incontinentia pigmenti/פרכוס אפילפטי

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Incontinentia pigmenti presenting as seizures.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Incontinentia pigmenti is a rare disorder that may affect many systems including the skin, central nervous system, bone, and eyes. We describe a 13-day-old girl who developed seizures on day 1 of life and was placed on antiseizure medication. On approximately day 4 of life, she developed a vesicular

[Neonatal seizures revealing incontinentia pigmenti].

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Incontinentia pigmenti (IP) is a rare affection inherited as X-linked dominant disease. It is usually lethal in male infants. IP can affect ectodermal tissues such as the skin, teeth, eyes, bones, and the central nervous system. Skin lesions occur mostly during the neonatal period and are

A Female Child with Skin Lesions and Seizures: Case report of Incontinentia Pigmenti.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Incontinentia Pigmenti (IP), (OMIM # 308300), is a rare X-linked dominant condition. It is a multisystemic disease with neuroectodermal findings involving the skin, eyes, hair, nails, teeth, and central nervous system. It is usually lethal in males; the disease has variable expression in an affected

A rare cause of neonatal seizure: incontinentia pigmenti.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Incontinentia pigmenti (IP) is a rare genetic multisystem disorder that may affect many organs including the skin, bone, eyes and the central nervous system. Central nervous system manifestations are seen in 30% of cases with seizures and mental retardation. Seizures occurring as the presenting sign

[Neonatal convulsions caused by incontinentia pigmenti with left opercular dysgenesia].

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

OBJECTIVE In this paper we review the main publications on incontinentia pigmenti (IP) and the current knowledge of the etiopathogenesis of the disease and of the convulsions in the neonatal period, by considering a clear case of neonatal IP, with skin, eye, brain and bone lesions. METHODS Our

Neonatal seizures in two sisters with incontinentia pigmenti.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Familial incontinentia pigmenti (IP) (OMIM #308300) is a rare genetic disorder which segregates in an X-linked dominant way. The female-to-male ratio ranges from 20 to 37 : 1. In affected females IP causes highly variable abnormalities of the skin, hair, nails, teeth, eyes, and central nervous

Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti: a case report, literature review and insight into pathogenesis.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

METHODS A substance abusing G2P1 mother spontaneously delivered at term an appropriate for gestational age girl. Neonatal seizures appeared at 21 hours and empiric anticonvulsive and antimicrobial treatment was started. At 25 hours, first vesicles appeared. While routine evaluations remained normal,

Gene therapy decreases seizures in a model of Incontinentia pigmenti.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

OBJECTIVE Incontinentia pigmenti (IP) is a genetic disease leading to severe neurological symptoms, such as epileptic seizures, but no specific treatment is available. IP is caused by pathogenic variants that inactivate the Nemo gene. Replacing Nemo through gene therapy might provide therapeutic

Incontinentia pigmenti: presenting with neonatal seizures and diffuse MRI brain changes.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

[Bloch-Sulzberger incontinentia pigmenti with associated neurologic and ophthalmologic complications].

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

A female infant showing linear skin lesions arranged in an irregular way with bullae, vesicles, and erythema, which had predominantly affected her extremities since her birth, was examined by us at the age of one week. Histologic and immunofluorescence findings confirmed the preliminary diagnosis of

Clinical presentation and spectrum of neuroimaging findings in newborn infants with incontinentia pigmenti.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

To report on the neurological presentation and neuroimaging findings in newborn infants with incontinentia pigmenti. The clinical and neurological course including neuroimaging and follow-up data of eight newborn infants with the neurological phenotype of incontinentia pigmenti were retrospectively

[Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases].

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Incontinentia Pigmenti (IP, Bloch-Sulzberger syndrome, OMIM 308300) is a rare X-linked dominant genodermatosis, usually lethal in males in the prenatal period. Wide spectrum of clinical expression consists of skin hyperpigmented lines and swirling patterns, dysplastic teeth and nails, and in 30%

Incontinentia pigmenti: clinical observation of 40 Korean cases.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Incontinentia pigmenti (IP) is an uncommon genodermatosis that usually occurs in female infants. It is characterized by ectodermal, mesodermal, neurological, ocular, and dental manifestations. The aim of this study was to clarify clinical symptoms, accompanying diseases, and complications of IP.

Fatal pulmonary arterial hypertension in an infant girl with incontinentia pigmenti.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

We report the case of an infant girl with incontinentia pigmenti (IP) complicated by fatal pulmonary arterial hypertension (PAH). She was diagnosed with IP, based on the presence of specific skin lesions, neonatal seizures, hypereosinophilia and a maternal family history of IP. At the age of 2

Ocular lesions in incontinentia pigmenti.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Incontinentia pigmenti is a component of the Bloch-Sulzberger syndrome, which consists also of several major anomalies involving the central nervous system, skeleton, teeth, and the eye. Important manifestations include seizures, mental retardation, microcephaly, deformities of the skull and

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