Epilepsy and early-onset overgrowth syndrome revealing Sotos syndrome

Epilepsia e síndrome de crescimento excessivo de início precoce revelando a síndrome de Sotos

A 44-year-old woman presented with childhood-onset refractory complex partial seizures. Medical history revealed neonatal macrosomia and hypotonia, early-onset overgrowth in infancy, macrocephaly and mild intellectual disability. Examination revealed macrodolichocephaly with prominent forehead and facial dysmorphisms, scoliosis, large hands and arachnodactyly (Figure 1). Neuroimaging showed macrocerebellum, ventriculomegaly and persistent cavum septum pellucidum (Figure 2). Clinical and neuroimaging features were diagnostic of Sotos syndrome.

Figure 1
Dysmorphisms in Sotos syndrome. (A-B) Examination disclosing large prominent forehead, pointed chin, large hand with arachnodactyly and marked scoliosis (C) and lumbar hyperlordosis (D) in X-ray studies.

Figure 2
Neuroimaging findings in Sotos syndrome. (A) Sagittal brain MR imaging disclosing macrocerebellum (white arrow) in T1-weighted images. Axial brain MR imaging showing right hippocampal and temporal lobe malrotation with atrophy (white arrow-head), persistent cavum septum pellucidum (asterisk), ventriculomegaly with prominence of the occipital horns and mild brain asymmetry.

Sotos syndrome or cerebral gigantism is an autosomal dominant or sporadic disorder characterized by early-onset overgrowth syndrome, typical facial dysmorphisms, global developmental delay, epilepsy¹ and neuroimaging findings including midline defects, enlargement of ventricles and macrocerebellum².

References

• ¹
  Tatton-Brown K, Rahman N. Sotos syndrome. Eur J Hum Genet. 2007;15(3):264-71. http://doi.org/10.1038/sj.ejhg.5201686
  » http://doi.org/10.1038/sj.ejhg.5201686
• ²
  Horikoshi H, Kato Z, Masuno M, Asano T, Nagase T, Yamagishi Y et al. Neuroradiologic findings in Sotos syndrome. J Child Neurol. 2006;21(7):614-8. http://doi.org/10.1177/08830738060210071001
  » http://doi.org/10.1177/08830738060210071001

Publication Dates

• Publication in this collection
  Feb 2017

History

• Received
  23 July 2016
• Accepted
  03 Oct 2016