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 case is described which, at birth, had a bizarre pattern of hypopigmentation (incontinentia pigmenti achromians), ectrodactyly involving all four extremities, and unilateral cleft lip and palate. This patient does not have the seizures or other neurological and developmental anomalies previously described as associated with hypopigmentation of Ito. This condition is also clearly different from the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC).
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PMID:A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians). 29 Apr 27

A Japanese girl with incontinentia pigmenti had characteristic skin lesions at birth. The diagnosis was confirmed by skin biopsy and positive family history. Her mother and sisters also suffered from IP. She had generalized tonic seizures at 1 month of age, and infantile spasms at 7 months. ACTH therapy was very effective to infantile spasms. At 9 years now, she is suffering from atypical absence, mild mental retardation and mild left hemiparesis. MRI revealed marked atrophy of the cerebral white matter predominantly around the posterior horn of right lateral ventricle, cystic lesions in the white matter around the anterior horns of both lateral ventricles, which were not clear by CT scan, and atrophy of the right cerebral peduncle and pontine basis. Although these findings are non-specific, they may be clues which explicate the mechanism of central nervous system involvement in incontinentia pigmenti.
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PMID:[Cerebral white matter lesions in a case of incontinentia pigmenti with infantile spasms, mental retardation and left hemiparesis]. 204 71

We describe 15 patients with incontinentia pigmenti whom we have followed up from two to 11 years. This longitudinal approach allowed us to observe the course of the skin lesions and developmental progress of these children. We found that in contrast to what has been previously reported in most of the literature, the bullous and verrucous lesions do not always resolve during the first or second year of life and may recur throughout childhood. Although most patients with incontinentia pigmenti are of normal intelligence, those with neonatal seizures have a poor prognosis for normal development.
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PMID:Incontinentia pigmenti. A longitudinal study. 240 93

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 incontinentia pigmenti. Electron microscopic investigations were additionally made. In the course of the disease, we observed the characteristic development of a warty and a pigmented stage. The disease was complicated by epileptic seizures, motor disturbances, and ocular defects. EEG, CT, and ultrasound revealed anomalies. Since her mother reports on similar skin lesions during her own childhood, we suspect an X-chromosomal genetic defect.
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PMID:[Bloch-Sulzberger incontinentia pigmenti with associated neurologic and ophthalmologic complications]. 318 3

Hypomelanosis of Ito (incontinentia pigmenti achromians), a sacrococcygeal complex dysembryoma, seizures, severe cerebral lesions, mental retardation, chorioretinal atrophy, hemihypotrophy of the body, and skeletal anomalies are reported in a female infant of North African origin. Karyotype analysis revealed mosaicism for a microdeletion of the proximal region of 15q similar to that observed in Willi-Prader syndrome. The possibility of gene assignment of Ito's disease or that it may represent a nonspecific marker for mosaicism are discussed.
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PMID:Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. 346 61

Incontinentia pigmenti (IP) has been associated with CNS involvement, including seizures, retardation, motor abnormalities, and malformations in greater than 30% of patients. Motor symptoms include spasticity and hyperreflexia; however, weakness and flaccidity have also been described. Peripheral nervous system neuropathology in patients with IP has not previously been reported. The infant with IP in this report showed generalized weakness due to anterior horn cell degeneration. The neuropathologic findings in both the central and peripheral nervous systems will be reviewed and contrasted to previous reports. Patients with IP and weakness should undergo neurodiagnostic evaluation of peripheral nervous system function.
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PMID:Incontinentia pigmenti: association with anterior horn cell degeneration. 382 37

We describe a family in which two males and seven females have brown pigmentation of the skin. In the females, the type and distribution of the pigmentation mimicked incontinentia pigmenti; in the males, the pattern was reticulate. The histological appearance was the same in both sexes with amyloid deposits in the papillary dermis, melanin in the basal layer, and slight hyperkeratosis. The females were otherwise normal. Both males had thrived poorly as infants but had survived. One had severe gastroenteritis with blood in the stools starting at the age of three weeks followed by seizures, hemiplegia, and developmental delay; the other had recurrent pneumonia throughout life, a urethral stricture, inguinal herniae, and near-blindness from amyloid deposition in the cornea. Five other males in the family had had severe illnesses. Two died of pneumonia by three months. One died at three months from colitis. Both remaining boys had colitis as infants, failed to thrive, and developed recurrent pneumonia from which one died at three years. We think all of these relatives had the same disease carried by a single gene with pleiotropic effects. The most likely form of inheritance is X-linked.
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PMID:Familial cutaneous amyloidosis with systemic manifestations in males. 679 69

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 vertebrae, cleft palate, dystrophy of the nails, and abnormal or missing teeth. Although usually listed as a disease with which congenital cataract is associated, the more important ocular findings are those of the posterior segment, resembling lesions that enter into the differential diagnosis of the white pupil. The skin disturbance is characteristic and occurs very early in life; it may disappear entirely, obscuring the diagnosis if the ocular lesions are discovered later. The Bloch-Sulzberger syndrome usually is inherited as an X-linked dominant with lethality for males. It is a rare but important entity to the pediatric ophthalmologist.
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PMID:Ocular lesions in incontinentia pigmenti. 686 15

A female infant had erythematous vesicular skin lesions over the whole body and extremities in the early infancy. These skin lesions then changed to hyperpigmentation in whorls and splashes. Seizure attack was noted at one month old. Skin biopsy showed dyskeratosis, acanthosis, pigmenti incontinence, and massive infiltration of eosinophils. So Incontinentia pigmenti was confirmed. She also had hallmarks of retinal involvement, including peripheral retinal ischemia and neovascularization, which were similar to those seen in retinopathy of prematurity. Cryopexy was performed in her left eye and the lesions regressed.
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PMID:Retinopathy in incontinentia pigmenti: a neonatal case report. 761 73

We report a 2-day-old neonate with incontinentia pigmenti combined with destructive encephalopathy. Generalized seizures developed soon after birth; characteristic papulovesicles and hyperpigmented linear streaks appeared several days later. The brain CT scan showed multiple low density areas with cortical atrophy and ventricular enlargement. Histopathological examination favored the diagnosis of incontinentia pigmenti. Although a series of microbiological examinations failed to identify any infectious agent, the patient was still treated vigorously with anticonvulsants, systemic antibiotics, and acyclovir from the beginning of hospitalization. However, the seizures persisted, and the patient died 26 days after birth. Our report suggests that incontinentia pigmenti with encephalopathy may have a fatal prognosis.
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PMID:Destructive encephalopathy in incontinentia pigmenti: a case report. 767 53


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