Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 2-month-old girl with incontinentia pigmenti presented with acute-onset right-handed focalized seizures and subsequent seizure generalization. Computed tomography, magnetic resonance imaging and single photon emission computed tomography results indicated that she had multiple cerebral infarctions. These findings suggest that incontinentia pigmenti should be included among the neurocutaneous syndromes associated with ischemic strokes in childhood. This is the first report of a case with incontinentia pigmenti associated with cerebral infarction evaluated by single photon emission computed tomography.
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PMID:Cerebral infarction in incontinentia pigmenti: the first report of a case evaluated by single photon emission computed tomography. 920 6

We show the complications observed in a large series of children with hypomelanosis of Ito (HI) or incontinentia pigmenti achromians, studied in a neurology service over 30 years. Of the 76 patients, 35 were male (46%) and 41 female (54%) with ages ranging from newborn to 10 years at the time of the first visit. They were thoroughly studied from the clinical, genetic, psychological, neuroradiological, with computed tomography (CT) and/or magnetic resonance imaging (MRI), and electroencephalographic (EEG) points of view. Mental retardation was observed in 43 cases (57%) of whom eight (10%) showed autistic behavior; 16 (21%) were borderline and only 17 (22%) had a normal mental level (IQ > 85). Thirty-seven patients (49%) had seizures, consisting of infantile spasms in six cases (8%). Twelve cases showed macrocephaly and coarse facies, six had microcephaly, and 14 showed hypotonia with pes valgus and genu valgus. Three cases of cerebellar hypoplasia, another of intracranial arteriovenous malformation and another of distal spinal muscular atrophy were observed as well. Some other anomalies, such as syndactyly, clinodactyly, abnormalities of the skeleton, asymmetry of the facies, ears, body and/or extremities, gynecomastia and asymmetrical breasts, short stature, oral alterations, congenital cardiopathies and genital anomalies, were also occasionally found. Three children died, but necropsy was performed only in one. Anatomical and histological studies did not disclose specific findings.
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PMID:Hypomelanosis of ITO. A study of 76 infantile cases. 953 59

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 rash on her trunk and extremities. The pediatric team prescribed intravenous acyclovir and diphenhydramine cream. These were used without improvement. At dermatology consultation, linear and swirled vesicular lesions were seen. A skin biopsy specimen revealed eosinophils within intraepidermal vesicles consistent with a diagnoses of incontinentia pigmenti. This case of incontinentia pigmenti is of interest in that the initial symptom was a seizure disorder.
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PMID:Incontinentia pigmenti presenting as seizures. 1243 62

Incontinentia Pigmenti is an X-linked dominant neurocutaneous disorder with central nervous system manifestations in 30% of cases, including seizures and mental retardation. Ischemic or hemorrhagic cerebrovascular accidents have been reported rarely in incontinentia pigmenti. Chart review and literature search was performed following identification of the index case. We describe a patient with incontinentia pigmenti who developed bilateral cerebrovascular accidents in the neonatal period, with resultant severe neurologic sequelae. This is the second reported case of bilateral cerebrovascular accidents in a patient with incontinentia pigmenti. This finding may be secondary to cerebrovascular anomalies, similar to those observed in the retina. Recognition of cerebrovascular accidents as a complication of incontinentia pigmenti will hopefully lead to earlier recognition and treatment.
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PMID:Bilateral cerebrovascular accidents in incontinentia pigmenti. 1367 26

We report the case of a neonate with incontinentia pigmenti and seizures on day 4 of life who underwent magnetic resonance imaging and angiography scanning at 8, 13, and 21 days of age. The serial magnetic resonance images demonstrated the evolution of acute microvascular hemorrhagic infarcts in the periventricular white matter in the first week of life. The associated magnetic resonance angiogram findings consisted of decreased branching and poor filling of intracerebral vessels. This report adds important insights into the nature and timing of cerebral lesions in incontinentia pigmenti.
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PMID:Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. 1458 Jun 59

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 system (CNS). Cardiovascular anomalies, cerebral infarction, and immune dysfunction are rare complications of IP. The pathogenesis of cerebral changes in IP remains elusive. We report the case of two IP-affected sisters who presented in each case with neonatal seizures on the fifth day of life. Via cranial magnetic resonance tomographic imaging (MRI) different types of lesions in both hemispheres were demonstrable in both patients. To date the pathogenetic mechanisms for the cerebral lesions are not fully understood. However, multiple microscopic infarcts could serve as a possible explanation. The clinical course and the neurological development of the older child are favorable and so far the younger sibling appears to be developing normally, which is uncommon for patients with early onset of neurological symptoms. Symptomatic seizures in IP are an important differential diagnosis in benign non-familial and familial neonatal seizures.
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PMID:Neonatal seizures in two sisters with incontinentia pigmenti. 1512 15

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. Forty cases of IP have been reviewed by their medical records, laboratory data, clinical photographs, and telephone survey. Male-to-female ratio was 1 to 19 and their onsets were mostly in utero. They were usually diagnosed during the neonatal period owing to their early expression of skin manifestation. Central nervous system anomalies were found in 46.7%. Ocular disorders and dental defects were detected in 66.7% and 72.7% respectively. The most commonly diagnosed anomalies were hypodontia, retinopathy, and seizure. For better understanding of IP, long term and close cooperation between dermatologists, pediatricians, neuroscientists, genetic counselors, and even dentists is crucial.
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PMID:Incontinentia pigmenti: clinical observation of 40 Korean cases. 1677 92

Incontinentia pigmenti is an X-linked neurocutaneous disorder which is often lethal in males. Ectodermal tissues are involved, and affected females often have abnormalities of skin, teeth, hair, eyes, and the central nervous system. Central nervous system involvement ranges from none to multiple strokes, seizures, and mental retardation. Deletions in the nuclear factor kappa beta essential modulator gene at Xq28 are present in 70-80% of patients with incontinentia pigmenti. White matter abnormalities have been reported in females with significant neurologic involvement. This report describes a neurologically intact child with deletion positive incontinentia pigmenti with significant white matter involvement, broadening the scope of this finding in incontinentia pigmenti.
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PMID:Abnormal white matter in a neurologically intact child with incontinentia pigmenti. 1735 58

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 of IP are rarely reported. We report a case of a female newborn with IP who had seizures on day 4 of life, which were followed in her second month by the development of the characteristic cutaneous changes for IP. With this case report, we would like to emphasize the need for inclusion of IP in the differential diagnosis of neonatal seizures.
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PMID:A rare cause of neonatal seizure: incontinentia pigmenti. 1799 May 92

We report the case of a female Japanese infant who was diagnosed with incontinentia pigmenti (IP) on the basis of the clinical and pathological findings of characteristic skin lesions and the detection of deletion in the nuclear factor-kappa B essential modulator gene at Xq28. The patient developed repetitive seizures at the age of 7 months when she was diagnosed with acute disseminated encephalomyelitis (ADEM), an inflammatory demyelinating disease of the central nervous system that often occurs after vaccination or infection. The causative infectious agent in this patient seemed to be Mycoplasma pneumoniae because of the increased titer of its serum antibody and the detection of its DNA in the initial cerebrospinal fluid sample. This patient showed significant improvement on receiving immunosuppressive therapy with corticosteroids. This is the second case report presenting an IP patient susceptible to ADEM, and therefore, ADEM should be considered early in the differential diagnosis of acute neurological illness for IP patients.
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PMID:Acute disseminated encephalomyelitis in an infant with incontinentia pigmenti. 1880 69


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