Sotos syndrome
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(Cerebral Gigantism)
Rare. Sporadic or autosomal dominant transmission of a mutation of the NSD1 gene (5q35) (75 % of cases) or microdeletion of 5q35. The NSD1 gene codes for a histone methyltransferase implied in the regulation of chromatin. Gigantism characterized by a large size at birth and very fast growth in size, especially during the first 3 years of life. The growth in height decreases thereafter and the adult height is generally normal. Close to Weaver syndrome [MIM 277 590] (see this term) or to Makan syndrome formerly called Sotos type 2 [MIM 602 535] (see this term).
Clinical association of:
- hypotonia and feeding difficulties during the neonatal period
- macrocephaly with abnormalities at MRI,: partial or complete agenesis of the corpus callosum, ventriculomegaly, prominent occipital horns, increased amount of extracerebral CSF
- narrow and elongated face with a pointed chin, frontal bossing, hypertelorism, downslanting palpebral fissures
- high arched palate, prognathism
- big hands and feet
- advanced bone age
- variable intellectual deficit.
Sometimes:
- congenital heart disease (8 %)
- epilepsy or EEG abnormalities
- glaucoma, hypoplasia of iris, nystagmus, cataract
- obstructive sleep apnea.
Increased tumor risk: nephroblastoma, neuroblastoma.
Anesthetic implications:
obstructive apnea. Risk of epilepsy and glaucoma. Check the echocardiography. Behavioural disorders.
References :
- Chung J-Y, Kim G, Park J-H et al.
Anesthetic considerations in a child with Sotos syndrome : a case report.
Anesthesia and Pain Medicine 2017; 12 :240–2
- Chierichini A, Messina A, Vergari A, Santoprete S, Rassanito L.
Regional anesthesia in a child with Sotos syndrome.
Int J Immunopathology Pharmacology 2011; 241, S2 : 21–3.
- A. Varvinski A, McGill FJ, Judd V, Hodzovic I.
Sotos’syndrome … a rare challenge?
Anaesthesia 2001; 56 : 809.
- Suresh D .
Posterior spinal fusion in Sotos’ syndrome.
Br J Anaesth 1991 ; 66 : 728–32
- Jones D, Doughty L, Brown K.
Anaesthesia for a child with Sotos’ syndrome,”
Anaesthesia and Intensive Care 1991 ; 9 : 298-9.
- Adhami EJ, Cancio-Babu CV.
Anaesthesia in a child with Sotos syndrome.
Paediatr Anaesth 2003; 13: 835-40.
- Winegarner A, Kendall MC, Lecamwasam H.
Successful anesthetic management of an adult with Sotos syndrome.
Case Reports in Anesthesiology 2022, Article ID 2585015, 4 pages ; doi.org/10.1155/2022/2585015
Updated: March 2022