Sotos syndrome

[MIM 117 550614 753]

(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 :2402

-        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 : 213.

-        A. Varvinski A, McGill FJ, Judd V, Hodzovic I.
Sotossyndrome … a rare challenge?
Anaesthesia 2001; 56 : 809.

-        Suresh D .
Posterior spinal fusion in Sotos syndrome.
Br J Anaesth 1991 ; 66 : 72832

-        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