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[Hennekam syndrome]

T Erkan1, T Kutlu, F Cullu

  • 1Département de pédiatrie, faculté de médecine de Cerrahpaşa, université d'Istanbul, Turquie.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|January 14, 1999
PubMed
Summary

Hennekam syndrome is a rare disorder characterized by intestinal lymphangiectasia and facial anomalies. Early diagnosis is crucial for managing this condition, which presents with unique clinical features.

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Area of Science:

  • Genetics and Rare Diseases
  • Pediatric Gastroenterology
  • Clinical Dysmorphology

Background:

  • Hennekam syndrome is a rare genetic disorder characterized by intestinal lymphangiectasia, facial anomalies, and intellectual disability.
  • Previously, only eight cases of Hennekam syndrome have been reported in medical literature.

Observation:

  • A 17-month-old girl presented with peripheral edema, facial anomalies (flat face, broad nasal bridge, puffy eyelids, hypertelorism), and gastrointestinal issues.
  • Laboratory findings included iron deficiency anemia, hypoproteinemia, hypogammaglobulinemia, and elevated fecal alpha-1 antitrypsin.
  • Small bowel biopsy confirmed intestinal lymphangiectasia.

Findings:

  • The patient exhibited intestinal lymphangiectasia and distinct facial dysmorphisms, consistent with Hennekam syndrome.

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  • Despite initial presentation with edema, the patient showed normal mental development at 17 months.
  • Treatment with enteral nutrition and albumin infusion led to clinical improvement.

    • Implications:

    • This case highlights the importance of considering Hennekam syndrome in the differential diagnosis of children with unexplained intestinal lymphangiectasia and facial anomalies.
    • Early recognition and management can improve patient outcomes.
    • Further research into the genetic basis and long-term prognosis of Hennekam syndrome is warranted.