A Rare Case That can be Confused with Cerebral Palsy: Incontinentia Pigmenti

Abstract

Incontinentia pigmenti (IP), which is inherited predominantly on the X chromosome, is organ involvement arising from ectoderm and mesoderm; It is a rare disease that primarily affects the central nervous system, skin, eyes, and teeth. The neurological findings seen in this disease resemble the clinical features of Cerebral Palsy (CP) in later stages. CP is a childhood syndrome characterized by non-progressive, permanent motor impairment due to damage to the mature brain. Especially in centers focused on physical therapy and rehabilitation, some neurological diseases of different etiologies whose diagnosis is not clear are considered as CP, and perhaps for this reason patients are exposed to incorrect treatment. In this regard, we aimed to present the characteristics of the rare genetically inherited IP, which brings CP to mind in the first evaluation, different from CP and similar features to CP. Our case, a 48-month-old baby girl, was taken to the hospital immediately after birth due to extensive wounds on her body. IP was diagnosed through detailed examination and genetic screening. The patient had motor retardation and musculoskeletal problems. The family applied to our department due to the patient's neurological findings and developmental problems.