Hennekam Case Study

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HENNEKAM LYMPHANGIECTASIA SYNDROME ABSTRACT Hennekam Lymphangiectasia Syndrome is a rare autosomal recessive condition. Onset is usually in childhood. The prevalence is unknown but less than 50 cases have been reported in the literature. Incidence is about 1 in 1,00,000 and occurs in all ethnic groups. The syndrome is characterized by the association of lymphedema, intestinal lymphangiectasia, intellectual defecit and facial dysmorphism. Here is a case presented with distension of abdomen with ascites, bilateral pedal oedema, macrocephaly, left half facial edema, left half hypertrophied tongue, dental anamolies. acanthosis nigricans, acrochordons and syndactyly consistent with a diagnosis of Hennekam syndrome. The diagnosis of Hennekam is…show more content…
The dermatological anomalies seen in this case are left side lymph edema of face, bilateral lymphedema of the limbs with pes planus, left syndactyly of 2nd & 3rd toes, acanthosis nigricans and acrochordons as shown in Fig:1. Hypoalbuminemia, hypoglobulinemia and chylous ascites due to rupture serosal and mesenteric lymphatics are seen as shown in Fig:2 suspecting intestinal lymphangiectasis. Hydro ureter nephrosis and cystitis changes are seen suggestive of renal involvement. Fig : 2 Chylous Ascites In summary we present a rare case of Hennekam syndrome, a developmental disorder of lymphatics presenting with peripheral limb edema, macrocephaly, left facial edema, left half hypertrophy of tongue, oligodontia, pes planus, syndactyly involving left 2nd & 3rd toes, chylous ascites, hydroureter nephrosis and cystitis. Physicians need to have high degree of suspicion in patients presenting with multiple congenital anamolies involving lymphatics. Diagnosis is suspected based on classical phenotypic features. But lymphatic malformations can be demonstrated by intestinal mucosal biopsy and radionuclide lymphoscintigraphy.…show more content…
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