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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of an infant with facial dysmorphism, congenital hydrocephalus, severe hypotonia and absence of psychomotor development, with ocular and cerebral malformations consistent with the diagnosis of Walker-Warburg syndrome (WWS). Investigations included a cerebral CT scan indicative of type II lissencephaly and a muscular biopsy which showed findings of muscular dystrophy. The association of hypotonia, developmental delay and seizures with a neuronal migration disturbance and retinal involvement raised the suspicion of a peroxisomal disorder. The pertinent biochemical investigations, however, were negative. The features of this syndrome are reviewed, emphasizing the similarities with other related disorders as cerebro-oculo-muscular syndrome. We suggest that muscle involvement should be investigated in every case of WWS.
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PMID:[Walker-Warburg syndrome: cerebro-ocular dysgenesis and congenital muscular dystrophy]. 261 34

A 4-year-old child with a ring 20 chromosome mosaicism, low grade developmental delay, and seizures is described.
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PMID:A case of the ring 20 syndrome. 275 59

Eighteen girls with Aicardi syndrome were identified through a survey of neurologists, geneticists, and ophthalmologists. All had infantile seizures, developmental delay, agenesis of the corpus callosum (complete: 72%, partial: 28%), and characteristic chorioretinal lacunar lesions. Costovertebral defects including hemivertebrae, scoliosis, and absent or malformed ribs were present in 39%, cortical heterotopias were present in 50%, and microphthalmia was identified in a third. Cytogenetic investigation was carried out in all families. An unbalanced X;3 translocation, 46,X,der(X)t(X;3)(p22.3;p23)mat, was discovered in a girl with chorioretinal lacunar lesions characteristic of Aicardi syndrome, developmental delay, and infantile seizures. However, this child had a normal appearing corpus callosum on CT and magnetic resonance imaging scans and therefore did not meet the criteria for inclusion in the study. Chromosomes of all other patients and parents were normal. Findings at birth, age of seizure onset, treatment, and prognosis are discussed. The pedigree data from these 18 families demonstrated an unaffected male:female sib ratio of 1:1.7 and a 14% spontaneous abortion rate. The findings of this study support the contention that Aicardi syndrome is an X-linked dominant disorder with early embryonic lethality in hemizygous males and that all cases represent new mutations.
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PMID:Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. 277 86

The authors report 2 familial cases of biotin deficiency. The first neurological signs appeared at the age of 2 years in a boy. The diagnosis was established in his sister in the neonatal period. A review of 41 published cases summarizes the neurologic signs (seizures, ataxia, hypotonia and later, developmental delay and deafness) and the cutaneous signs (rash, alopecia). An early treatment with biotin cures or prevents the clinical signs of the disease in most cases.
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PMID:[Biotidinase deficiency: a disease with neurologic and cutaneous expression susceptible to biotin]. 281 65

MR and clinical data on 31 patients with posterior fossa CSF collections were analyzed. A clear separation of these patients into classical categories was not possible because of new information obtained from the MR images. We present a new classification of these disorders. The Dandy-Walker malformation, Dandy-Walker variant, and mega-cisterna magna seem to represent a continuum of developmental anomalies of the posterior fossa. A possible embryologic basis for this continuum is suggested. Discrete posterior fossa CSF collections that are clearly separate from the fourth ventricle and vallecula are classified as posterior fossa cysts. Posterior fossa CSF collections that communicate with the fourth ventricle and are associated with cerebellar atrophy are classified as prominent cisterna magna. Both the Dandy-Walker complex and posterior fossa cysts can cause enlargement of the posterior fossa and scalloping of the inner table of the occipital bone. The Dandy-Walker complex presents with seizures, developmental delay, and enlarging head size; it requires CSF diversion when associated with hydrocephalus. Posterior fossa cysts present with symptoms of a posterior fossa mass; they generally require surgical resection. Prominent cisterna magna is a result of degenerative disorders and requires no surgical therapy. This new classification facilitates both diagnosis and therapy of these disorders. MR revealed that disorders previously referred to as the Dandy-Walker malformation, the Dandy-Walker variant, and the mega-cisterna magna actually are not separate entities, but appear to represent steps on a continuum of developmental anomalies of the posterior fossa. Because of this, we suggest a new term, the Dandy-Walker complex, be used to describe this continuum.
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PMID:Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging. 281 48

