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
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
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
Cramer H, Niederdellmann H: Cerebral gigantism associated with jaw cyst
basal cell naevoid syndrome in two families. Arch Psychiatr Nervenkr