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A case of Pai syndrome
1First Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Okayama University, Japan.
Plastic and Reconstructive Surgery
|January 23, 1999
Summary
This case study describes a female infant with features of Pai syndrome, including facial clefts and nasal masses. Despite a corpus callosum lipoma, the patient remained neurologically normal, highlighting potential variations in this rare condition.
Area of Science:
- Medical Genetics
- Pediatric Neurology
- Dermatology
Background:
- Pai syndrome is a rare genetic disorder characterized by specific craniofacial anomalies.
- Understanding the spectrum of clinical manifestations and associated findings is crucial for diagnosis and management.
Observation:
- A female infant presented with median upper lip cleft, nasal polypoid skin mass, conjunctival lipoma, and median alveolar cleft.
- Histological examination of the nasal mass revealed mature adipose tissue without cartilage.
- A computed tomographic scan identified a lipoma of the corpus callosum.
Findings:
- The patient exhibited key features suggestive of Pai syndrome.
- Despite the presence of a corpus callosum lipoma, neurological examinations and electroencephalogram were normal.
- Growth and development were within normal limits, with no history of convulsions.
Implications:
- This case expands the known clinical variability of Pai syndrome.
- It suggests that corpus callosum lipomas may occur in Pai syndrome without significant neurological impairment.
- Further research is needed to fully elucidate the genotype-phenotype correlations in Pai syndrome.