Introduction:
Menke-Hennekam Syndrome is a novel and rare type of congenital generalized lymphangiectasia characterized by atypical facial and corporal features as by mental retardation of varying degrees. Hereby is the report of a mexican female scholar identified with this rare and severe lymphatic disease.
Report: 8-year-old female, product of the 4th pregnancy, with history of limb lymphedema since the first month of life.At the age of 2 presented Generalized Lymphedema ,with Diagnosis of Intestinal Lymphangiectasia and Cervical Lymphatic Malformation at a third level hospital a month later treated with a high protein diet and complex sugars exclussion. On November 20, 2020 begins with progressive generalized lymphedema, 5 days later with short of breath at rest. Arrives at the ER where is categorized as a possible Sars Cov-2 infection,enters COVID-19 isolation zone where she stayed for 21 days before the access to the pICU in order to continue the management of a right massive chylothorax. On December 15 is valued by an Immunology specialist in order to discard a primary immunodeficiency and a probable Milton Syndrome. Menke-Hennekam Syndrome was determined as the affection because of the presence of atypical facies, autism-like behavior with low intellectual capacity, clinodactyly, short stature, hypogammaglobulinemia (Globulines 1,5 mg/dl) in a patient with global lymphangiectasia expressed as intestinal lymphangiectasia, recurrent and severe chylothorax, facial and limbs lymphedema.
Discussion: Nowaday, the Meneke-Hennekam Syndrome diagnosis is based in genetic studies, but their access is very limited in non-developed countries, making the clinical features of early lymphatic drainage problems in a child with dysmorphisms and neurodevelopment issues along hypoproteinemia valuable clues for an early identification.
Conclusion: Early lymphatic drainage issues presented in pediatric patients should be closely monitored by a multi–disciplinary group of specialists for proper diagnosis and therapeutics.