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)

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

Grey matter heterotopias, demonstrated by MRI, may present with a broad spectrum of clinical severity. We have studied 33 patients with periventricular nodular heterotopias (PNH); 19 (58%) had unilateral and 14 (42%) bilateral lesions. Thirteen of the 19 patients (68%) with unilateral subependymal nodules of grey matter had, in addition, unilateral focal subcortical heterotopias (SNH), comprising 39% of the entire group. Most had normal intellectual and motor function but some presented with mild mental retardation and neurological deficits. Recurrent seizures were described in 82%, mainly partial attacks with temporo-parieto-occipital auras. Nodular heterotopias led to unilateral or bilateral independent temporal epileptic discharges in 47% of epileptic patients with PNH alone and in 61% of those who had SNH in addition. Extratemporal or multilobar, unilateral or bilateral interictal spiking was present in 10 other patients (36%). Two first degree relatives of patients with seizures were affected but had no seizures, three were investigated for other apparently unrelated neurological symptoms: memory impairment, vertigo or transient ischaemic attacks in one person each. Contiguous ovoid nodules of grey matter, symmetrically lining both lateral ventricles, were described in nine patients. Seven of them were female, including four with familial incidence of PNH. Such lesions may explain the familial occurrence of epilepsy in some families. Seven patients underwent anterior temporal resection: two patients with unilateral subependymal and focal subcortical heterotopias were seizure free or significantly improved. Four patients, three with PNH alone and one with additional subcortical nodules, did not improve significantly after surgery. The remaining patient was followed for less than 6 months.
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PMID:Periventricular and subcortical nodular heterotopia. A study of 33 patients. 749 86

Dubowitz syndrome is an autosomal recessive disorder of growth retardation, characteristic face, mild mental retardation, and eczema originally described by Dubowitz [1965]. Little information is available on natural history and adulthood in this disorder. We report on a 30-year-old woman who was one of the first patients to be diagnosed with the condition [Grosse et al., 1971, Z Kinderheilkd 110:175-187]. Microcephaly, short stature, leg length discrepancy, hyperextensible joints, spina bifida occulta, and absence of anterior cruciate ligaments were present. Her facial appearance had been modified by several plastic surgery procedures. Eczema resolved with age, with occasional flareups. Asthma, headaches, and seizures were additional medical findings. Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood. Mild mental retardation was present. At age 30 years she is living independently in her own apartment and working full-time in a nearby sheltered workshop.
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PMID:Dubowitz syndrome: long-term follow-up of an original patient. 753 94

Four boys aged 6-16 years with neurodevelopmental deficits were treated with CPAP for obstructive sleep apnoea. Their diagnoses were: Obesity with mild mental retardation, (2) attention deficit hyperactivity disorder, (3) epilepsy associated with left hemiparesis and (4) mild mental retardation due to fragile X syndrome. Previous therapeutic attempts, including adenotonsillectomy, amitriptyline and methylphenidate in our patients prior to CPAP treatment were unsuccessful. A follow-up period of 12-48 months demonstrated a number of clinical benefits such as improvement in sleep quality and daily arousal, and a decrease in the frequency of seizures and episodes of pneumonia. Polysomnographic studies indicated a significant improvement in sleep parameters such as apnoea frequency, awakenings, sleep efficiency and arterial oxygen saturation. Side effects were mild and readily alleviated. CPAP is a feasible therapeutic intervention in intractable obstructive sleep apnoea of childhood, even when associated with neurodevelopmental deficits.
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PMID:CPAP treatment of obstructive sleep apnoea and neurodevelopmental deficits. 754 99

Hennekam syndrome is a rare autosomal recessive syndrome which was described for the first time in 1989. Here, we present a girl with intestinal lymphangiectasia, severe lymphedema of limbs, seizures, mild mental retardation, and facial anomalies consistent with the diagnosis of Hennekam syndrome. In addition, she had an ectopic kidney and craniosynostosis of the coronal suture, 2 manifestations not previously reported in this syndrome. While the molecular basis of Hennekam syndrome remains, as yet, unknown, this report illustrates its variable clinical expression.
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PMID:Craniosynostosis and kidney malformation in a case of Hennekam syndrome. 764 2

