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

Cerebral Gigantism with Jaw Cysts.

Incidence unknown. Initially described in nine patients from two families. Autosomal dominant inheritance.

The disorder may affect the head and neck (macrocephaly, mandibular prognathia, frontal and biparietal bossing, odontogenic cysts of jaws, cleft lip and palate), the spine (scoliosis, kyphosis, abnormal cervical vertebrae, vertebral fusion), the central nervous system (hydrocephalus, ventricular malformation, cerebellar signs, intracranial calcifications, muscular hyptonia, hyporeflexia or areflexia, electroencephalographic anomalies, insensitivity to pain), and the skin (signs of Gorlin-Goltz Syndrome). In addition, amyotrophy or muscle agenesis and limb and digit abnormalities have been reported. Disturbances in the calcium metabolism seem to be a prominent feature of this disorder. Perioperative control of calcium serum levels is recommended.

Given the features of this disorder, airway management is expected to be difficult. Maintenance of spontaneous ventilation is recommended until the airway has been secured. Caution with depolarizing and nondepolarizing muscle relaxants is advisable in view of hypotonia and neuromuscular abnormalities. Central neuraxial blockade may be difficult because of vertebral malformations and probably should be avoided considering the neurologic impairment.

Sotos Syndrome: Characterized by excessively rapid growth during the first year of life, acromegalic craniocerebral features (macrocephaly, prominent forehead), and a nonprogressive cerebral disorder with mental retardation. Other features include high arched palate and prognathism with premature eruption of teeth, hypotonia, hyperor hypothyroidism, and delayed motor and cognitive development.

Gorlin-Goltz Syndrome: Autosomal dominant inherited ectodermal disorder with complete penetrance but variable expressivity, characterized by multiple basal cell nevi on the torso and shoulders with a potential of malignant degeneration.

Cramer H, Niederdellmann H: Cerebral gigantism associated with jaw cyst basal cell naevoid syndrome in two families. Arch Psychiatr Nervenkr 233:111, 1983.  [PubMed: 6882181]

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