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At a glance

An extremely rare syndrome combining gigantism, pigmented nevi, jaw cysts, and neurologic signs.

Synonym

Cerebral Gigantism with Jaw Cysts.

Incidence

Unknown. Initially described in nine patients from two families.

Genetic inheritance

Autosomal dominant.

Diagnosis

Based on the clinical findings and family history.

Clinical aspects

This disorder could be considered a variant of ☞Goltz-Gorlin Syndrome, and Cramer and Niederdellmann themselves thought of “their” disease as a combination of ☞Sotos Syndrome and ☞Goltz-Gorlin Syndrome. Congenital macrosomia and postnatal gigantism with accelerated bone growth are common. Craniofacial findings consist of macrocephaly, mild downslanting of palpebral fissures, hypertelorism, mandibular prognathia, frontal and biparietal bossing, odontogenic maxillary and mandibular cysts, and cleft lip and palate. Central nervous system anomalies include hydrocephalus, ventricular enlargement and malformations, cerebellar atrophy, intracranial calcifications, strabismus, nystagmus, ptosis, cerebellar signs (described as motor incoordination), muscular hyptonia, hypo- or areflexia, electroencephalographic anomalies, and insensitivity to pain. Spine anomalies include (kypho-) scoliosis, abnormal cervical vertebrae and vertebral fusion (most often C6 and C7). Scapulae alatae were described in some patients. ☞Gorlin-Goltz Syndrome-like skin changes (ie, multiple nevoid basal-cell epitheliomas) have also been described. In addition, amyotrophy or muscle agenesis and abnormalities of limbs and digits have been reported. Disturbances in the calcium metabolism (with increased alkaline phosphatase and mild increase in parathormone) seem to be a prominent feature of this disorder.

Precautions before anesthesia

Assess for signs of difficult airway management given the craniofacial anomalies with jaw cysts. Preoperative assessment of the cervical spine by radiologic exams (x-ray, CT- or MRI scans) may be indicated. Look for signs of increased intracranial pressure (ICP). If regional anesthesia techniques are considered, preexisting neuromuscular deficits should be clearly documented. Preoperative blood work should include serum electrolytes including calcium and magnesium.

Anesthetic considerations

Given the features of this disorder, airway management is expected to be difficult, thus maintaining spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope) and adherence to an established difficult airway algorithm is advised. A surgeon familiar with surgical airway management and the necessary equipment should easily be available in the operating room. Alternatively, an awake fiberoptic intubation should be considered. The anesthetic management may have to take increased ICP into consideration and aim at maintaining an appropriate cerebral perfusion pressure while at the same time avoiding further increases in ICP (eg, hypercapnia), and prevent seizures and hyperthermia. Judicious use of neuromuscular blocking agents is advised in view of hypotonia and neuromuscular abnormalities and guidance with a peripheral nerve stimulator advised. Central neuraxial blockade is not contraindicated per se (except if ICP is elevated), but might be ...

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