Digital DiagnosticsDigital DiagnosticsDigital DiagnosticsDigital Diagnostics2712-84902712-8962Eco-Vector43015410.17816/DD430154Case reportsКлинические случаи и серии клинических случаев临床病例及临床病例的系列Research ArticleMagnetic resonance imaging for diagnosing a rare disease: incontinentia pigmenti (Bloch–Sulzberger syndrome) on the example of a clinical caseМагнитно-резонансная томография в диагностике редкого генетического заболевания ― недержания пигмента (синдром Блоха–Сульцбергера) ― на примере клинического случая磁共振成像在罕见遗传性疾病（即色素失禁症， 也称布洛赫-苏兹伯格综合征）诊断中的应用： 临床病例https://orcid.org/0000-0002-1272-51195591-8066YarmolaIgor I.ЯрмолаИгорь ИгоревичYarmolaIgor I.
Russian Federation
lord_dukich@bk.ruhttps://orcid.org/0000-0003-0362-65117592-1352AnikinAnatoly V.АникинАнатолий ВладимировичAnikinAnatoly V.
Russian Federation

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канд. мед. наук

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anikacor@gmail.comhttps://orcid.org/0009-0001-6779-8702GankinDmitry A.ГанькинДмитрий АлександровичGankinDmitry A.
Russian Federation
ganja-nn@yandex.ruhttps://orcid.org/0000-0002-3838-32841298-8350FominaLyubov E.ФоминаЛюбовь ЕвгеньевнаFominaLyubov E.
Russian Federation
love.fomina@mail.ruhttps://orcid.org/0000-0002-6912-14717379-8269KharitonovaNatalia A.ХаритоноваНаталия АлександровнаKharitonovaNatalia A.
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kharitonovan@nczd.ruhttps://orcid.org/0000-0003-1423-03796108-2016ZhaninIlya S.ЖанинИлья СергеевичZhaninIlya S.
Russian Federation

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zhaninis@nczd.ruhttps://orcid.org/0000-0001-6648-20632928-5764PushkovAleksandr A.ПушковАлександр . АлексеевичPushkovAleksandr A.
Russian Federation

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n1972z@yandex.ruhttps://orcid.org/0000-0003-2075-66685504-7154BasarginaMilana A.БасаргинаМилана АлександровнаBasarginaMilana A.
Russian Federation

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kharitonovan@nczd.ruhttps://orcid.org/0000-0002-6316-99929066-3698KondakovaOlga B.КондаковаОльга БорисовнаKondakovaOlga B.
Russian Federation

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n1972z@yandex.ruNational Medical Research Center for Children's HealthНациональный медицинский исследовательский центр здоровья детейNational Medical Research Center for Children's HealthShchelkovsky Perinatal CenterЩёлковский перинатальный центрShchelkovsky Perinatal Center2208202326092023433843921605202329062023Copyright ©; 2023, Eco-VectorCopyright ©; 2023, Эко-векторCopyright ©; 2023, Eco-Vector2023Eco-VectorЭко-векторEco-Vectorhttps://creativecommons.org/licenses/by-nc-nd/4.0https://jdigitaldiagnostics.com/DD/article/view/430154

Incontinentia pigmenti, also known as Bloch–Sulzberger syndrome, is a rare hereditary disease characterized by typical skin rashes and involvement of other organs and systems. Magnetic resonance imaging stands as the primary method for visualizing the structural pathology of the brain and predicting neurological manifestations in an affected child.

Diagnosing incontinentia pigmenti predominantly falls within the domain of dermatologists; verification is performed by molecular genetic analysis of the IKBKG gene. This study involved magnetic resonance imaging of the brain in a patient with skin rashes, characteristic of Bloch–Sulzberger syndrome, and deletion in the IKBKG gene, where numerous foci of ischemia, hemorrhages, and lesions of the tracts were detected.

Magnetic resonance imaging of the brain in patients with Bloch–Sulzberger syndrome is used to evaluate the severity of damage to the brain substance, which makes it possible to explain the cause of neurological symptoms and correct habilitation, as well as predict the development of the child.

Недержание пигмента (синдром Блоха–Сульцбергера) ― редкое наследственное заболевание, проявляющееся характерными кожными высыпаниями и поражением других органов и систем. Магнитно-резонансная томография является приоритетным методом для визуализации структурной патологии головного мозга и прогноза неврологической манифестации у ребёнка.

Ключевая роль диагностики заболевания недержания пигмента принадлежит дерматологу; подтверждающая диагностика проводится путём молекулярно-генетического анализа гена IKBKG.

В представленном клиническом наблюдении у новорождённой девочки с высыпаниями на кожных покровах, типичными для синдрома Блоха–Сульцбергера, и выявленной делецией в гене IKBKG проводилась магнитно-резонансная томография головного мозга, где были обнаружены многочисленные очаги ишемии, кровоизлияния и поражение проводящих путей.

Магнитно-резонансная томография головного мозга у пациентов с синдромом Блоха–Сульцбергера используется для оценки тяжести поражения вещества мозга, что позволяет объяснить причину неврологических симптомов, скорректировать реабилитационные мероприятия, а также прогнозировать развитие ребёнка.

色素失禁症（布洛克-苏兹伯格综合征，Bloch-Sulzberger Syndrome）是一种罕见的遗传性疾病，表现为特征性皮疹以及其他器官和系统的损坏。磁共振成像是显示出大脑结构病变和预测儿童神经系统表现的优先方法。

皮肤科医生在色素失禁症的诊断中起着关键作用；需要通过对IKBKG基因进行分子遗传分析，以确诊。

一名新生女婴患有典型的布洛赫-苏兹伯格综合征皮疹和IKBKG基因缺失，在进行脑磁共振成像检查后，医生发现了多处缺血、出血和传导通路病变。

布洛赫-苏兹伯格综合征患者的脑磁共振成像可用于评估脑物质损坏的严重程度，这有助于解释神经症状的原因、调整康复措施和预测患儿的发展。

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