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Título

MACROCRANIA, PHENOTYPIC ALTERATIONS AND INTELLECTUAL DEFICIT: A CASE REPORT OF SOTOS SYNDROME.

RESUMO

Case presentation: AOD, male, 9yo. Genitor reports asymmetric skull growth of the infant at 3 months of age. Background: TPAL 1-0-0-1, HC: 37cm at birth, delayed NPMD (first words at 1y2m), no family history of neurological disease. He reports a moderate to strong and pulsatile holocranial headache that worsens with physical activity and noise. Neurological examination: turricephaly, HC: 62cm, symmetrical typical facies with micrognathia, hypertelorism, distant teeth, atypical gait, speech without impairment, sensitivity and tone preserved, MF 5/5 globally, osteotendinous reflexes 2/4 globally, symmetrical, without pyramidal signs, no changes in the cranial nerves. Segmental examination: syndactyly between the 2nd and 3rd left podotactiles, increase of the 2nd right podotactile, presence of multiple surgical scars from lipoma’s removal and multiple verrucous lesions in the cervical and inguinal region. The suspicion of hydrocephalus was ruled out after skull MRI, which showed macrocrania, multiple enlargements of the perivascular spaces in the subcortical regions, especially in the frontoparietal region, cystic lesions in the bilateral fronto-temporo-parietal and periventricular left white matter. Clinical presentation compatible with Sotos Syndrome. Discussion: Sotos Syndrome is clinically characterized by macrocephaly, phenotypic changes, intellectual deficit, autistic spectrum disorder, hyperextensibility of joints, scoliosis and epilepsy. It is a genetic disease marked by a pathogenic variant in the heterozygosity in the NSD1 gene, and most mutations are de novo, as we could see in the presented case, in which there is no family history of similar neurological conditions. The diagnosis is made by identifying the mutation in a genetic panel. So far, there is no treatment for the genetic condition, but symptomatic treatment can be done, such as the performance of adjunct therapies like speech and physical therapy. The literature has not yet demonstrated an association with migraine or the presence of lipomas. Final comments: The present cause is highly suggestive for the condition, with compatible clinical history and presentation. Further investigation with genetic testing is suggested for full diagnoses confirmation. Besides that, follow-up of this child with therapies and interventions for a better prognosis are suggested.

Palavras Chave

Sotos Syndrome, OGID, macrocrania, neuropediatrics, intellectual deficit.