Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2008 Jul;11(3):190-2.
doi: 10.4103/0972-2327.42941.

Sotos syndrome: An interesting disorder with gigantism

A Nalini, Arundhati Biswas
Case Reports

Sotos syndrome: An interesting disorder with gigantism

A Nalini et al. Ann Indian Acad Neurol. 2008 Jul.

Abstract

We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and progressive diminution of vision in both eyes. He had features of gigantism from early childhood. An MRI showed that brain and endocrine functions were normal. This case is of interest, as we have to be aware of this not so rare disorder. In addition to the classic features, there were two unusual associations with Sotos syndrome in the patient.

Keywords: Cerebral gigantism; epilepsy; primary optic atrophy; sotos syndrome.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest: Nil

Figures

Figure 1
Figure 1
(A) Photograph showing prominent superciliary arches, big nose and prognathism (B) Radiograph of skull showing prominent frontal and maxillary sinuses (C) MRI showing normal brain parenchyma and large sphenoid, frontal and ethmoidal sinuses with extensive pneumatization
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Sotos JF, Dodge PR, Muirhead D, Crawford JD, Talbot NB. Cerebral gigantism in childhood. A syndrome of excessively rapid growth with acromegalic features and a non progressive neurologic disorder. N Engl J Med. 1964;271:109. - PubMed
    1. Winship IM. Sotos syndrome-autosomal dominant inheritance substantiated. Clin Genet. 1985;28:243–6. - PubMed
    1. Hook EB, Reynolds JW. Cerebral gigantism: Endocrinological and clinical observations of six patients including a congenital giant, concordant monozygotic twins and a child who achieved adult gigantic size. J Pediatr. 1967;70:900–14. - PubMed
    1. Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, et al. Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet. 2003;40:436–40. - PMC - PubMed
    1. Cole TR, Hughes HE. Sotos syndrome: A study of the diagnostic criteria and natural history. J Mol Genet. 1994;31:20–32. - PMC - PubMed

Publication types