Two brothers with Hennekam syndrome and cerebral abnormalities

We report two brothers with mental retardation, lymphoedema of the limbs an d facial anomalies. Hennekam et al. (Am J Med Genet 34:593-600; 1989) descr ibed four patients with identical signs and intestinal lymphangiectasia. To confirm the diagnosis of Hennekam syndrome we undertook a duodenal biopsy from the older brother which revealed intestinal lymphangiectasia. So far o nly one patient with Hennekam syndrome and cerebral abnormalities has been described. This patient presented with pachygyria in the parietal area. Cer ebral MRI in our two cases revealed small subcortical hyperintensities in b oth patients and a large cystic lesion in the younger patient probably repr esenting an old media infarction. Clin Dysmorphol 9:21-24 (C) 2000 Lippinco tt Williams & Wilkins.