International Clinical and Medical Case Reports Journal (ISSN: 2832-5788) | Volume 2, Issue 7 | Case Report | Open Access

Severe Multi-Organ Involvement in A Preterm Baby Affected by SMARCB1 de novo Mutation: A Case Report

Martha Caterina Faraguna^*

Residency in Pediatrics, University of Milano Bicocca, Milano, Italy

^*Correspondence to: Martha Caterina Faraguna 

Abstract

Coffin Siris Syndrome (CSS) is a rare neurological syndrome, which can be associated with other malformations, such as cardiac, gastrointestinal, genitourinary, and sensory abnormalities. It is most frequently caused by heterozygous de novo mutations in ARID1A, ARID1B, ARID2, SMARCA4, SMARCB1, SMARCE1, SOX11, and SOX4. Mutations in SMARCB1 are associated with a worse neurological phenotype and kidney abnormalities and represent 7-12% of all CSS cases.

We report the case of a late preterm baby with severe multi-organ compromise since birth: agenesia of corpus callosum, developmental delay, complete dysphagia, trachea-bronchomalacia which required mechanical ventilation, bilateral hydronephrosis, neurosensorial hypoacusia, frequent infections. When two months old, he was diagnosed with a de novo SMARCB1 mutation. The patient was hospitalized for eight months due to multiple complications.

Keywords:

Coffins Siris Syndrome, SMARCB1; Agenesia corpus callosum; Developmental Delay; Neonatal Intensive Care Unit

Citation:

Martha Caterina Faraguna, Marianna Antonietta Zicoia, Daniela Doni, Mariateresa Sinelli, Tiziana Fedeli, Gaia Kullmann, et al. Severe Multi-Organ Involvement in A Preterm Baby Affected by SMARCB1 de novo Mutation: A Case Report.Int Clinc Med Case Rep Jour. 2023;2(7):1-7.