role of bracing in Legg-Calve-Perthes disease. J Pediatr Orthop 31(2 Suppl):S178–S181
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Savasta, S., Ruggieri, M., Pavone, P. et al. Microcephaly associated with Legg-Calvè-Perthes disease in two siblings. Neurol Sci 33, 1401–1405 (2012). https://doi.org/10.1007/s10072-011-0891-y
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DOI: https://doi.org/10.1007/s10072-011-0891-y