Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

We present the largest single series of cases (n = 5) of penoscrotal transposition (PST) with carefully documented nongenitourinary/anal anomalies, none of which fell into categories of known syndromes, associations, sequences or chromosome disorders. Several unexpected anomalies were observed including coloboma of the iris and retina, hydrocephalus, microcephaly, diaphragmatic hernia, tracheo-esophageal fistula/esophageal atresia and cleft palate. The most frequent anomalies other than PST were renal defects (100%) such as renal agenesis and dysplasia, imperforate anus (60%), central nervous system anomalies (60%) and preaxial upper limb defects (40%). Cardiovascular defects (atrial septal defect, double aortic arch with vascular ring) were noted in only one case. The surviving patients (3/5) had postnatal growth failure and mental retardation. Our 5 PST patients are compared to 16 well-documented cases from the literature. The overall incidence of various extragenital abnormalities were: renal (90%), mental retardation (60%), imperforate anus (33%), central nervous system (CNS) anomalies (29%), vertebral defects (29%), preaxial limb defects (24%) and congenital heart disease (19%). PST is a rare heterogenous anomaly, the detection of which should warrant careful clinical evaluation to rule out other anomalies, especially of the urinary system, gastrointestinal tract, upper limbs, craniofacial region and central nervous system. PST may be a localized field defect involving the genitourinary system; however, the wide variety of more distant defects noted in our series and the literature would raise doubt about that assumption. The high frequency of growth deficiency and mental retardation has also not been given due respect as accompanying problems associated with PST.
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PMID:Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature. 884 15

Maternal phenylketonuria (M-PKU) is a syndrome of embryo- and fetopathy observed in the offsprings of mothers with increased blood level of phenylalanine. These women fall into two groups: phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP). The Phe--level safe for the fetus is 4-6 mg%. Typical for M-PKU syndrome is: microcephalia, mental retardation, intrauterine growth retardation, congenital heart diseases and other anomalies like esophageal atresia, meningocoele, Pierre-Robin syndrome, cataract. The only way to prevent this syndrome is Phe--restricted diet that should be initiated before conception. We reviewed updated literature on the pathogenesis of this syndrome, clinic, possibility of prophylaxis and treatment. We present also 5 pregnancies of 3 patients with PKU, treated in National Research Institute of Mother and Child in Warsaw. On that ground we propose the scheme of prevention of maternal PKU syndrome.
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PMID:[Maternal PKU syndrome as an obstetric problem: literature review and own clinical experience]. 1022 66

Congenital laryngeal atresia (LA) is a life-threatening anomaly in which appropriate perinatal management is essential for survival. The authors report a neonate with LA associated with esophageal atresia (EA) and tracheoesophageal fistula (TEF) who was successfully resuscitated by emergent tracheostomy. Before birth, the patient had a diagnosis of EA based on the findings of polyhydramnios and absent stomach bubble. Immediately after birth, severe respiratory distress, cyanosis, and sternal retraction were evident. Because either endotracheal or esophageal intubation was unsuccessful, an emergent tracheostomy was performed. A direct laryngoscope revealed a subglottic atresia with normal appearance of the vocal cords. Repair of EA with TEF was performed on the third day of life, and the postoperative course was uneventful. In 2 years follow-up, the patient has no mental retardation nor central nervous impairment. Because of the presence of TEF, the antenatal ultrasonogram did not demonstrate the characteristic findings of the congenital high airway obstruction syndrome. This case represents one of the very few reported cases of successful resuscitation of a neonate with an unanticipated LA in which emergent airway management is required immediately after birth.
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PMID:Congenital laryngeal atresia associated with esophageal atresia and tracheoesophageal fistula: a case of long-term survival. 1710 43

