Zunich Neuroectodermal Syndrome

At a glance

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

Synonyms

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.

Nature

Congenital genetic disorder.

Incidence

Very rare. Eight case reports worldwide since first description in 1983.

Genetic inheritance

Autosomal recessive. Biallelic mutations in PIGL.

Pathophysiology

Unknown.

Diagnosis

Clinically evocated by the association of eye, heart, and ear defect combined with mental retardation and ichthyosis. Molecular confirmation of PIGL mutation has been established.

Clinical aspects

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 (six of eight cases 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 clubfoot). 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.

Precautions before anesthesia

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. A consultation with a cardiologist assesses cardiac function. The degree of deafness and mental retardation must be evaluated. Assess effective epilepsy treatment. Blood cell count is advised due to 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) should be determined preoperatively. Depending on the degree of ...