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)

The Ruvalcaba syndrome is a rare malformation syndrome characterized by skeletal dysplasia, facial anomalies, and mental retardation. We report on a 22-year-old woman with severe growth and mental retardation and numerous manifestations characteristic of the Ruvalcaba syndrome. In addition, she has several anomalies not previously described in the Ruvalcaba syndrome, including upslanting palpebral fissures, torus palatinus, hiatal hernia with gastroesophageal reflux, recurrent respiratory infections, pectus excavatum, equinovarous deformity, hypotonia, unilateral renal hypoplasia, an accessory ovary, and atretic fallopian tube. Review of published reports of Ruvalcaba syndrome confirms variability of the clinical and radiographic changes. Findings present in at least 50% of reported patients include mental retardation, short stature, pubertal delay, an abnormal nose (usually beaked) with hypoplastic nasal alae, microstomia with narrow maxilla, thin upper lip vermilion, broad hips, small hands, joint limitation, short fingers and toes, and vertebral abnormalities. Because 5 of the reported patients had renal abnormalities, a renal ultrasound or contrast study is indicated in the evaluation of these patients. Additional reports, particular from multiplex families, will be important to better characterize this syndrome.
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PMID:Apparent Ruvalcaba syndrome with genitourinary abnormalities. 267 89

Dysfunction of the upper esophageal sphincter was found in five out of 44 children with gastroesophageal reflux. Three of the five children had mental retardation associated with Silver Russell syndrome, 5p syndrome, or minimal change myopathy. The five patients had swallowing disorders, vomiting, and failure to thrive; four also had pulmonary aspiration. Esophageal manometry showed incomplete upper esophageal sphincter relaxation in two patients, upper esophageal sphincter relaxation incoordinated with pharyngeal contractions in two other patients, and both incomplete and incoordinated upper esophageal sphincter relaxation in the last patient. Intensive and successful treatment of gastroesophageal reflux did not improve swallowing or symptoms of pulmonary aspiration in four children. The fifth patient underwent cricopharyngeal myotomy, with complete resolution of respiratory and swallowing symptoms. It is suggested that a dysfunction of the upper esophageal sphincter, either primary or secondary to neuromuscular disorders, may play a role in the swallowing disorders and respiratory symptoms of pediatric patients.
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PMID:Disorders of upper esophageal sphincter motility in children. 368 74

Gastroesophageal reflux (GER) in the pediatric patient is a frequently recognized problem. Unlike the adult, in whom symptoms relating to esophagitis predominate, the infant and child may present with a variety of respiratory problems, vomiting and/or growth failure. GER is often seen in association with other conditions and must be considered in the evaluation of any pediatric patient with chronic recurring respiratory problems, vomiting or failure to thrive (FTT). Thirty-eight pediatric patients have been surgically managed at West Virginia University from 1977-1983 for GER. The patients fall into several different patterns of presentation and associated problems. Nine premature infants all with bronchopulmonary dysplasia (BPD) have undergone fundoplication for FTT, worsening BPD, and pneumonia. Seven infants and two older children had GER associated with previous esophageal atresia repairs. Esophagitis, vomiting and growth failure were the predominant complaints in this group, though all nine patients had recurring respiratory symptoms as well. Syndromes involving mental retardation and neurologic dysfunction affected another group of five patients, all of whom presented with the complications of long-term esophagitis. The remaining 15 children were otherwise healthy infants who had predominantly respiratory symptoms due to GER. The benefits of fundoplication in these severely affected infants and children far outweigh the relatively few complications. In the carefully selected patient, surgical management of GER is dramatically successful.
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PMID:Patterns of pediatric gastroesophageal reflux. 398 87

Mega-aeroesophagus or massive pneumoesophagus, visible on plain chest radiographs of children, almost invariably is associated with gastroesophageal reflux. The finding is especially common in children with cerebral palsy and/or mental retardation. Occasionally, it is seen on a transient basis in severely ill or moribund patients, but even in these cases, it is usually due to gastroesophageal reflux. Only rarely is mega-aeroesophagus seen with other problems such as distal esophageal obstruction or acute lye burns.
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PMID:Mega-aeroesophagus in children: a sign of gastroesophageal reflux. 729 45

The Costello syndrome is characterized by dwarfism, unique cutaneous lesions, distinct facial gestalt, and mental retardation. We present a Japanese patient with the Costello syndrome. She showed high serum IgM level during the early infantile period. Nissen's fundplication was carried out to treat severe gastroesophageal reflux. Endocrinological investigations revealed a partial deficiency of growth hormone.
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PMID:A Japanese patient with the Costello syndrome. 816 45

