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Case Reports
. 2022;122(5):128-131.
doi: 10.17116/jnevro2022122051128.

[The coincidence of benign non-familial infantile seizures type 2 with osteogenesis imperfecta type 1]

[Article in Russian]
D V I  1   2 , V A Aysina  3
Affiliations
Case Reports

[The coincidence of benign non-familial infantile seizures type 2 with osteogenesis imperfecta type 1]

[Article in Russian]
D V I et al. Zh Nevrol Psikhiatr Im S S Korsakova. 2022.

Abstract
in English, Russian

A clinical case of a patient with neonatal epilepsy at the age of 5 months, with impaired bone formation, early osteoporosis and frequent limb fractures is described. Panel sequencing confirmed by Sanger sequencing revealed two independent hereditary diseases - osteogenesis imperfect type 1, associated with a mutation in the COL1A1 gene (c.2010delT) and benign non-familial infantile seizures associated with a mutation in the PRRT2 gene (c.649dupC). A unique clinical case of a combination of these diseases is presented.

Описан клинический случай пациента с неонатальной эпилепсией в возрасте 5 мес жизни, с нарушением формирования костной ткани, ранним остеопорозом и частыми переломами конечностей. Методами панельного секвенирования и подтверждающего секвенирования по Сэнгеру выявлены две независимые наследственные болезни — несовершенный остеогенез 1-го типа, ассоциированный с мутацией в гене COL1A1 (с.2010delT), и доброкачественные несемейные инфантильные приступы, ассоциированные с мутацией в гене PRRT2 (c.649dupC). Представлен уникальный клинический случай сочетания данных заболеваний.

Keywords: COL1A1 gene; PRRT2 gene; benign familial infantile seizures; benign non-familial infantile seizures; osteogenesis imperfect.

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