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Rare, severe syndrome combining intestinal lymphangiectasia and lymphedema of the limbs, genital, and face, with a dysmorphic facial appearance and severe mental retardation.

Intestinal Lymphangiectasia-Lymphedema-Mental Retardation Syndrome.

First described by Hennekam in 1989.

Autosomal recessive.

Clinical. The patient presents with severe lymphedema of limbs, genitalia, and face. Also associated with intestinal lymphangiectasis, facial anomalies, and progressive neurologic involvement. The intestinal lymphangiectasia is accompanied by hypoproteinemia, hypogammaglobulinemia, and lymphocytopenia, which help confirm the diagnosis.

Features include head (lymphedematous flat facies, retrognathia, atresia of ear canal, low-set ears, hearing loss, hypertelorism, flat nasal bridge, epicanthal folds, glaucoma, small mouth, narrow palate, flat upper lip, oligodontia, conical crowns, delayed eruptions), skeleton (horizontal clavicles, pectus excavatum, coronal craniosynostosis, scoliosis, syndactyly, camptodactyly, small hands and feet, talipes equinovarus), extremities (lymphedema), skin (alopecia, frontal upsweep, heavy eyebrows, hirsutism), gastrointestinal (GI) tract (lymphangiectasia of the small intestine, rectal prolapse, umbilical hernia), urogenital system (genital lymphedema, ectopic or horseshoe kidney, vesicoureteral reflux, cryptorchism), central nervous system (CNS) (seizures, conductive hearing loss, mental retardation, focal parietal pachygyria, hyperactivity), and heart (ventricular or atrial septal defect, pericardial lymphangiectasia, pericardial effusions). Lymphangiectasia may affect pleura and thyroid. Infection of oozing lymph may cause erysipelas.

Evaluate the airway for potential difficulties with tracheal intubation because of facial malformations (clinical, radiographs), the neurologic function (clinical, EEG, CT, MRI, seizure control), cardiac function (clinical, echography, ECG), and respiratory function because of skeletal deformation and lung lymphangiectasia (clinical, history, pulmonary function test, chest radiographs, CT, arterial blood gas analysis) must also be evaluated. Look for existence and severity of glaucoma (clinical, ophthalmologic examination). Evaluate protein loss (clinical, laboratory including proteinemia, albuminemia, agammaglobulinemia). The intravascular volume and oncotic pressure must be corrected before elective surgical procedures.

High rate of risk for anesthetic implications. Direct laryngoscopy and tracheal intubation can be difficult and require adapted anesthetic techniques including fiberoptic intubation. Venous access can be difficult because of lymphedema. Subclavian venous access can be difficult and probably should be avoided because of clavicle and rib anomalies. Postoperative cardiac monitoring is recommended; ventilatory support can be necessary. If pericardiocentesis because of pericarditis is scheduled, an adapted anesthetic technique must be defined based on the amount of fluid present and how it affects cardiac performance.

Muscle relaxants should be avoided until airway is secured. Avoid drugs that increase intraocular pressure or that are contraindicated in case of glaucoma (atropine, succinylcholine, ketamine). Consider interaction between antiepileptic treatment and anesthetic drugs. The presence in plasma level of albumin (hypoalbuminemia) could influence the pharmacodynamics of anesthetic agents administered. The proportion of active medication between the bound and free portion of the drug used will be modified. It is recommended to reduce the dose administered until albumin level is confirmed. Prophylactic antibiotics in case of cardiopathy as indicated.

Hennekam RCM, Geerdink RA, Hamel BCJ, et al: Autosomal ...

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