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)

Autoscopy is an hallucinatory phenomenon during which the subject see his own image. It may be caused by organic processes like migraine, vascular diseases, tumoral lesions, and exceptionally by epileptic seizure. The case of 15 years old boy is reported, affected by hemianopia, surgically treated squint, who presented occipital epileptic seizures consisting of autoscopic hallucinations, leftward conjugate eye deviation, followed by a typical major seizures. A right parieto-occipital epileptic focus was a constant finding on EEG. On CT a poroencephalic cyst in the corresponding cerebral region could be demonstrated.
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PMID:[Autoscopic occipital seizures and occipital poroencephalic lesion: considerations on a case]. 622 85

Familial macrocephaly with mesodermal hamartomas is described as a distinct syndrome in nine individuals from four families. Constant manifestations include symmetrical macrocephaly without ventricular enlargement, mild neurological dysfunction, and postnatal growth deceleration. Speech and motor delays observed in all the children were usually well compensated by adulthood. Two children had mild mental retardation and seizures which may have been related to intracerebral hemorrhage in one. Mesodermal hamartomas were present in affected persons from all four families, with 60% of individuals manifesting only discrete lipomas and hemangiomas. More serious tumors, including intracerebral hemangiomas, hemangiomatous involvement of the bone, and aggressive lipomas occurred in 40%. Other findings that make it possible to delineate a recognizable syndrome include down-slanting palpebral fissures (66%), a high palate (67%), joint hyperextensibility (55%), pectus excavatum (22%), strabismus or amblyopia (33%), and prolonged drooling (44%). The Bannayan-Zonana syndrome is an autosomal-dominant trait with male predominance of affected individuals.
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PMID:Macrocephaly with hamartomas: Bannayan-Zonana syndrome. 650 73

Brain tumors are, after leukemias, the most frequent fatal neoplasms of infancy. The clinical features and symptoms are often markedly different from those observed in the adult forms, according to the peculiar anatomy and behaviour of the child. Persistent headache, vomiting, astenia , behavioral alterations may be the precocious findings. Later, some more specific and suggestive signs such as strabismus, dyplopia , fast head size increase, funduscopic alterations, ataxia, paresis and nystagmus may be observed. On their appearance a prompt diagnostic work-up should be performed. The tumors of the posterior fossa (cerebellar astrocytoma and medulloblastoma, brainstem glyoma , hependimoma in decreasing order of frequency) generally cause precocious symptoms because of the small dimension of the subtentorial space; the presence in this region of several fundamental nuclei and pathways may explain how also small tumors may cause severe deficits. Supratentorial tumors (astrocytoma, malignant glyoma , hependimoma , craniofaringioma ) often show a more prolonged latency and may begin with signs of endocranial hypertension, seizures, or sometimes with hormonal troubles according to the involved anatomic structures. Hypothalamic astrocytoma is responsible of an extreme weight loss as far as to a cachetic status, due to the hyperincretion of GH. Finally, plexus papilloma, dermoid, optic nerve glyoma , oligodendroglyoma , germinoma, teratoma are responsible of a small number of child brain tumors, with different localization and symptomatology.
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PMID:[Clinical course of brain tumors in childhood]. 673 95

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.
J Pediatr Ophthalmol Strabismus
PMID:Ocular lesions in incontinentia pigmenti. 686 15

In the past 10 years, 15 children with bilateral optic nerve hypoplasia have been studied at the Royal Alexandra Hospital for Children. There were 5 boys and 10 girls. Nine were first-born and they presented at a mean age of 5 months (range: 4 days to 25 months). Five presented with suspected blindness and 7 with abnormal eye movements (nystagmus or less commonly squint). The other 3 presented because of fits or developmental delay. Eight showed evidence of neural damage--microcephaly, seizures and/or abnormalities of tone. Four appeared to be of normal or near normal intelligence, 6 were mildly retarded and 5 severely so. Two patients had already died, one suddenly. Six of the 7 cases investigated in detail had evidence of hypothalamic pituitary dysfunction. Another one had a minimal hypothalamic abnormality. Four were severely growth retarded and 2 were receiving growth hormone replacement. Two males had micropenis and a girl had precocious puberty with partial diabetes insipidus. Neuroradiological investigations showed an absent septum pellucidum in only 5 cases. Five patients had other major CNS malformations. Five patients had normal CT scans; 3 of these 5 appeared of normal intelligence and all 5 had normal neurological examinations. Bilateral optic nerve hypoplasia is frequently associated with serious brain and endocrine abnormalities.
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PMID:Bilateral optic nerve hypoplasia. 692 92

