A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development

Abstract

The syndrome of megalencephaly, mega corpus callosum and complete lack of motor development (MCC; OMIM 603387) is an apparently rare condition since only three sporadic cases have been reported [Gohlich-Ratmann et al. (1998); Am J Med Genet 79:161-167]. We describe an additional case that was not diagnosed until age 15 months. The MRI showed generalized, severe enlargement of the corpus callosum and thickening of the cortex. The cause for the MCC syndrome is unknown and both autosomal recessive and spontaneous dominant genetic mechanisms are possibilities.

Corpus callosum thickness in children: an MR pattern-recognition approach on the midsagittal image

“…Conditions associated with megalencephaly These include megalencephaly, mega corpus callosum and complete lack of motor development [33][34][35]; megalencephaly, mega corpus callosum polymicrogyria (Fig. 25) Thick corpus callosum associated with a normal head size Thick corpus callosum associated with a normal head size is reported with neurofibromatosis type I and syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum and mental retardation; and it can be incidental, e.g., upper range of normal [38].…”

Megalencephaly, mega corpus callosum, and complete lack of motor development: Delineation of a rare syndrome

“…In these reports the distribution of polymicrogyria differed between affected children. Whereas Dagli et al 2008 found generalized cortical thickening, focal thickening with incomplete opercularization was reported by Göhlich‐Ratmann et al 1998. In the patient reported by Pierson et al 2008, bilateral perisylvian polymicrogyria extending to the frontal lobes was noted whereas macrocephaly was absent (Table I).…”

“…The particular combination of megalencephaly, extensive polymicrogyria with a pachygyric appearance and mega CC, is extremely rare. Only four patients showing a similar brain morphology combined with a severely impaired motor development have been reported so far (Table I) [Göhlich‐Ratmann et al, 1998; Dagli et al, 2008]. In these reports the distribution of polymicrogyria differed between affected children.…”

“…Magnetic resonance imaging (MRI) revealed bilateral megalencephaly with mega CC, enlarged white matter, extensive polymicrogyria and bilaterally widened sylvian fissures related to incomplete opercularization. One additional patient with identical features was reported recently [Dagli et al, 2008] and another patient has been discussed to contribute to the disease spectrum showing mega CC, perisylvian polymicrogyria and severely impaired motor development with relative megalencephaly compared to short stature [Pierson et al, 2008] (Table I). No metabolic or genetic abnormities were detected in any of these patients.…”

Microstructural changes in thickened corpus callosum in children: contribution of magnetic resonance diffusion tensor imaging

“…The pathophysiology of thickened corpus callosum is not well known because it is in some cases an isolated finding [3,4]; however it is frequently associated with other brain malformations [3,[5][6][7][8][9][10]. It can be a part of syndromic conditions such as Cohen syndrome [11], Williams syndrome [12], and neurofibromatosis type 1 [13].…”