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

It is often thought that survivors of congenital diaphragmatic hernia (CDH) have an isolated problem related to lung hypoplasia, and little data exist regarding the extrapulmonary problems of high-risk CDH patients who do survive. In 1990, the authors began a multidisciplinary follow-up clinic for CDH patients. Members of the program include representatives from the departments of surgery, pulmonary medicine, development, nursing, and nutrition. Since this program began, the authors have followed up on 33 infants who survived after treatment of high-risk CDH, ie, those who were symptomatic within 6 hours of birth. Twenty patients were treated with extracorporeal membrane oxygenation (ECMO). Neurological problems were common in these patients: seven children (21%) required hearing aids, and seven others had abnormal results with brain-stem auditory evoked response (BAER) testing. Extraaxial fluid collections or enlarged ventricles were present on head computed tomography scans of 10 children, and four children had clinical seizure activity. Fifteen patients had developmental delays, which improved rapidly once the children began to thrive. Six patients required eyeglasses or had strabismus, and one patient is congenitally blind. There were a variety of problems related to growth and nutrition, with six patients needing fundoplications, and 13 patients below the fifth percentile for weight. Of 10 patients with patch repairs, two had recurrent hernias. Six others required surgery for bowel obstruction. Eleven patients had pectus excavatum, usually mild, and four had mild to moderate degrees of scoliosis. There were undescended testicles in five boys, vesicoureteral reflux in two patients, and kidney stones in two patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Congenital diaphragmatic hernia: the hidden morbidity. 817 2

A new group of recessively inherited metabolic disorders affecting glycoprotein metabolism has been identified--the carbohydrate-deficient-glycoprotein (CDG) syndromes. Here the course and clinical expression of CDG syndrome type I in 13 patients who have passed the age of 15 years are described. All presented with early onset psychomotor retardation, in most cases combined with slight facial dysmorphic features, some degree of hepatic dysfunction, and in one case, pericardial effusion. About half of the patients had subcutaneous lipodystrophy and comatose or stroke-like episodes during childhood. After the age of 15 the disease was mainly characterised by neurological symptoms consisting of non-progressive ataxia associated with cerebellar hypoplasia, stable mental retardation, variable peripheral neuropathy, and strabismus. One third of the patients had generalised seizures, usually sporadic, and all had retinal pigmentary degeneration. In all cases there was more or less pronounced thoracic deformity and no female had passed puberty. Also, the oldest female showed premature aging. Severe internal organ symptoms, which are common in pediatric patients, were absent. All patients had highly raised serum concentrations of the biochemical marker carbohydrate-deficient transferrin, which can be used to verify the diagnosis. It is concluded that after childhood, CDG syndrome type I is a largely non-progressive disease compatible with a socially functioning but dependent lifestyle.
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PMID:Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease. 820 22

Two hundred children from one neonatal intensive care unit (NICU), who were very low birthweight (VLBW), were examined at approximately 9 years of age and compared with a control group of normal birthweight children. Visual morbidity was significantly higher among children who were very low birthweight. Binocular visual acuity of 6/9 or worse was noted in 21 (10.5%), strabismus in 38 (19%) and regressed retinopathy of prematurity (ROP) in 13 (6.7%) of these children. A history of seizures in the perinatal period was highly correlated with poor visual acuity. Independently significant factors associated with strabismus included clinically diagnosed intraventricular haemorrhage, a maternal history of neonatal death, transfer from another hospital, bronchopulmonary dysplasia and necrotising enterocolitis. Perinatal variables that correlated with regressed ROP included birthweight, time from birth to admission to the NICU, necrotising enterocolitis and a history of maternal smoking during the pregnancy. When screening for ocular abnormalities among children who were born preterm, particular attention should be given to children with these risk factors.
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PMID:Perinatal predictors of ocular morbidity in school children who were very low birthweight. 829 Mar 81