A nine-week-old Caucasian male presented with right ptosis and right exotropia due to a third cranial nerve palsy. Symmetrical macular lesions and a paramacular hyperpigmented lesion with overlying vitreous cells in the left eye were compatible with congenital toxoplasmosis. Computer tomography demonstrated calcifications in the periventricular and midbrain regions where the oculomotor nerve exits the brainstem. The diagnosis was confirmed by the toxoplasma indirect fluorescent antibody titer greater than 1:2048 for the infant and greater than 1:512 for the mother. Treatment was instituted with pyrimethamine, sulfadiazine and folinic acid. Neurologic sequelae included a right hemiparesis, infantile seizures, and generalized developmental delay. A Mueller's muscle resection (RUL) combined with 9-mm recession of the right lateral rectus and 7-mm resection of the right medial rectus muscles produced minimal ptosis and right exotropia one year later. the child now prefers to fix with the right eye and a vertical nystagmus is evident in the left eye. To our knowledge this is the first reported case of an infant with noncomitant strabismus due to congenital toxoplasma cranial nerve involvement. The finding of an acquired third cranial nerve palsy accompanied by progressive neurologic sequelae warrants consideration of congenital toxoplasmosis.
J Pediatr Ophthalmol Strabismus
PMID:Congenital toxoplasmosis associated with acquired oculomotor nerve (CN III) palsy. 717 24

This communication brings the number of recognized cases of the C (trigonocephaly) syndrome to 11. The pattern of findings includes an anomaly of the anterior cranium and frontal cortex (trigonocephaly), the root of the nose (broad nasal bridge, epicanthus, and short nose), and palate (thick anterior alveolar ridges); abnormalities of the limbs (polysyndactyly, bridged palmar creases, short limbs, and joint dislocations and/or contractures); visceral defects (congenital heart defects, cryptorchidism, and abnormal lobulations of the lungs and kidneys). Auricular, mandibular, skin, and genital abnormalities also occur. Consistent neurological findings are hypotonia, strabismus, and psychomotor retardation; seizures have been reported. Normal chromosomes, normal parents with multiple affected offspring, equal sex ratio of affected individuals, and consanguineous matings all support autosomal recessive inheritance of the C syndrome. In autopsied cases, there has been a suggestion of defective central nervous system myelination. About 1/2 of the case have died within the first year. All survivors have severe to profound mental retardation except for one child who has moderate retardation.
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PMID:Further delineation of the C (trigonocephaly) syndrome. 725 28

Peroxisomal bifunctional enzyme complex deficiency is a recently recognized abnormality of fatty acid metabolism. We herein present the association of a flecked retina with peroxisomal bifunctional enzyme deficiency, a clinical association not previously reported. We suggest the finding of a flecked retina in an infant presenting with hypotonia, seizures, and failure to thrive is highly suggestive of this diagnosis.
J Pediatr Ophthalmol Strabismus
PMID:Peroxisomal bifunctional enzyme complex deficiency with associated retinal findings. 762 69

Cardio-facio-cutaneous (CFC) syndrome consists of heart defects, a characteristic facial appearance, ectodermal abnormalities, growth retardation and developmental delay. The authors report two children with this condition, drawing particular attention to the neurological manifestations. The neurological features are neuro-opthalmological findings such as strabismus, ptosis and nystagmus, cortical atrophy, ventriculomegaly, mental retardation, seizures and hypotonia. These manifestations may allow differentiation of CFC from Noonan syndrome, which shares many of the physical features, but not these neurological features.
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PMID:Cardio-facio-cutaneous (CFC) syndrome: neurological features in two children. 768 72

A 7 year old girl with intrachromosomal triplication 46,XX,-15,+der(15)(pter-->q13::q13-->q11::q11-->qter) resulting in tetrasomy of 15q11-q13 is reported. Fluorescence in situ hybridisation confirmed that the tetrasomic region included the entire segment normally deleted in Prader-Willi and Angelman syndrome patients, and breakpoints were similar to those reported in two tandem duplications of 15q11-q13. The middle repeat was inverted, suggesting a possible origin through an inverted duplication intermediate. Microsatellite analysis showed that the rearrangement was of maternal origin and involved both maternal homologues. Clinical findings included multiple minor anomalies (a fistula over the glabella, epicanthic folds, downward slanting palpebral fissures, ptosis of the upper lids, strabismus, a broad and bulbous tip of the nose, and small hands and feet), motor and mental retardation, a seizure disorder, and limited verbal abilities. In addition, immunological examination disclosed a selective immunodeficiency. The overall phenotype did not clearly resemble that of cases with tetrasomy 15pter-q13 associated with an extra inv dup(15)(pter-->q13:q13-->pter) chromosome. The latter aberration causes more severe mental deficit and intractable seizures, but less marked phenotypic alterations, although some overlap in mild facial dysmorphic features is present. A number of features common to Angelman syndrome were also observed in the patient.
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PMID:Intrachromosomal triplication of 15q11-q13. 783 57


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