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 clinical features include high-arched palate and prognathism with
premature eruption of teeth, hypotonia, hyperor hypothyroidism, and
delayed motor and cognitive development.
Cerebral Gigantism Syndrome.
First described by Juan Fernandez Sotos, American
pediatrician in 1964.
Uncommon. About 150 cases reported. Affects males and
Autosomal dominant—5q35 or 15q22 have been
suggested as the gene locus. Occurs also sporadically.
Caused by a mutation in the NSD1 gene. Possibly
prenatal abnormality or yet unidentified growth-stimulating factor.
Clinical based on facial gestalt, growth pattern, bone
age, and developmental delay. Typical abnormalities of the brain on the MRI scan,
including absence of the corpus callosum. The most common abnormalities of the
cerebral ventricle are prominence of the trigone (90%), occipital horns
(75%), and ventriculomegaly (60%).
Prenatal onset of excessive growth. Birth weight
and length usually greater than 90th percentile. Large hands and feet at
birth. Neonatal problems with feeding and respiration. Rapid early growth,
arm span greater than height, and advanced osseous maturation. Normal levels
of growth hormone. Scoliosis. Macrocephaly, prominent forehead, strabismus,
hypertelorism, high-arched palate, alveolar ridge exostoses, early teeth,
and prominent jaw. Developmental and mental retardation, neonatal hypotonia,
and seizures. Significant behavioral problems. Abnormal glucose tolerance
test; hyperand hypothyroidism. Normal growth hormone. Congenital cardiac
defects; increased risk for tumors.
Assessment of severity of syndrome
with particular consideration of airway and endocrine abnormalities—all
children should have endocrine assessment and exclusion of glucose
intolerance and thyroid dysfunction. Assessment of associated abnormalities
such as cardiac or scoliosis, including investigations and appropriate
A major problem with these children is the high
rate of behavioral disorder with hyperactive and aggressive behavior. Premedication is
recommended and is well tolerated orally. Parental presence has been required despite
premedication to control some of these children for induction. Although there are no
reports of difficult tracheal intubation, it should be anticipated because of the
presence of significant macroglossia. Spontaneous respiration should be maintained until
confirmation that assisted ventilation is possible or tracheal intubation is achieved.
Endocrine (thyroid function) and cardiac considerations if appropriate. Patient may
require intraoperative glucose monitoring.
Relative resistance to premedication
has been reported. If a difficult tracheal intubation is predicted,
nondepolarizing agents should not be used for induction. Endocrine
management may be required. Prophylactic antibiotics may be indicated.
Cramer-Niederdellmann Syndrome: A very rare
syndrome combining cerebral gigantism and basal cell nevi (pigmented nevi),
jaw cysts, macrocephaly, mild hydrocephalus, intracranial calcification, and
Adhami EJ, Cancio-Babu CV: Anaesthesia in a child with Sotos syndrome.
Jones KL: Sotos Syndrome, in Jones KL (ed): Smith's Recognisable Patterns of Human Malformations. 5th ed. ...