Ramon Syndrome

A syndrome characterized by mental deficiency, epilepsy, cherubism, and stunted growth.

Cherubism Gingival Fibromatosis Epilepsy Mental Deficiency Syndrome; Gingival Fibromatosis Hypertrichosis Cherubism Mental Retardation Epilepsy Syndrome.

Autosomal recessive.

The diagnosis is a clinical one based on the presence of cherubism, mental retardation, and short stature.

The affected individuals have a characteristic cherubic facies as a result of fibrous dysplasia of the mandibule associated with gingival fibromatosis and overgrowth that leads to inability to close the mouth. Other features include epilepsy, mental retardation, hypertrichosis, and small stature. Some of the reported cases had clinical and radiological signs of juvenile rheumatoid arthritis. Other patients present with ocular involvement (anterior and posterior segment ocular abnormalities, including Axenfeld anomaly, retinopathy, and pale anomalous optic discs). Finally, other manifestations have been described, such as diabetes mellitus, telangiectasia, sensorineural deafness, and changes in the retina.

If juvenile rheumatoid arthritis is present and severe, obtain cervical spine radiograph to rule out atlantoaxial instability. Evaluate tracheal intubation (clinical, radiographs). Evaluate neurological function (clinically, electroence-phalographic), including seizure medications.

Because of the gingival and mandibular overgrowth and dysplasia, tracheal intubation may be difficult. Avoid teeth trauma. If the patient presents with juvenile rheumatoid arthritis, vascular access and positioning might be more difficult.

Muscle relaxants should be avoided until airway is secured. Consider interaction between antiepileptic treatment and anesthetic drugs.