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Angelman's syndrome in infancy

K A Yamada1, J J Volpe

  • 1Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.

Developmental Medicine and Child Neurology
|November 1, 1990
PubMed

Insights

Angelman syndrome, characterized by a 15q11 x 2-12 chromosomal deletion, can present in infancy with growth failure and delayed development, enabling early diagnosis. Awareness of these early clinical signs is crucial for timely intervention.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Angelman syndrome is a genetic disorder typically diagnosed later in childhood.
  • Early diagnosis is crucial for effective management and intervention.

Observation:

  • An 11-month-old infant presented with clinical features suggestive of Angelman syndrome.
  • The patient exhibited pronounced postnatal growth failure, delayed dentition, and delayed ossification of growth centers.
  • Low amniotic fluid alpha-fetoprotein was detected at 16 weeks gestation; head MRI revealed generalized atrophy.

Findings:

  • The patient was diagnosed with Angelman syndrome due to a 15q11 x 2-12 chromosomal deletion.
  • This case demonstrates that Angelman syndrome's clinical features can manifest in infancy.
  • A genetic marker similar to that of Prader-Willi syndrome was noted in some affected individuals.

Implications:

  • Early recognition of infantile Angelman syndrome symptoms can lead to earlier diagnosis.
  • Increased awareness among clinicians regarding early signs can improve patient outcomes.
  • Understanding the genetic basis, including chromosomal deletions, aids in differential diagnosis.

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