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Case Report: Progressive Cholestasis: Severe Phenotype of MEGDEL Syndrome With SATB2-Associated Syndrome

Yajie Su1,2, Hui Zhang2, Huijun Wang3

  • 1Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China.

Frontiers in Pediatrics
|October 18, 2021
PubMed

Insights

MEGDEL syndrome and SATB2-associated syndrome (SAS) are rare genetic disorders. This case highlights a novel dual mutation in SERAC1 and SATB2, presenting unique progressive phenotypes in a pediatric patient.

Area of Science:

  • Genetics
  • Pediatrics
  • Metabolic Disorders

Background:

  • MEGDEL syndrome and SATB2-associated syndrome (SAS) are rare congenital disorders with significant morbidity.
  • Both conditions result from specific gene mutations and are associated with poor prognoses.

Observation:

  • A 2-day-old infant presented with abnormal liver function, feeding difficulties, and dystonia.
  • Next-generation sequencing revealed novel mutations in SERAC1 and a mutation in SATB2.

Findings:

  • At 15 months, the patient exhibits SAS features (downslanting palpebral fissures, delayed dentition) and MEGDEL phenotypes (hypertonia, failure to thrive, deafness, motor regression).
  • Progressive cholestasis, high serum lactate post-rehabilitation, and hypoglycemia with low ketones under starvation were observed, differing from literature.

Implications:

  • This case expands the known phenotypic spectrum of MEGDEL syndrome and SAS.
  • The identification of dual SERAC1 and SATB2 mutations offers insights into complex genetic interactions and disease progression.

Keywords:
MEGDEL syndromeSATB2-associated syndromefollow-upnext-generation sequencingphenotype

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