Purpose. Mental retardation, mild to severe epilepsy and cerebral palsy often of hemiplegic type are common accompaniments in patients with agenesis/hypoplasia of the corpus callosum. Skeletal deformities of bilateral radiohumeral synostosis, brachydactyly, bilateral elbow dislocation, talipes equinovarus, and juxtacalcaneal accessory bones have been encountered in two unrelated children with agenesis of the corpus callosum. Methods. We report on two unrelated children who presented with the full clinical criteria of agenesis of the corpus callosum. Strikingly, both presented with variable upper and lower limb deformities. The clinical features, radiographic and MRI findings in our current patients, have been compared with previously reported cases identified through a PubMed literature review. Results. Bilateral radiohumeral synostosis associated with pyruvate dehydrogenase deficiency has been encountered in one patient. The other patient manifested bilateral elbow dislocation, coxa valga, talipes equinovarus, and bilateral juxtacalcaneal accessory bones. Conclusion. The constellation of malformation complexes in our current patients have the hitherto not been reported and expanding the spectrum of skeletal deformities in connection with agenesis of the corpus callosum. 1. Introduction Partial or complete absence of the corpus callosum (CC) is among the commonest developmental anomalies of the brain. A large number of cerebral and other malformations occur in association with callosal agenesis. The brain anomalies include lipoma of the corpus callosum, cerebellar hypoplasia, the Dandy-Walker syndrome, hydrocephalus due to this or to obstruction of the foramen of Monro or aqueduct stenosis, interhemispheric cysts, porencephalic cysts, and the neuronal migration disorders [1, 2]. Associated craniofacial dysmorphic features include hypertelorism, encephaloceles, and craniosynostosis. Ocular anomalies seen include microphthalmia, coloboma, retinal lacunae (Aicardi syndrome), and optic nerve hypoplasia [3]. We describe two sporadic cases of unrelated girls with agenesis of the CC. The clinical features, radiographic and MRI findings in our current patients, have been compared with previously reported cases identified through a PubMed literature review. 2. Clinical Reports 2.1. Patient 1 A two-year-old girl was referred to our department because of bilateral and symmetrical contractures and shortenings of the upper limbs. She was born with low birth weight and she was hypotonic. Parents are not related and family history was noncontributory. At birth, she
References
[1]
F. Aboitiz, “Brain connections: interhemispheric fiber systems and anatomical brain asymmetries in humans,” Biological Research, vol. 25, no. 2, pp. 51–61, 1992.
[2]
F. Aboitiz, A. B. Scheibel, R. S. Fisher, and E. Zaidel, “Fiber composition of the human corpus callosum,” Brain Research, vol. 598, no. 1-2, pp. 143–153, 1992.
[3]
P. Maroteaux and M. Le Merrer, Maladies Osseuses de L' Enfant, Paris Médicine-Sciences Flammarion, 4th edition, 2002.
[4]
S. El Abd, L. Wilson, P. Houlin, M. A. Patton, A. M. Wintgens, and R. Wilson, “Agenesis of the corpus callosum in Turner syndrome with ring X,” Developmental Medicine and Child Neurology, vol. 39, no. 2, pp. 119–124, 1997.
[5]
K. M. Antshel, J. Conchelos, G. Lanzetta, W. Fremont, and W. R. Kates, “Behavior and corpus callosum morphology relationships in velocardiofacial syndrome (22q11.2 deletion syndrome),” Psychiatry Research, vol. 138, no. 3, pp. 235–245, 2005.
[6]
T. L. Baumgardner, A. L. Reiss, L. S. Freund, and M. T. Abrams, “Specification of the neurobehavioral phenotype in males with fragile X syndrome,” Pediatrics, vol. 95, no. 5, pp. 744–752, 1995.
[7]
C. E. Bearden, M. F. Woodin, P. P. Wang, and E. Moss, “The neurocognitive phenotype of the 22q11.2 deletion syndrome: selective deficit in visual-spatial memory,” Journal of Clinical and Experimental Neuropsychology, vol. 23, no. 4, pp. 447–464, 2001.
[8]
M.-C. Chiang, A. L. Reiss, A. D. Lee et al., “3D pattern of brain abnormalities in Williams syndrome visualized using tensor-based morphometry,” NeuroImage, vol. 36, no. 4, pp. 1096–1109, 2007.
[9]
K. A. Aleck, A. M. Kaplan, W. G. Sherwood, and B. H. Robinson, “In utero central nervous system damage in pyruvate dehydrogenase deficiency,” Archives of Neurology, vol. 45, no. 9, pp. 987–989, 1988.
[10]
W. J. Craigen, “Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate,” Pediatric Neurology, vol. 14, no. 1, pp. 69–71, 1996.
[11]
G. K. Brown, R. M. Brown, R. D. Scholem, D. M. Kirby, and H.-H. M. Dahl, “The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency,” Annals of the New York Academy of Sciences, vol. 573, pp. 360–368, 1989.
[12]
G. K. Brown, E. A. Haan, D. M. Kirby et al., “'Cerebral' lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis,” European Journal of Pediatrics, vol. 147, no. 1, pp. 10–14, 1988.
[13]
G. K. Brown, L. J. Otero, M. LeGris, and R. M. Brown, “Pyruvate dehydrogenase deficiency,” Journal of Medical Genetics, vol. 31, no. 11, pp. 875–879, 1994.
[14]
L. L. Hansen, N. Horn, H.-H. M. Dahl, and T. A. Kruse, “Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1α subunit,” Human Molecular Genetics, vol. 3, no. 6, pp. 1021–1022, 1994.
[15]
W. Lissens, P. Vreken, P. G. Barth et al., “Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1α gene,” European Journal of Pediatrics, vol. 158, no. 10, pp. 853–857, 1999.
[16]
P. Briones, M. J. López, L. De Meirleir, et al., “Leigh syndrome due to pyruvate dehydrogenase E1α deficiency (point mutation R263G) in a Spanish boy,” Journal of Inherited Metabolic Disease, vol. 19, no. 6, pp. 795–796, 1996.
[17]
H. Saijo, H. Tanaka, J. Ito et al., “Pyruvate dehydrogenase complex deficiency with multiple minor anomalies,” Acta Paediatrica Japonica, vol. 39, no. 2, pp. 230–232, 1997.
[18]
S. L. Marles, M. Reed, and J. A. Evans, “Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure,” American Journal of Medical Genetics, vol. 116, no. 1, pp. 85–89, 2003.
[19]
R. A. Pfeiffer and C. Braun-Quentin, “Genetic nosology and counseling of humeroradial synostosis,” Genetic Counseling, vol. 5, no. 3, pp. 269–274, 1994.
