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Widespread capillary malformation associated with global developmental delay and megalencephaly
Suzanne N Leech1, Aileen E M Taylor, Venkat Ramesh
1Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, UK Department of Paediatric Neurology, Newcastle General Hospital, Newcastle upon Tyne, UK Department of Radiology, Newcastle General Hospital, Newcastle upon Tyne, UK Department of Clinical Genetics, Centre for Life, Newcastle upon Tyne, UK.
Clinical Dysmorphology
|June 15, 2004
Summary
A rare case of widespread port wine stains in a child was linked to brain abnormalities. This finding suggests a potential connection between skin vascular malformations and neurological conditions like static gliosis.
Area of Science:
- Neurology
- Dermatology
- Pediatrics
Background:
- Port wine stains (PWS) are common vascular birthmarks, affecting 0.3% of newborns.
- Widespread cutaneous capillary malformations are infrequent.
- The association between PWS and neurological conditions, particularly static gliosis, is not well-documented.
Observation:
- A 3-year-old boy presented with a pervasive port wine stain covering a significant portion of his skin.
- The child exhibited megalencephaly (abnormally large head size) and global developmental delay.
- Brain magnetic resonance imaging (MRI) revealed features indicative of static gliosis.
Findings:
- This case highlights an unusual presentation of widespread capillary malformations.
- The co-occurrence of extensive port wine stains, megalencephaly, global developmental delay, and static gliosis is reported for the first time.
- The findings suggest a potential syndromic association.
Implications:
- This case broadens the understanding of potential neurological comorbidities associated with extensive port wine stains.
- Further research is warranted to investigate the underlying mechanisms connecting cutaneous vascular anomalies and brain development.
- Early recognition and multidisciplinary management may be crucial for affected children.