MR imaging is clearly becoming the imaging modality of choice in the evaluation of the brain in infants and children who have seizure disorders, developmental delay, or motor dysfunction suggesting a congenital brain malformation. The acquisition of high-quality images greatly improves the diagnostic accuracy of MR studies. This article outlines techniques that will allow the reader to obtain optimum brain MR studies in pediatric patients.
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PMID:Techniques and methods in pediatric magnetic resonance imaging. 307 67

Type I schizencephaly, which is less commonly recognized than the type II variety, consists of a "fused" cleft in the cerebral mantle. Its CT appearance is significantly different from the type II variety, and it may be confused with postdevelopmentally acquired lesions. The CT appearance of eight cases (seven girls and one boy, aged 10 months to 18 years) of type I schizencephaly was correlated with clinical findings and previously recorded neuropathologic features. Presenting symptoms included developmental delay, seizures, and hemiparesis. CT findings in each case showed a unilateral, cortically lined cleft in the parasylvian region extending from the hemispheric surface to the ventricle. Micropolygyria was present in the cortex lining the cleft, and in two of eight patients was also visible elsewhere in the cerebral cortex. Those with associated microcephaly (four of eight patients) had significantly more severe neurologic deficits than did those without microcephaly. CT findings in type I schizencephaly are characteristic and show excellent correlation with neuropathologic specimens. The appearance of these lesions can be explained on the basis of a disorder of neuronal migration in early gestation and they should not be confused with postdevelopmentally acquired lesions.
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PMID:Type I schizencephaly: CT and neuropathologic findings. 311 Dec 5

The clinical and electroencephalographic (EEG) features of absence seizures in children were evaluated using EEG frequency modulation radiotelemetry and videotape monitoring. The only seizures evaluated were those with a spike-and-wave or multiple spike-and-wave duration lasting at least 3 seconds. A total of 926 absence seizures (426 typical, 500 atypical) were reviewed in 54 patients. Abnormal interictal EEGs, multiple seizure types, mental retardation, or developmental delay were more likely in patients with atypical absence seizures than in patients with typical absence seizures. Both types of absence seizures usually had a clear onset and cessation. Atypical absence seizures lasted significantly longer than did typical absence seizures. Automatisms occurred more frequently in typical absence seizures than in atypical ones, while decreases in postural tone or tonic activity occurred more frequently in atypical absence seizures. Receptive and expressive speech were retained in some patients during both types of seizures. This study demonstrates that typical and atypical absence seizures are not discrete entities but rather form a continuum. No single clinical feature can adequately distinguish the two seizure types.
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PMID:Absence seizures in children: clinical and electroencephalographic features. 311 45

Heterotopic gray matter, which previously had been associated with severe congenital malformations of the brain and developmental delay, was found without these associated conditions. The authors found ten cases of heterotopic gray matter on magnetic resonance (MR) images. The lesions had a signal intensity that was isointense compared with that of gray matter on T1, spin-density, and T2-weighted images. Nine of the ten cases were associated with a seizure disorder. The tenth case, discovered during a workup for metastatic lung disease, was confirmed with pathologic studies. Heterotopic gray matter is the presence of cortical neurons in an abnormal location, which may be periventricular (nodular) or within the white matter (laminar). A knowledge of heterotopic gray matter and its association with seizures may prevent the misinterpretation of findings on MR images.
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PMID:Association of heterotopic gray matter with seizures: MR imaging. Work in progress. 313 31

A female patient is described with combined deficiency of sulphite, zanthine and aldehyde oxidase. She presented at the age of four weeks with intractable seizures. Initially the diagnosis was suspected because of a very low serum urate level (23 mumol/1-1). This condition can be easily missed and it is proposed that measurement of serum urate be included in the metabolic assessment of neonates with unexplained seizures and developmental delay.
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PMID:Molybdenum co-factor deficiency: an easily missed inborn error of metabolism. 316 94


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