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Unexpected death of a 12 year old boy with monosomy 1p36

L M Neumann1, T Polster, T Spantzel

  • 1Institute of Human Genetics, Charité Campus Virchow-Klinikum, 13353 Berlin, Germany. luitgard.neumann@charite.de

Genetic Counseling (Geneva, Switzerland)
|April 16, 2004
PubMed

Insights

This case report details a 12-year-old boy with 1p36 deletion syndrome who experienced sudden death. The study highlights rare symptoms like transient hemiparesis and circulatory shock in this genetic disorder.

Area of Science:

  • Genetics
  • Clinical Medicine
  • Pediatrics

Background:

  • Monosomy 1p36 is a chromosomal microdeletion syndrome.
  • It can present with a range of clinical features, including developmental delay and dysmorphic features.

Observation:

  • A 12-year-old boy with suspected 1p36 deletion exhibited mild dysmorphism, short stature, moderate intellectual disability, seizures, and obesity.
  • He presented with transient unilateral muscle weakness and atonic hemiparesis.
  • Following a mild infection, he experienced severe circulatory shock, leading to brain edema, apallic syndrome, and death.

Findings:

  • Fluorescent in situ hybridization (FISH) confirmed the 1p36 deletion despite a normal karyotype.
  • The patient's clinical presentation included previously unreported episodes of transient hemiparesis and sudden death.
  • The rapid decline after infection suggests a potential link between infection, circulatory shock, and the underlying genetic condition.

Implications:

  • This case expands the known clinical spectrum of monosomy 1p36.
  • It underscores the importance of considering genetic testing for 1p36 deletion in patients with unexplained neurological symptoms and developmental issues.
  • The report highlights the potential for severe, unexpected complications, including sudden death, in individuals with this syndrome.

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