[MIM 235 510]

Very rare. Autosomal recessive transmission. Dysplasia of the lymphatic system involving:

-        lymphedema, present from birth: face, limbs and genital tract

-        intestinal lymphangiectasies with protein-losing enteropathy, and secondary hypoproteinemia with edema and ascites

-        facial dysmorphism: hypertelorism a with broad and depressed nasal bridge, epicanthus, abnormalities of the ears, midface hypoplasia.

-        moderate mental retardation and seizures.

Sometimes: delayed puberty, dental anomalies, gingival hypertrophy, vascular abnormalities, congenital pulmonary lymphangiectasia and a narrow rib cage.

More rarely: glaucoma, non-immune hydrops fetalis, chylothorax, cerebral cysts, craniosynostosis.

Treatment is symptomatic. Many patients need parenteral nutrition with medium chain triglycerides diet, and albumin infusions. Supplements of vitamins and electrolytes associated with a high protein diet have proven beneficial. When present, pulmonary lymphangiectasia is particularly difficult to treat and can progress inexorably during adulthood. Lymphedema can be very disabling and require several surgical interventions. The prognosis is variable.

Anesthetic implications:

hypoproteinemia and electrolytes disturbances by malabsorption ; possible difficult intubation (midface hypoplasia)

References : 

Updated: March 2019