A regional population-based survey identified six patients with pyridoxine dependency. Four presented on the first day of life and the other two at 1 and 8 months of age. Apart from multiple seizure types, other presenting features included jitteriness; encephalopathy, at first thought to be hypoxic-ischaemic; hepatomegaly, and abdominal distension with bilious vomiting. Later problems included break-through fits with fever; transient visual agnosia; squint; severe articulatory apraxia; motor delay with later dyspraxia; macrocephaly, and post-haemorrhagic hydrocephalus. Magnetic resonance imaging showed variable structural abnormalities in all the early onset cases. Psychometric assessment revealed a stereotyped pattern of intelligence scale subtest scores, with a specific impairment of expressive verbal ability. In a prospective open study over one year, an increased dose of pyridoxine was associated with an improvement in IQ, particularly in performance subtests. Pyridoxine dependency is more common than has been thought. It has a wider range of clinical features than the classical neonatal seizures and causes specific impairments of higher function, some of which may be reversible. The dosage of pyridoxine should be optimal for IQ as well as seizure control.
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PMID:Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. 891 81

In this work we presented our own experience with recognized and treated toxoplasmosis among children. Treated cases were observed over several years afterwards. We analyzed the frequency and character of clinical changes, evaluated the validity of serological screening and the effectiveness of treatment. The largest age group treated were children 13 months to 5 years old. 13 children had the congenital and 12 the acquired form. The most cases occurred in the nodal, ocular and ocular-cranial forms. Thus, the most common symptoms were enlarged lymphatic nodes, strabismus, febrile seizures, intracranial calcifications. In the acquired forms of the illness a distinct correlation between treatment and the decrease antibody levels, the clinical pictures showed stagnation. The fall in antibody levels occurred earlier with intermediate immunofluorescence than with ELISA method. Among 20 children associated 30-day treatment was implemented (Daraprim, Rovamycine, Biseptol), among 4 with Fansidar and Rovamycine for 2-3 weeks. Few complications occurred at the end of or after treatment and did not require treatment/intervention. Usually it was leukopenia and thrombocytopenia. Long time observation allows to state that both therapeutic models prevent renewal of illness and can be recommended for further use.
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PMID:[Clinical view of toxoplasmosis in children--personal observations]. 937 83

The objective of this article was to evaluate the etiologies, findings, and treatment of ocular neuromyotonia (ONM) in three case reports. The etiologies of ONM were determined by the histories, neuroradiologic tests, or biopsies. Clinical observations, videotaping, and electronic eye movement recordings documented the eye movement abnormalities. Intermittent diplopia developed several years after myelography with thorium dioxide (Thorotrast), radiation treatment for a pituitary tumor, and radiotherapy for medulloblastoma of the posterior fossa. All of the patients had intermittent, variable tropias that occurred spontaneously or were induced by eccentric gaze. One patient had a partial third nerve palsy, and another had a unilateral internuclear ophthalmoplegia (INO). ONM involved the paretic third nerve, extraocular muscles, and ipsilateral lateral rectus muscle in one patient, the paretic medial rectus muscle (INO) in one patient, a lateral rectus muscle (INO) in one patient, and a lateral rectus muscle in the last patient. Eye movement recordings were consistent with spasms of the involved muscles. Carbamazepine (Tegretol) abolished the ONM in two patients. The other patient had been taking carbamazepine for seizures and developed ONM when the dose was decreased. Increasing the dose abolished the ONM. ONM is an unusual cause of intermittent diplopia and strabismus, but its distinctive history and signs identify it easily. Damage to the peripheral cranial nerves might produce segmental demyelination, axonal hyperexcitability, and a self-perpetuating, reverberating circuit that causes spasms of the extraocular muscles.
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PMID:Ocular neuromyotonia: three case reports with eye movement recordings. 953 30

The carbohydrate-deficient glycoprotein syndromes are a group of recently described autosomal recessive, metabolic defects affecting multiple systems. The disorder is caused by inefficient posttranslational glycosylation of glycoproteins. Patients with the syndrome present early in life with psychomotor retardation, seizures, hypotonia, and stroke-like episodes. They also have dysmorphic features including almond-shaped eyes, constant squint, inverted nipples, and buttock fat pads. One of the features of the syndrome is coagulopathy, and we report here a patient who presented with a prolonged activated partial thromboplastin time, and was subsequently diagnosed with the carbohydrate-deficient glycoprotein syndrome. We also summarize the results of five previously published studies of the coagulation system in these patients. Most of the reported patients are deficient in factor XI, protein C, antithrombin III, and protein S. Other coagulation proteins are less frequently affected. Both bleeding and thrombosis have been observed, yet the cause of the stroke-like episodes remains speculative. The carbohydrate-deficient glycoprotein syndrome is an increasingly recognized multisystem disorder affecting hemostasis, and thus will involve clinical hematologists as part of a multidisciplinary team caring for patients with the syndrome.
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PMID:Coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome: case report and review of the literature. 988 8

