Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea
Yeon-Chul Choi1, Mi-Sun Yum1, Min-Jee Kim1
1Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Ulsan, Korea.
Abstract:
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics.
Insights
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare condition. This report details a case study, highlighting distinctive features to aid in diagnosing this complex neurological disorder.
Area of Science:
- Genetics and rare diseases
- Pediatric neurology
- Medical case reports
Background:
- Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare genetic disorder.
- Previously known by other names, MCAP presents with progressive megalencephaly, midline capillary malformations, and limb anomalies.
- MCAP requires precise diagnostic criteria due to its complex presentation.
Purpose of the Study:
- To report a unique case of MCAP in a female infant.
- To describe distinctive neuroradiological and morphological features of MCAP.
- To review existing literature and diagnostic criteria for MCAP to improve clinical diagnosis.
Main Methods:
- Case report of a female infant meeting MCAP criteria.
- Detailed description of neuroradiological findings.
- Morphological feature documentation.
- Literature review of MCAP reports and diagnostic criteria.
Main Results:
- The reported infant case exhibited key features consistent with MCAP.
- Distinctive neuroradiological and morphological characteristics were identified.
- The review synthesized current understanding and diagnostic approaches for MCAP.
Conclusions:
- Accurate diagnosis of MCAP is crucial for affected children.
- This case and review contribute to refining diagnostic strategies for MCAP.
- Improved diagnostic clarity can facilitate timely intervention and management in pediatric neurology.
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