Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A retrospective case-note analysis was undertaken of 47 children with a congenital upper motor neurone bulbar palsy (excluding pure speech dyspraxia) to clarify the phenotype of Worster-Drought syndrome (WDS) and to record its associated features and complications. The results revealed that the study children had significant bulbar problems (with 80% still needing a modified diet and a similar number using augmentative communication methods at last review). There were also high rates of predictable bulbar complications (86% had dribbling, 60% had glue ear, gastro-oesophageal reflux in 40%, history of poor nutrition in 40% and aspiration in 40%). Most of the children had additional complex impairments (91% had mild pyramidal tetraplegia, 81% learning difficulties, 60% congenital defects, 41% neuropsychiatric problems and 28% epilepsy). Over half of the children had significant medical problems in the first year, but mean age at diagnosis was 6 years. There were no obvious causes in pregnancy or birth. Six children had a family history of WDS and 32% (12/37) had abnormal neuroimaging including five with bilateral perisylvian polymicrogyria. In our experience, WDS is not uncommon, is relatively easily diagnosed and is crucial not to miss as the management of these children's multiple impairments is complex and requires a careful team approach. WDS falls clearly within the cerebral palsies as a syndrome that includes motor impairment arising from static damage to the brain in early life. The common presence of cognitive, behavioural and seizure impairments strongly supports the cerebral cortical (presumably perisylvian) localization. Its core elements are a suprabulbar paresis, a mild spastic tetraplegia and a significant excess of cognitive and behavioural impairments and epilepsy. The complete overlap in phenotype between WDS and the bilateral perisylvian syndrome leads us to propose that they are the same condition. WDS is startlingly absent from epidemiological studies of the cerebral palsies and rarely diagnosed, presumably because of lack of clinical awareness of the condition and lack of major gross motor impairments.
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PMID:Worster-Drought syndrome, a mild tetraplegic perisylvian cerebral palsy. Review of 47 cases. 1100 32

Clinical experience with the treatment of 3-phosphoglycerate dehydrogenase deficiency, a rare inherited disorder of serine synthesis, is scarce. We report on two sisters with phenotypic heterogeneity and a favourable response to combined serine and glycine supplementation. The elder sibling was found to be normocephalic at birth and showed moderate delay of white matter myelinisation, while her seizures arrested spontaneously even without treatment. In the younger sister with the classical phenotype, feeding difficulties with recurrent gastro-oesophageal reflux prompted us to treat her temporarily with high-dose serine (1400 mg/kg/day). An arrest of head growth then occurred but could be reversed by reducing the serine supply. In both children serine therapy was associated with decreased concentrations of methionine, isoleucine, and ornithine in the cerebrospinal fluid, attributed to competitive inhibition of neutral amino acid transport across the blood-brain barrier. In contrast to reports in the literature, these findings demonstrate that congenital microcephaly, intractable seizures, and dysmyelinisation are not invariably present in patients with 3-phosphoglycerate dehydrogenase deficiency. An adverse effect of high-dose serine therapy on head growth and on the transport of neutral amino acids across the blood-brain barrier should be considered and requires adjustment of treatment.
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PMID:Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: report on two siblings. 1157 99

A 1.5-month-old boy with Sandifer's syndrome is described. After an uneventful delivery, he presented torticollis, seizure-like dystonic neck movements usually associated with feeding, episodic vomiting, inspiratory stridor and hand tremor in the first month of life. Barium esophagogram demonstrated gastroesophageal reflux, for which medical therapy was started. Children with torticollis and dystonic movements should be evaluated for Sandifer's syndrome. Early diagnosis and treatment of gastroesophageal reflux may prevent complications.
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PMID:A case of Sandifer's syndrome with hand tremor. 1176 69

Aicardi syndrome is an X-linked-dominant condition characterized by infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. We reviewed the Aicardi Syndrome Foundation's compilation of family-based, self-reported questionnaires for the year 2000. Information was obtained from 77 females with Aicardi syndrome regarding developmental milestones, seizure frequency, seizure classification, antiepileptic drug use, and medical problems. Patient ages ranged from 1 to 25 years (mean = 7.2 years). All patients were significantly developmentally delayed with milestones ranging from 2 to 36 months. Of the patients, 91% attained milestones no higher than 12 months. Seizures were reported in 92% of patients and occurred daily in 67%. Infantile spasms were the most common seizure type observed in 17%, although a variety of other seizure types were also reported. Multiple antiepileptic drugs were used in these patients with 73% of patients taking two or more antiepileptic drugs. Five patients had a vagal nerve stimulator implanted, and one patient underwent a hemispherectomy. The most common medical problems cited included scoliosis, constipation, gastroesophageal reflux, aspiration pneumonia, and otitis media, but overall health was perceived to be good. Our review demonstrates the spectrum of developmental disabilities, epilepsy severity, and prognosis in a large group of Aicardi patients.
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PMID:Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females. 1250 1

Apparent life-threatening episodes (ALTE) can be the first manifestation of an epileptic seizure in children. However, the diagnosis of ALTE is generally delayed because the interictal EEG often appears normal and the presence of gastroesophageal reflux may mislead the diagnosis of the epileptic manifestation. We report 6 children with epilepsy who presented an ALTE as their first seizure manifestation. The retrospective analysis of our cases demonstrated that ictal EEGs, when available, appeared to be the most helpful test to confirm the diagnosis, although an abnormal-appearing cerebral imaging was also contributive in the patients when only interictal EEGs were available.
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PMID:Apparent life-threatening episodes as the first manifestation of epilepsy. 1263 77

