Two brothers with Hennekam syndrome and cerebral abnormalities.
We report two brothers with mental retardation, lymphoedema of the limbs and facial anomalies. Hennekam et al. (Am J Med Genet 34:593-600; 1989) described 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 only one patient with Hennekam syndrome and cerebral abnormalities has been described. This patient presented with pachygyria in the parietal area. Cerebral MRI in our two cases revealed small subcortical hyperintensities in both patients and a large cystic lesion in the younger patient probably representing an old media infarction.
Huppke
P
P
Abteilung Kinderheilkunde, Schwerpunkt Neuropädiatrie, Georg-August-Universität Göttingen, Germany. phuppke@med.uni-goettingen.de
Christen
H J
HJ
Sattler
B
B
Hanefeld
F
F
D000015:Abnormalities, Multiple / Q000473:pathology*; D001706:Biopsy; D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000473:pathology; D008201:Lymphangiectasis, Intestinal / Q000473:pathology; D008209:Lymphedema / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome