Hennekam syndrome Syndrome de Hennekam


ERKAN T. , KUTLU T. , CULLU F. , CELIK M., DEMIR T., Tuysuz B. , ...Daha Fazla

Archives de Pediatrie, cilt.5, sa.12, ss.1344-1346, 1998 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 5 Konu: 12
  • Basım Tarihi: 1998
  • Doi Numarası: 10.1016/s0929-693x(99)80054-2
  • Dergi Adı: Archives de Pediatrie
  • Sayfa Sayıları: ss.1344-1346

Özet

Hennekam syndrome is a disorder comprising intestinal lymphagiectasia, facial anomalies and moderate mental retardation. Eight cases have been previously reported. Case report. - A 17-month-old girl was admitted to hospital for peripheral edema. On physical examination, she presented with a normal mental development. Facial anomalies were noted including a flat face, depressed and broad nasal bridge, puffy eye lids, mild down-slanting palpebral fissures, hypertelorism, epicanthal folds, bulbous nasal tip, small mouth, and low set ears. A simian line and haemangiomas on the arms, trunk and left limb were also noted. There was no organomegaly. Laboratory investigations showed iron deficiency anemia, hypoproteinemia, hypogammaglobulinemia and an elevated level of alpha-1 antitrypsin excreted in the feces. Endoscopic investigation and the small bowel biopsy showed findings consistent with lymphangiectasia. The patient did well on 24 hour enteral nutrition including medium-chain triglyceride rich diet and infusion of human albumin. Conclusion. - We have aimed to remind that Hennekam syndrome should be included in differential diagnosis when intestinal lymphangiectasia are associated with facial anomalies.