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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.
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.
Abstract:
MEGDEL syndrome and SATB2-associated syndrome (SAS) are both rare congenital disorders with poor prognoses caused by gene mutations. We present the case of a 2-day-old girl with an unexplained abnormal liver function, feeding problem, and dystonia. Using next-generation sequencing, we identified two novel mutations in SERAC1 and a mutation in SATB2. Now, she is 15 months old and has the characteristics of SAS, such as downslanting palpebral fissures and delayed primary dentition. Besides the typical phenotypes of MEGDEL syndrome, such as hypertonia, failure to thrive, deafness, and motor regression, she has progressive cholestasis and is prone to high serum lactate after rehabilitation training and hypoglycemia with low ketone under starving conditions. These phenotypes substantially differ from the transient liver function abnormalities and hypoglycemia reported in the literature.
