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Journal of Pediatric Neurology 2018; 16(05): 319-327
DOI: 10.1055/s-0038-1667134
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Microcephaly-Capillary Malformation Syndrome

Andrea D. Praticò
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
2   Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom
,
Agata Polizzi
3   Institute of Neurological Sciences, National Research Council, Catania, Italy
,
Maria Teresa Garozzo
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
,
Concetta Pirrone
4   Section of Psychology, Department of Educational Sciences, University of Catania, Catania, Italy
,
Antonio Zanghì
5   Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania, Italy
,
Stefania Salafia
6   Unit of Pediatrics, Lentini Hospital, Lentini, Italy
,
Elena R. Praticò
7   Unit of Pediatrics, Carpi Hospital, Carpi, Italy
,
Federica Sullo
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
,
Flavia La Mendola
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
,
Martino Ruggieri
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
,
Nicoletta Resta
8   Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari “Aldo Moro,” Bari, Italy
› Author Affiliations
Further Information

Publication History

13 January 2018

12 May 2018

Publication Date:
20 August 2018 (online)

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Abstract

Microcephaly-capillary malformation is a relatively new syndrome, which has been reported since 2011 by three different research groups. It is an ultra-rare syndrome characterized by the co-occurrence of microcephaly and multiple capillary malformations in the skin, distal limb anomalies (ranging from nail dystrophy to total absence of one or more phalanxes and mostly localized in the foot), facial dysmorphisms, brain structural anomalies (reduced gyration, widened axial spaces, thin cortex, optic nerve atrophy), early-onset severe intractable epilepsy, and profound mental delay. Autosomal recessive mutations in STAMBP gene (2p13.1) have been reported as the only cause of the disorder, with a high penetrance. Currently, no definitive cure is available for the disorder, and treatment is mainly based on multiple antiepileptic drugs for the treatment of seizures, especially in the first years of life. Data on life-long concerns have not been reported, the older patient described so far being an 8-year-old boy.

Keywords

microcephaly - capillary malformation - limb anomalies - mental delay - epilepsy - STAMBP gene
 

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