Recurrent gastroesophageal reflux (GER) after antireflux procedures (ARP) has been correlated with significant neurological impairment (NI). Other major risk factors for recurrent GER have not been extensively characterized. The authors reviewed their experience with ARPs in children to better characterize the risk factors for recurrent GER and identify successful management strategies for these patients. The charts of 281 consecutively treated children who had an ARP at our institution (1985 to 1992) were reviewed. The neurological status of each child was assessed as normal or impaired (cerebral palsy, seizures, mental retardation, spasticity), and other medical diagnoses such as chronic pulmonary disorders (eg, interstitial disease, cystic fibrosis, bronchopulmonary dysplasia, asthma, etc), and congenital malformations and syndromes were identified. The average follow-up period was 3 years (range, 1 to 7.5 years). Patients with symptoms of recurrent GER were evaluated with an upper gastrointestinal study. Patients with a radiologically intact fundoplication and suspected GER were further evaluated with a 24-hour pH probe. Statistical analyses were performed using the Fisher's Exact Test. Of the 281 patients who underwent ARP, 39 had documented recurrent GER (average, 16 months after surgery). Twenty-five (64%) of these children had chronic pulmonary disease (CPD). Thirty-two percent of all children with CPD had recurrent GER after ARP, versus 7% of those without CPD (P < .0001). For children with NI and CPD there was an increased risk (P < .0001) of failure when compared with the risk in the normal subgroup (children without CPD or NI) who underwent ARP.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Chronic lung disease is the leading risk factor correlating with the failure (wrap disruption) of antireflux procedures in children. 817 86

Two girls with mosaicism for an extra chromosome 9 are reported. Clinical findings included growth and mental retardation, facial dysmorphism, delayed ossification, single flexion crease, gastro-oesophageal reflux in one girl, and ventricular and atrial septal defects in the other patient. These findings are compared to the other previously reported cases of trisomy 9 mosaicism.
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PMID:Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation. 832 Jul 12

With the aim of evaluating the incidence of gastroesophageal reflux (GER) in neurologic pediatric patients with severe motor and/or psychiatric involvement, a retrospective study of 140 infants followed at the Neuropediatric Unit was realized. Forty-five patients (32.1%) had moderate to severe mental retardation (ms RR), 21 of these patients had associated tetraparetic cerebral palsy (T-CP). The rest of the infants presented variable degrees of neurologic involvement: 25 diplegic (D-CP), 27 hemiparetic (H-CP), 22 with slight mental retardation or borderline IQ without motor deficit (SMR), and 21 had attention deficit disorder with hyperactivity (ADD-H). The diagnosis of GER was based on clinical symptomatology and barium ingestion with fluoroscopy and/or esophagoscopy. GER was confirmed in 27 patients: 19 (90.5%) with T-CP, 6 (25%) with ms-MR and 2 (8%) with D-CP. The rest of the infants did not have GER. There was a very significant difference in the frequency of GER in the T-CP group with respect to the other groups (p < 0.001) and a significant difference in the ms-MR patients with respect to the other groups (p < 0.05). The treatment of GER was surgical in ten patients (37%), after failure of medical treatment in 8; exclusively medical treatment in 10 cases (37%) and postural and dietetic treatment in 7 (26%) patients. Good control of GER, resulting in an improvement in the quality of life, occurred in 90% of the patients treated surgically and only in 55% of the patients treated medically.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Gastroesophageal reflux in pediatric neurologic patients]. 846 Aug 41

Medical problems associated with prematurity are frequently complex, and a multidisciplinary approach is often required. Some common problems include the following: (1) anemia, which can be reduced by iron supplementation, (2) cerebral palsy or mental retardation as a result of intraventricular hemorrhage or periventricular leukomalacia, (3) respiratory problems, including bronchopulmonary dysplasia and apnea, (4) visual problems, such as those associated with retinopathy of prematurity, (5) gastroesophageal reflux and (6) surgical problems, including inguinal or umbilical hernia and cryptorchidism. Monitoring of growth and development includes recording the infant's head circumference, weight and length on a growth chart for premature infants. Nutritional status should be assessed at each visit, watching for hyperosmolar problems in infants receiving high-calorie formulas. Consultation with other specialists may be required if abnormalities are identified during follow-up care in the office.
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PMID:Office care of the premature infant: Part II. Common medical and surgical problems. 961 10

We report on a family with severe X-linked mental retardation (XLMR) and progressive, severe central nervous system deterioration. Three of the five affected males died of secondary complications before the age of 10 years and none have survived past the age of 10. These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections. In addition, hypotonia and a mild myopathy were also present. All had a characteristic facies, including downslanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. The two older boys showed cerebral atrophy by CT. No metabolic abnormalities were identified. Three obligate carriers had an IQ less than 80. The causal gene has been localized distal to DXS8103 in Xq28, a region spanning 5cM. No other XLMR disorder with these manifestations have been localized to this region and this appears to be a new disorder.
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PMID:XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. 1039 36


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