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Diagnosis and Treatment > Signs and Symptoms > Ears - pinna abnormalities

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Saurabh Uppal Departments of Paediatric Endocrinology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK

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James Blackburn Departments of Paediatric Endocrinology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK

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Mohammed Didi Departments of Paediatric Endocrinology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK

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Rajeev Shukla Departments of Pathology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK

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James Hayden Departments of Oncology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK

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Senthil Senniappan Departments of Paediatric Endocrinology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK
Institute of Child Health, University of Liverpool, Liverpool, UK

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Summary

Beckwith–Wiedemann syndrome (BWS) can be associated with embryonal tumours and congenital hyperinsulinism (CHI). We present an infant with BWS who developed congenital hepatoblastoma and Wilms’ tumour during infancy. The infant presented with recurrent hypoglycaemia requiring high intravenous glucose infusion and was biochemically confirmed to have CHI. He was resistant to diazoxide but responded well to octreotide and was switched to Lanreotide at 1 year of age. Genetic analysis for mutations of ABCC8 and KCNJ11 were negative. He had clinical features suggestive of BWS. Methylation-sensitive multiplex ligation-dependent probe amplification revealed hypomethylation at KCNQ1OT1:TSS-DMR and hypermethylation at H19 /IGF2:IG-DMR consistent with mosaic UPD(11p15). Hepatoblastoma was detected on day 4 of life, which was resistant to chemotherapy, requiring surgical resection. He developed Wilms’ tumour at 3 months of age, which also showed poor response to induction chemotherapy with vincristine and actinomycin D. Surgical resection of Wilms’ tumour was followed by post-operative chemotherapy intensified with cycles containing cyclophosphamide, doxorubicin, carboplatin and etoposide, in addition to receiving flank radiotherapy. We report, for the first time, an uncommon association of hepatoblastoma and Wilms’ tumour in BWS in early infancy. Early onset tumours may show resistance to chemotherapy. UPD(11p15) is likely associated with persistent CHI in BWS.

Learning points:

  • Long-acting somatostatin analogues are effective in managing persistent CHI in BWS.

  • UPD(11)pat genotype may be a pointer to persistent and severe CHI.

  • Hepatoblastoma and Wilms’ tumour may have an onset within early infancy and early tumour surveillance is essential.

  • Tumours associated with earlier onset may be resistant to recognised first-line chemotherapy.

Taxonomy:
Clinical Overview, Gland/Organ, Kidney, Liver, Pancreas, Topic, Genetics and mutation, Paediatric endocrinology, Tumours and neoplasia, Hormone, Insulin, Condition/ Syndrome, Congenital hyperinsulinism, Hyperinsulinaemia, Hyperinsulinaemic hypoglycaemia, Hypoglycaemia, Patient Demographics, Age, Neonatal, Gender, Male, Ethnicity, White, Country of Treatment, United Kingdom, Diagnosis and Treatment, Signs and Symptoms, Ears - pinna abnormalities, Hepatomegaly, Hyperinsulinaemia, Hypoglycaemia, Macroglossia, Investigation, Alpha-fetoprotein, Beta-hydroxybutyrate, CD-56, Glucose (blood), Histopathology, Immunohistochemistry, Insulin, Molecular genetic analysis, MRI, Ultrasound-guided biopsy, Ultrasound scan, Intervention, Chemotherapy, Radiotherapy, Resection of tumour, Medication, Anthracyclines, Carboplatin, Cisplatin, Diazoxide, Doxorubicin, Etoposide, Glucagon, Glucose, Lanreotide, Octreotide, Somatostatin analogues, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-18-0146
Volume/Issue:
Volume 2019: Issue 1
Open access