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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

Summary

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.

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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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