Case Report: The First Glass Syndrome in Indonesian Children

Saputra DR, Mangunatmadja I, Nurfitri E and Sulistyowati A

Department of Pediatrics, Fatmawati Hospital, Indonesia
Department of Child Health, Cipto Mangunkusumo Hospital, Indonesia

^*Correspondance to: Irawan Mangunatmadja 

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Abstract:

SATB2-Associated Syndrome (SAS) or glass syndrome is a condition that affects several body systems. It is mainly characterized by intellectual disability, severe speech problems, and dental abnormalities, other abnormalities of the head and face, and behavioral problems. Genetic testing is mandatory to confirm the disease. We report or case of 5-year old boy who suffered from neurological regression, seizure, behavioral problem and ultimately, encephalopathy. Later his genetic testing detected a mutation detected a missense point mutation which causes an amino acid change from Asn to Ser at position 268 in SATB2 gene location. Currently, this mutation is classified as heterozygous variant of uncertain significance. The SATB2 gene is known to play a key role in brain and skeletal development, thus this was consistent with our case that developed mainly neurological problems.

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Cite the Article:

Saputra DR, Mangunatmadja I, Nurfitri E, Sulistyowati A. Case Report: The First Glass Syndrome in Indonesian Children. Clin Case Rep Int. 2022; 6: 1270.