Key result
A Brazilian boy presented with a unique pattern of left ventricular noncompaction cardiomyopathy, partial agenesis of the corpus callosum, and developmental delay, suggesting a new MCA/MR syndrome.
Case Report (n=1)
Describes a potentially novel syndrome combining left ventricular noncompaction cardiomyopathy with partial agenesis of the corpus callosum and developmental delay.
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Alerts clinicians to screen for LV noncompaction in callosal agenesis with delay; leaves open a novel MCA/MR syndrome pending genetic confirmation.
We report on the clinical, neuropsychological and language characteristics of a boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis of the splenium of the corpus callosum, minor anomalies of face and limbs, mild mental retardation, and speech and language disabilities. The occurrence of pilomatricoma (calcifying epithelioma) may be part of the clinical spectrum or a fortuitous finding. Compared to other related conditions with LVNC suggests that this is a "new" unique pattern MCA/MR syndrome.
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Lamônica et al. (2009) conducted a case report in Left ventricular noncompaction cardiomyopathy, agenesis of the splenium of the corpus callosum, and developmental delay (n=1). A Brazilian boy presented with a unique pattern of left ventricular noncompaction cardiomyopathy, partial agenesis of the corpus callosum, and developmental delay, suggesting a new MCA/MR syndrome.
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