ABSTRACT

INTRODUCTION. Microcephaly-capillary malformation syndrome (MIC-CAP syndrome; OMIM: 614261) is a rare severe autosomal recessive disorder characterized mainly by congenital microcephaly, multiple small capillary malformations of the skin, and drugresistant epilepsy with early onset. The disease results from a mutation in the STAMBP gene. To date, the worldwide prevalence
is less than 1:1000000 and less than 30 cases have been described.

CASE PRESENTATION. We present a case of MIC-CAP syndrome in a child with a homozygous mutation NC_000002.12:g.73831044A>G (c.188A>G, p.Tyr63Cys) in the STAMBP gene. In the clinical picture: congenital microcephaly, multiple capillary malformations, drug-resistant epilepsy with early onset, gross psycho-motor developmental delay. 

CONCLUSION. The presented case has all the main characteristic symptoms of the clinical picture of MIC-CAP syndrome. The peculiarity of the case can be considered the presence of renal multicystosis, which has not been previously described in this syndrome. In antiepileptic therapy, the best effect was obtained on duotherapy with valproate and vigabatrin with course addition of clobazam. Given the typical symptom complex of this syndrome, it is advisable to immediately search for a mutation in the STAMBP gene. 

KEYWORDS: microcephaly, capillary malformations, STAMBP gene, drug-resistant epilepsy

For citation: Korotkikh M.Yu., Korotkikh G.A., Shiryaeva N.O., Skrynnik A.R., Fedorchuk M.V. Microcephaly Syndrome with Capillary Malformations: Case Report. Comorbidity Neurology. 2024; 1 (1): 82–87. https://doi.org/10.62505/3034-185x-2024-1-82-87 (In Russ.)

*For correspondence: Mikhail Y. Korotkikh, Cand. Sci. (Med.), Associate Professor of the Department of Psychiatry and Neurology, Medical Institute, Orel State University, Orel, Russia, e-mail: m.korotkich@gmail.com.

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ADDITIONAL INFORMATION
Mikhail Yu. Korotkikh, Cand. Sci. (Med.), Associate Professor of the Department of Psychiatry and Neurology, Medical Institute, Orel State University, Orel, Russia. E-mail: m.korotkich@gmail.com. ORCID: https://orcid.org/0000-0002-8294-5280

Galina A. Korotkikh, functional diagnostics physician, Head of EEG-video monitoring laboratory, University Polyclinic, Orel State University, Orel, Russia. E-mail: g.korotkich@gmail.com. ORCID: https://orcid.org/0009-0007-3365-5408

Natalia O. Shiryaeva, Neurologist of the Neuropsychiatric Department for Children, Scientific and Clinical Multidisciplinary Center for Medical Care for Mothers and Children, Orel, Russia. E-mail: natali.doc@mail.ru. ORCID: https://orcid.org/0009-0001-3883-7362

Anastasia R. Skrynnik, Student, Medical Institute, Orel State University, Orel, Russia. E-mail: nastyacezаr@yandex.ru. ORCID: https://orcid.org/0009-0006-0222-8852

Maria V. Fedorchuk, Student, Medical Institute, Orel State University, Orel, Russia. E-mail: fedor4ukmv@yandex.ru. ORCID: https://orcid.org/0009-0005-1577-5655

Author contributions. All authors confirm the compliance of their authorship, according to international ICMJE criteria (all authors made a significant contribution to the development of the concept, research and preparation of the article, read and approved the final version before publication). Korotkikh M.Yu. — study design, analysis and synthesis of literature data, analysis and synthesis of clinical and paraclinical findings, analysis and correction of therapy, formulation of conclusions, preparation of the article for publication; Korotkikh G.A. — interpretation of the results of additional research methods, EEG-video monitoring; Shiryaeva N.O. — clinical examination and therapy; Skrynnik A.R. — collection of foreign literature data; Fedorchuk M.V. — collection of domestic literature data. 

Funding. This study was not supported by any external sources of funding. 

Disclosure. The authors declare that they have no competing interests.

Informed consent for publication. The authors obtained written consent from the patient for the analysis publication of medical data and all of accompanying images within the manuscript.

The content is available under the Creative Commons Attribution 4.0 License.

©2024. Mikhail Yu. Korotkikh, Galina A. Korotkikh, Natalia O. Shiryaeva, Anastasia R. Skrynnik, Maria V. Fedorchuk