Fibroblast growth factor receptor (FGFR) mutations have been found in craniosynostosis syndromes with and without limb and/or dermatologic anomalies. Ocular manifestations of FGFR2 syndromes are reported to include shallow orbits, proptosis, strabismus, and hypertelorism, but no ocular anterior chamber, structural abnormalities have been reported until now. We evaluated three unrelated patients with severe Crouzon or Pfeiffer syndrome. Two of them had ocular findings consistent with Peters anomaly, and the third patient had opaque corneae, thickened irides and ciliary bodies, and shallow anterior chambers with occluded angles. Craniosynostosis with and without cloverleaf skull deformity, large anterior fontanelle, hydrocephalus, proptosis, depressed nasal bridge, choanal stenosis/ atresia, midface hypoplasia, and elbow contractures were also present. These patients had airway compromise, seizures, and two died by age 15 months. All three cases were found to have the same FGFR2 Ser351Cys (1231C to G) mutation predicted to form an aberrant disulfide bond(s) and affect ligand binding. Seven patients with isolated Peters anomaly, two patients with Peters plus syndrome, and three cases with typical Antley-Bixler syndrome were screened for this mutation, but none was found. These phenotype/genotype data demonstrate that FGFR2 is involved in the development of the anterior chamber of the eye and that the Ser351Cys mutation is associated with a severe phenotype and clinical course.
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PMID:Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 1040 70

We report a 2-year-old male with aplasia cutis congenita of the scalp, epibulbar dermoids, strabismus and macrocephaly. In our opinion, he is affected by the Oculo-Ectodermal syndrome first described by Toriello et al. (1993). Am J Med Genet 45:764-766]. This is the sixth report of patients with this rare entity. Our case further expands the clinical spectrum of the syndrome to include mental retardation, seizures and microscopic hair changes.
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PMID:New clinical findings in oculo-ectodermal syndrome. 1064 96

Carbohydrate-deficient glycoprotein syndrome (CDGS) is a newly delineated group of inherited multisystemic disorders associated with abnormal glycosylation of a number of serum glycoproteins. Several types have been described on the basis of clinical presentation and biochemical changes of the glycosylation of serum transferrin and attributed to different enzymatic defects; their clinical presentations are fully different and a clinical heterogeneity is observed within a same type of CDGS. Patients with CDGS type la usually present with neurologic (hypotonia, strabismus and cerebellar hypoplasia) and cutaneous (inverted nipples, abnormal distribution of adipose tissue) abnormalities, together with multivisceral involvement (digestive, hepatic, cardiac, renal). However, neurologic and cutaneous symptoms may be absent, so that CDGS must be looked for in case of unexplained organ failure such as isolated liver insufficiency, cardiomyopathy, pericarditis, tubulopathy, nephrotic syndrome, vascular accident or retinitis pigmentosa. Patients with CDGS type Ib present with liver disease, enteropathy and hypoglycemia without neurologic involvement. These patients are successfully treated with oral mannose administration emphasizing the importance of making the diagnosis. Patients with CDGS type Ic present with mild psychomotor retardation and seizures. Patients with CDGS type II have psychomotor retardation association with severe gastrointestinal disorder, dysmorphic features and abnormal electroretinogram. Other types (III, IV) are less clearly defined and the clinical presentation includes convulsive encephalopathy. Biological abnormalities such as mild hepatic cytolysis, hematologic and hormonal abnormalities are consistently observed in CDGS type I, as well as renal hyperechogeneity, leading one to look for this syndrome when they are associated. Until now, only four enzymatic deficiencies have been identified (types Ia, Ib, Ic, II).
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PMID:[Carbohydrate-deficient blood glycoprotein syndrome]. 1070 Oct 64


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