Three cases of diffuse subcortical gray matter heterotopias in children are reported. Generalised seizures and mild mental retardation were the most frequent signs. No specific electroencephalographic pattern was recognized. Magnetic resonance imaging scans showed the thick diffuse layer of heterotopic gray matter which was surrounded by normal white matter. Gyration was normal, and no associated malformation was observed. This neuronal migrational disorder happens between the 10th and 16th gestational week. Nineteen observations (17 girls) are reported in the literature. The filiation with agyria-pachygyria and the possible genetic transmission are discussed.
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PMID:[Diffuse subcortical heterotopias of the gray matter]. 839 79

Prognosis of 175 psychoneurologically normal children with the onset of epilepsy after 18 months of age were studied. The remission rate of partial epilepsy (81 of 107 cases, 76%) was higher than that of generalized epilepsy (34 of 56 cases, 61%). Prognoses for patients with sleep epilepsy (52 of 62 cases, 84%) were better than those for patients with waking epilepsy (63 of 101 cases, 62%). Most (95%) of the children with sleep epilepsy had partial epilepsy, including benign childhood epilepsy with centrotemporal spike (BECT, 36 cases) and partial epilepsy other than BECT (23 cases). Benign courses were not limited to BECT patients. Generalized waking epilepsy other than absence had the lowest remission rate. Eleven children exhibited mild mental retardation on last examination. Most of them had atypical absence and/or myoclonic seizures with the onset of seizure before 3 years of age. It appeared important to classify the epileptic children with regard to time of seizure occurrence as well as seizure type to determine their prognoses.
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PMID:[Prognosis of epilepsy in psychoneurologically normal children]. 841 97

Anterior corpus callosotomy was performed in a patient with pseudobulbar palsy, mild mental retardation and intractable epilepsy related to congenital bilateral perisylvian cortical dysplasia. Before surgery, she had daily atonic drop attacks, rare and mainly sleep-related oromotor seizures, and multifocal and diffuse paroxysmal EEG discharges; after callosotomy, less abrupt atonic drop attacks recurred monthly and the EEG epileptiform abnormalities disappeared. Video-EEG sleep recordings revealed the clinically unsuspected serial recurrence of oromotor seizures, probably related to the clinically observed aggravation of dysarthria. New surgical techniques, in addition or alternative to callosotomy, should be developed in order to avoid or reduce the risk of aggravating some types of partial seizures in patients with bilateral cortical displastic lesions, intractable epilepsy and epileptic falls.
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PMID:Anterior corpus callosotomy: effects in a patient with congenital bilateral perisylvian syndrome and oromotor seizures. 853 19

We report the unusual association of Progressive Facial Hemiatrophy (Parry-Romberg syndrome) with multiple benign tumors (orbital neurinoma, mandibular odontogenous fibroma) and hamartomas. The neurological clinical features were infantile hemiplegia, mild mental retardation and focal seizures. Brain CT-scan and MRI showed porencephaly and cerebral calcifications ipsilateral to hemifacial atrophy. Immunological investigations proved negative. The etiology of the disease and the bridging of this case to phakomatoses are discussed.
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PMID:Progressive facial hemiatrophy with multiple benign tumors and hamartomas. 871 45

We examined an 18-year-old female and an 18-year-old male with mild mental retardation who suffered from the oscillatory form of sporadic essential myoclonus from an age of 3 years. Although the generalized oscillatory myoclonus resembled severe essential tremor, surface electromyography revealed small myoclonic jerks with frequencies of 6-8 Hz. As concomitant symptoms, the female case exhibited overanxious irritability from early childhood and generalized epileptic seizures occurred from the age of 4 years. In the male case, an obsessive-compulsive disorder and photosensitive convulsive seizures were persistently noted from early childhood. All their symptoms had been stable for at least the last 10 years. Thus, although non-progressive tremulous movements are rare in early childhood, sporadic essential myoclonus is causative. In contrast to hereditary essential myoclonus, sporadic essential myoclonus is considered to be more heterogeneous, especially in the various associated symptoms.
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PMID:Two cases of essential myoclonus, epilepsy, mental retardation and anxiety disorders. 933 74


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