Sudden death in an 8-week-old infant with Ceckwith-Wiedemann syndrome

M. E. Herrmann, Darinka Mileusnic, M. Jorden, M. B. Kalelkar

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

The authors report a case of a 2-month-old girl diagnosed with Beckwith-Wiedemann syndrome (BWS) who was born prematurely and died suddenly in the hospital just before being discharged. BWS is a malformation syndrome associated with an increased risk of childhood tumors. The major features of BWS are macroglossia, abdominal wall defects, and visceromegaly, frequently leading to premature birth. Due to complex inheritance patterns, a predominance of nonfamilial cases, and the variability in expression of the features (termed incomplete penetrance), the risk of delayed diagnosis is evident. Secondary to hyperplastic pancreatic islands, hypoglycemia occurs frequently, and if not anticipated, adequate measures for prevention of hypoglycemic episodes may be delayed, resulting in possible intellectual deficits. The infant presented here died of natural causes: immaturity of the lungs resulting in marginal respiratory function and compounded by increased risk for asphyxia secondary to the enlarged tongue. The clinical history and findings in this infant are discussed in respect to the genetic syndrome with their relevance to medicolegal examination and the causes and manner of death.

Original languageEnglish (US)
Pages (from-to)276-280
Number of pages5
JournalAmerican Journal of Forensic Medicine and Pathology
Volume21
Issue number3
DOIs
StatePublished - Sep 13 2000
Externally publishedYes

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Beckwith-Wiedemann Syndrome
Sudden Death
Macroglossia
Inheritance Patterns
Penetrance
Delayed Diagnosis
Asphyxia
Premature Birth
Abdominal Wall
Hypoglycemia
Hypoglycemic Agents
Islands
Cause of Death
Lung
Neoplasms

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

Cite this

Sudden death in an 8-week-old infant with Ceckwith-Wiedemann syndrome. / Herrmann, M. E.; Mileusnic, Darinka; Jorden, M.; Kalelkar, M. B.

In: American Journal of Forensic Medicine and Pathology, Vol. 21, No. 3, 13.09.2000, p. 276-280.

Research output: Contribution to journalArticle

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