The previously undescribed combination of esophageal atresia, hypoplasia of the zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation was diagnosed in two siblings of different sexes, with the brother being more severely affected. The mother presented with zygomatic arch hypoplasia of the right side only. We discuss major differential diagnoses: Goldenhar, Feingold, CHARGE, and Treacher Collins syndromes show a few overlapping clinical features, but these diagnoses are unlikely as the clinical findings are unusual for Goldenhar syndrome and mutational screening of the MYCN, the CHD7, and the TCOF1 genes did not reveal any abnormalities. Autosomal recessive oto-facial syndrome, hypomandibular faciocranial dysostosis, and Ozkan syndromes were clinically excluded. A microdeletion 22q11.2 was excluded by FISH analysis, a microdeletion 2p23-p24 by microsatellite analyses, a subtelomeric chromosomal aberration by MLPA, and a small genomic deletion/duplication by CGH array. As X-inactivation studies did not show skewed X-inactivation in the mother, we consider X-chromosomal recessive inheritance of this condition less likely. We discuss autosomal dominant inheritance with variable expressivity or mosaicism in the mother as the likely genetic mechanism in this new multiple congenital anomaly/mental retardation (MCA/MR) syndrome.
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PMID:Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother? 1749 18

Chromosomal imbalance of the 17q12 region (which includes the HNF1B transcription factor) has recently emerged as a frequent condition. 17q12 deletion was found in patients with various renal abnormalities, diabetes mellitus (MODY type 5), genital tract or liver test abnormalities, while 17q12 duplication was identified in a subset of patients with autism, mental retardation, epilepsy and/or schizophrenia but no renal disorder. We report here two first-degree relatives carrying a 17q12 duplication and harboring various renal abnormalities (bilateral hypoplastic kidneys with vesico-ureteric reflux or multicystic dysplatic kidney with contralateral hyperechogenic kidney). Esophageal atresia (EA) type C was identified at birth in one patient while none had neurological disorder. Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine additional patients with EA and renal abnormalities but failed to identify any pathogenic variant. This is the second report of HNF1B mutation associated with EA. Moreover, we showed herein, that renal malformations may be part of the 17q12 duplication syndrome.
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PMID:A 17q12 chromosomal duplication associated with renal disease and esophageal atresia. 2154 Jan 30

The microduplication 22q11.2 syndrome has a wide range of clinical manifestations. The phenotype ranges from normal to mental retardation and congenital anomalies. Esophageal atresia/tracheoesophageal fistula (EA/TEF) has recently been linked with the Tbx1 gene mutation located on the long arm of chromosome 22(22q11.21). We report a case with 1.4 Mb 22q11.23 duplication detected by array-CGH. The father of this infant has the same interstitial microduplication but with a normal phenotype. The phenotype seen in our case is type C (3B) esophageal atresia, tracheoesophageal fistula, and ventricular septal defect. Our patient underwent primary repair of OA/TEF malformations, which was later complicated by pneumonia and a recurrent TEF.
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PMID:ESOPHAGEAL ATRESIA WITH RECURRENT TRACHEOESOPHAGEAL FISTULAS AND MICRODUPLICATION 22q11.23. 2662 62

Barrett's esophagus (BE) is characterized by the replacement of distal esophageal stratified squamous epithelium by columnar epithelium. It is rare in children and the risk factors may include mental retardation, cerebral palsy, esophageal atresia, etc. Apart from corrosive ingestion, peptic stricture is the other leading cause of esophageal strictures in children. However, BE has not been well characterized in the pediatric population and in children presenting with esophageal strictures. A 16-year-old Indian boy presented with a history of gradually progressive dysphagia to solids (but not liquids) for 12 years along with heartburn and poor weight gain. Physical examination and routine blood investigations were unremarkable. Previously performed barium meal studies were suggestive of stricture in the mid and lower esophagus. Upper gastrointestinal (GI) endoscopy revealed a non-negotiable stricture with circumferential ulceration at 26 cm. The stricture was traversed using an ultrathin scope and the distal mucosa was found to be columnar. Biopsies revealed cardiac mucosa. The patient was treated with proton pump inhibitors (PPI) and four series of segmental dilatations with Savary Gilliard esophageal dilators. Peptic strictures occurring in the mid-upper esophagus should raise concerns about BE or malignancy. Here, we report a case of peptic esophageal stricture in a child without neurodevelopmental or trachea-esophageal abnormalities.
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PMID:Peptic esophageal stricture in an adolescent with Barrett's esophagus. 2692 61