OBJECTIVE: To describe a case of movement disorder associated with cisapride use. METHOD: Case report.RESULTS: This is the case of a male eight months old child who began to use cisapride, 0,2 mg/kg tid to treat gastroesophageal reflux disease. One month after beginning with the drug, he started to present repetitive movements of the hands characterized by opening and closing hands with flexion and extension of the wrists. According to the mother, these movements became more evident as the dose of the medication was increased, and, thereafter, started to happen also on the feet. When the child was six months old, time of the first neurological evaluation, he presented normal neurological development, except for the Parachute reflex, which was absent. After excluding metabolic, toxic and infectious diseases, the drug was withdrew. The child evolution was benign, with gradual disappearance of the movements, and he was completely normal 30 days after.CONCLUSIONS: The authors stress the need suspending the use of cisapride in any case of neurologic symptoms as seizures, somnolence, malaise or involuntary movements in previously normal patients.
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PMID:[Cisapride related movement disorders] 1468 4

Determining clinically whether or not a child with abnormal movements is having seizures is rarely easy. Several non-epileptic causes of apparent seizures are well described, especially gastro-oesophageal reflux. Stool withholding is very common in childhood, and can start very soon after birth. Although it can cause major issues for the child and family, it is rarely considered by health care professionals to be more than a nuisance. A major feature of this is pain related to defaecation. Further, in order to enhance withholding and thus prevent defaecation, a child may adopt positions and facial features that can mimic seizures. This paper presents four children (two males, two females) who presented, between the ages of 3 and 13 months, over a 2-year period to a general paediatric clinic (held in hospitals in Watford and Hemel Hempstead, Hertfordshire, UK). All received multiple investigations before accurate diagnosis. This highlights the fact that stool withholding should be added to the differential diagnosis of seizures in infancy.
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PMID:Stool withholding presenting as a cause of non-epileptic seizures. 1617 16

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. Alpha-thalassaemia is not always present. This syndrome is X-linked recessive and results from mutations in the ATRX gene. This gene encodes the widely expressed ATRX protein. ATRX mutations cause diverse changes in the pattern of DNA methylation at heterochromatic loci but it is not yet known whether this is responsible for the clinical phenotype. The diagnosis can be established by detection of alpha thalassaemia, identification of ATRX gene mutations, ATRX protein studies and X-inactivation studies. Genetic counselling can be offered to families. Management is multidisciplinary: young children must be carefully monitored for gastro-oesophageal reflux as it may cause death. A number of individuals with ATR-X are fit and well in their 30s and 40s.
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PMID:Alpha thalassaemia-mental retardation, X linked. 1672 15

In neurologically impaired patients (NIP), surgical management of gastroesophageal reflux disease (GERD) has become a widespread standard. Several follow-up studies have shown a high incidence of complications and recurrent reflux. As one of the possible causes epilepsy is mentioned repeatedly in the literature. The aim of this study was to determine the effective impact of epilepsy on the postoperative outcome by comparing results of our patients suffering from epilepsy to those without this disorder. From 1984 to 1999, a total of 45 NIP underwent antireflux surgery, including 20 patients suffering from epilepsy (EP) and 25 patients without this disorder (nEP). The existence of epileptic disorders, incidence of epileptic seizures and administration of anticonvulsatory drugs as well as results of diagnostic procedures, postoperative complications and incidence and time of recurrence of pathologic GER were recorded and analysed retrospectively. Preoperatively all patients had pathologic results in 24 h pH-monitoring. Median RI was 15.75 (EP, range 5.2-28.6) and 17.55 (nEP; range 7.2-26.5). 12-months-postoperative 24 h pH-monitoring showed a median RI of 3.8 (EP; range 1.3-25.6) versus a median RI of 3.3 (nEP; range 0.7-26.3). During the long-term follow-up evaluation of 3.9 years, 17 EP suffered from persistent epileptic seizures despite medical treatment. 19 patients (42%) developed recurrent reflux. This included seven EP (35%) and 12 nEP (48%). The necessity of reoperation was higher in nEP (n = 5, 20%) than in EP (n = 1, 5%). This analysis did not show a significant correlation between recurrence of pathologic GER after fundoplication and the incidence of epileptic seizures. We consider our findings to strongly question the widespread opinion considering this correlation. We conclude, that cerebral seizures alone do not alter the operative outcome of antireflux surgery in NIP.
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PMID:Does epilepsy influence the outcome of antireflux procedures in neurologically impaired children? 1673 14

Cerebral palsy (CP) is a group of nonprogressive, motor impairment patterns due to an insult to the developing encephalon. Clinical manifestations vary by the specific motor deformity, anatomically affected region, and location of the brain injury. Spasticity is common, resulting in skeletal muscle weakness and loss of fine motor control. Spasticity in a child undergoing skeletal maturation may precipitate joint contractures and dislocation. Long-term medical care is interventional. The therapeutic goals are to increase the person's independence and improve the caretaker's ability to provide daily care. Early medical intervention to control spasticity and prevent contractures may reduce the need for future orthopedic surgical intervention. Centrally acting, tone-reducing medications may decrease spasticity but cause central nervous system side effects. Orthopedic surgical procedures may be necessary to remedy the chronic effects of increased tone on the muscles and bones of the extremities and spine. Anesthetic care of children and adolescents with CP is increasing. Thorough preoperative assessment facilitates preparation of an intraoperative care plan. Intellectual disability may attend CP and limit the person's ability to participate in preoperative preparation. Perioperative complications include hypothermia, intravascular depletion, muscle spasm, limb contracture, and seizure control. Gastroesophageal reflux and poor respiratory function might complicate anesthetic management.
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PMID:Update for nurse anesthetists--part 6--Perioperative care of patients with cerebral palsy. 1730 86


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