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
First described by Hennekam in 1989.
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 ...