Zunich Neuroectodermal Syndrome

A severe polymalformative syndrome involving early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, seizures, and mental retardation. Other features include congenital heart defect (e.g., tetralogy of Fallot, ventricular septal defect, transposition of great vessels), conductive hearing loss, ear defect, and neurological function.

CHIME (Colobomas of the Eye, Heart Defects, Ichthyosiform Dermatosis, Mental retardation, and Ear Defects) Syndrome; CHIME Neuroectodermal Dysplasia; Neuroectodermal Syndrome Zunich type; Zunich-Kaye Syndrome.

Congenital genetic disorder.

Unknown; seven case reports worldwide between 1983 and 1997. There are no new cases reported since.

Autosomal recessive.

Unknown.

Clinically evocated by the association of eye, heart, and ear defect combined with mental retardation and ichthyosis.

Patients often have feeding difficulties in their first years of life because of poor coordination of swallowing. Clinical signs can involve skin (early onset of migratory ichthyosiform dermatosis, sparse fine hair, thick palms and soles), head (brachycephaly, flat and broad nasal root, short philtrum, wide mouth, full lips, widely spaced teeth, occasional cleft palate and bifid uvula), eyes (hypertelorism, epicanthic folds, retinal colobomas), central nervous system (CNS) (mild cerebral cortical atrophy, mental retardation, seizures and wide-based gait, conductive hearing loss with abnormal auditory evoked potentials), heart (5 of 7 cases between 1983 and 1997 presented with tetralogy of Fallot, transposition of the great arteries, peripheral pulmonary stenosis, or ventricular septal defect), kidney (duplicated collecting system, ectopic renal pelvis, ureteropelvic junction obstruction), and skeleton (brachydactyly, clinodactyly, broad second toe, occasional club foot). Possible dysregulation of cell division and immunologic dysfunction. After correction of their cardiac defect, their general health is usually satisfactory, except for frequent sinus infections. Exacerbation of seizures and skin rash occur with puberty, and the pruritus associated with the dermatosis has resulted in sudden expression of violent behavior. Mental retardation in the majority of cases, along with the behavioral outbursts, often resulted in the need for constant supervision.

A complete medical history and physical examination should be obtained. It is essential to assess the airway and any indications of repetitive pulmonary aspiration and recurrent infections. The presence of associated cardiac defects as well as history of surgical correction must be reviewed. When available, a consultation with a cardiologist must be obtained to assess and determine the cardiac function (e.g., echocardiography and if necessary, cardiac catheterization). The degree of deafness and mental retardation must be evaluated. It is very important to review the treatment and its efficacy in patients affected with epilepsy. Blood examination must include a complete blood cell count because of frequent infections and the possible association with acute lymphocytic leukemia. Hemoglobin, electrolytes, and creatinine (renal function is rarely compromised, but cases of ureteropelvic reflux have been described) must be measured. Depending on the degree of mental retardation, the use of sedative premedication may be indicated. The presence of the patient's care provider in the preoperative area may be helpful when judged appropriate by the anesthesiologist.

During the first years of life, patients may be at risk for pulmonary aspiration and a rapid-sequence induction is indicated. Anesthetic management should be adapted to each particular heart disease.

In the presence of seizure disorder, avoid potentially epileptogenic drugs such as methohexital, ketamine, enflurane, sevoflurane, atracurium, cis-atracurium, and meperidine (these last three, if given in large quantity, because of their respective metabolites, laudanosine and normeperidine). Maintain anticonvulsant therapy perioperatively. In case of cardiopathy antibiotic prophylaxis is required as indicated.