SOTO SYNDROME
 
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SOTO SYNDROME

 

DEFINITION:

An endocrine disorder of unknown etiology characterized by gigantism, peculiar facies, and mental retardation.

EPIDEMIOLOGY:

  • incidence: rare (about 150 cases worldwide)
  • age of onset:
    • large at birth but diagnosis by 2-3 years
  • risk factors:
    • mostly sporadic but some autosomal dominant and autosomal recessive forms
    • M = F

PATHOGENESIS:

1. Background

  • unknown but abnormal dermatographics and large size at birth suggest a prenatal abnormality; there may be a role for some as yet unidentified growth-stimulating material
  • also called Cerebral Gigantism Syndrome

CLINICAL FEATURES:

1. Infancy/Childhood

  • birth weight and length usually greater than the 90th%
    • mean weight and height are 3.9 kg and 55.2 cm, respectively
  • may be respiratory and feeding problems in the neonatal period
  • during the first 4-5 years, there may be a rapid increase in height but then the height remains parallel to the normal growth curve along or greater than the 95th%

2. Characteristic Features

  • gigantism (tall stature) - 100%
  • prominent forehead (96%)
  • high-arched palate (96%)
  • hypertelorism (91%)
  • arm span greater than height (91%)
  • dolichocephaly (90%)
  • mental retardation (median IQ = 72) - 84%
  • large hands and feet (83%)
  • pointed chin (83%)
  • down-slanting palpebral fissures (77%)
  • lack of fine motor control (67%)
  • premature eruption of teeth (57%)
  • non-specific abnormal dermatoglyphics (33%)
  • others: early onset puberty (but consistent with bone age) gross motor and expressive language delays, macrocephaly clumsiness and awkward gait

3. Complications

  • increased risk for neoplasms
    • Wilm's Tumor
    • hepatocarcinoma, mixed parotid tumor, neuroectodermal tumor, osteochondroma, vaginal carcinoma

INVESTIGATIONS:

1. Endocrine Studies

  • consistently normal
  • growth hormone levels are normal
  • some cases of hypo- or hyperthyroidism
  • abnormal glucose tolerence test in 14%

2. Imaging Studies

1. Bone Age

  • advanced osseous maturation consistent with height

2. Skull X-Ray

  • large skull, high orbital roof, normal sella size

3. CT

  • mildly enlarged ventricles and enlarged subarachnoid space

3. EEG

  • nonspecific abnormalities in 45%

MANAGEMENT:

1. Supportive

  • no treatment for disorder
  • may need special education
  • genetic counselling
  • moniter for long-term complications (i.e., tumors)

INTERNET LINKS:

Sotos Syndrome Support Association

 

 

Pediatric Database - SOTO SYNDROME

 

Pediatric Organization - Pedbase [at] Gmail.com

 
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