Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome - A case series from the West Midlands, UK
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Published on: September 20, 2024
Helen McDermott1, Jennifer Simmonds2, Manigandan Thyagarajan3
1Birmingham Women's and Children's NHS Foundation Trust, Clinical Genetics Department, Birmingham, Birmingham, UK.
Insights
Stüve-Wiedemann Syndrome (STWS), a rare genetic disorder, is increasingly managed with early diagnosis and multidisciplinary care. Molecular testing aids in identifying LIFR gene variants, improving outcomes for affected children.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Stüve-Wiedemann Syndrome (STWS) is an autosomal recessive disorder linked to LIFR gene variants.
- Historically considered lethal, STWS management has improved with early diagnosis and multidisciplinary care.
- Neonatal presentation includes respiratory failure, hyperthermia, and skeletal dysplasia.
Purpose of the Study:
- To report on five pediatric cases of STWS in the UK.
- To discuss the diagnostic odyssey and outcomes of these patients.
- To highlight the importance of molecular diagnosis and proactive management.
Main Methods:
- Case series reporting on five children diagnosed with STWS.
- Molecular testing to identify pathogenic variants in the LIFR gene.
- Clinical data collection on phenotype, genotype, and management.
Main Results:
- Five patients survived into childhood (up to 10 years), demonstrating improved outcomes.
- Molecular diagnoses included novel and previously reported LIFR variants.
- Phenotypic features included skeletal abnormalities, hyperthermia, and respiratory distress.
Conclusions:
- Early diagnosis and molecular testing are crucial for managing STWS.
- Multidisciplinary, proactive management improves survival and outcomes.
- Genetic counseling is essential for families affected by STWS.
Abstract:
Stüve-Wiedemann Syndrome (STWS) is an autosomal recessive condition caused by variants in the LIFR gene, presenting with respiratory failure, hyperthermia and skeletal dysplasia in the neonatal period. Historically identified as a lethal condition, more children are now managed holistically from early in life with multidisciplinary team involvement with improved outcomes. This stems from early diagnosis, supported by molecular testing in the pre and postnatal periods. This report includes five such cases with survival in childhood to 10 years old in the UK affected by skeletal abnormalities, hyperthermia, respiratory distress and their diagnostic odyssey. All cases have a molecular diagnosis; two patients (family 1) were found to be homozygous for a novel pathogenic LIFR variant NM_002310.5:c.704G > A, p.(Trp235Ter). One patient (family 2) is compound heterozygous with the previously reported LIFR variant NM_002310.5:c.756dup p.(Lys253Ter), and a second novel variant NM_002310.5:c.397+5G > A. Two patients (family 3) are homozygous for one of the same LIFR variants NM_002310.5:c.756dup p.(Lys253Ter) as in family 2. This report discusses genotypic and phenotypic data for five patients with STWS, as well as the need for multi-disciplinary, proactive management and genetic counselling.
