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)

Otorhinolaryngological manifestations of 13 patients with von Recklinghausen's disease appearing at Lagos University Teaching Hospital over a five-year period have been studied. Among patients with ENT manifestations of the disease, the most common general features exhibited were cutaneous neurofibromas (100 per cent), headache (69.23 per cent) and pruritus (46.15 per cent). But the head and neck findings included external meatal canal stenosis (30.77 per cent), conductive deafness (30.77 per cent), nasal discharge (30.77 per cent), cranial nerve involvement (30.77 per cent) and disfigurement of the soft tissues of the face (30.77 per cent). Involvement of pinna (23.31 per cent), rhinolalia aperta (15.38 per cent), mental retardation (15.38 per cent) and pharyngeal swelling (7.69 per cent) also featured. Clinically detectable bilateral acoustic neurofibromas in adults or astrocytomas in children were not found in this series. Involvement of the frontoparietal bone (7.65 per cent) presented with skull bossing which had to be differentiated from that due to sickle cell disease in the African. There was also a singular case of phrenic nerve involvement. However, malignancy occurred in one (7.69 per cent) of these patients. Thus, it is important always to follow-up these patients closely so as to detect malignant transformation in time.
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PMID:Otorhinolaryngological manifestations of von Recklinghausen's disease in Nigerians. 308 May 40

During the last 15 years, 34 children were treated for a brain abscess. 13 (38%) had cyanotic heart disease; 12 (35%) had an ENT infection. The standardized treatment protocol included puncture of the abscess and administration of antibiotic and antiedematous drugs. Postoperative permanent epidural monitoring of intracranial pressure and, in the last 5 years, repeated CT scans indicated if retapping the abscess or reinforcing the antiedematous treatment was necessary. In 7 out of these 34 cases the abscess had to be excised. Postoperative mortality rate was 6%. Overall mortality rate was 12%. Neurological sequelae were slight. Epilepsy frequency was 10%. Mental retardation (18%) was found only in cyanotic congenital heart disease to which it is related. Repeated CT scans demonstrated the progressive disappearance of the capsule within a few months. This study shows an improvement in the results when brain abscesses in children are punctured rather than excised.
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PMID:Brain abscess in childhood. A study of 34 cases treated by puncture and antibiotics. 688 27

The CHARGE association was described as a cluster of multiple congenital defects by Pagon et al in 1981. The underlining cause of this association is not yet clear. These defects include coloboma of the eye tissues (C), heart disease (H), atresia choanae (A), retarded growth and development and/or CNS anomalies (R), genital anomalies (G), ear anomalies and/or hearing loss (E). Here we report a case of CHARGE association in a 15-year-old female patient. She presented with unilateral ptosis and coloboma of the iris, choroid and retina, patent ductus arteriosus, growth and mental retardation, unilateral ear deformity and a hearing loss. A total of 124 cases have been reported up to now in the literature. We also discuss the frequency of the respective clinical symptoms and signs, and the leading causes of misdiagnosis. We emphasize the importance of ophthalmology and ENT consultations whenever a patient is noted to have multiple congenital anomalies, especially when a cardiac defect is present. Early diagnosis and treatment are essential for this rare association.
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PMID:[CHARGE association: report of a case with literature review]. 790 67

In the UK, some 2.3 million people suffer cerumen ('ear wax') problems serious enough to warrant management, with approximately 4 million ears syringed annually. Impacted cerumen is a major cause of primary care consultation, and a common comorbidity in ENT patients, the elderly, infirm and people with mental retardation. Despite this, the physiology, clinical significance and management implications of excessive and impacted cerumen remain poorly characterized. There are no well-designed, large, placebo-controlled, double-blind studies comparing treatments, and accordingly, the evidence surrounding the management of impacted cerumen is inconsistent, allowing few conclusions. The causes and management of impacted cerumen require further investigation. Physicians are supposed to follow the edicts and principles of evidence-based medicine and clinical governance. Currently, in patients with impacted cerumen, the lack of evidence makes this impossible.
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PMID:Impacted cerumen: composition, production, epidemiology and management. 1525 5

Autism is a behavioural syndrome, present from early life and defined by deficient social interaction, language and communication, and play. Variations in symptomatology and in prognosis among characteristic persons display a variety of other signs such as attention deficits, mental retardation and seizures that are not specific to autism and that denote dysfunction in other brain systems. Its aetiology is unknown in the vast majority of cases. There is a small minority of persons in whom autism has a known aetiology, such as fragile X chromosome abnormality, congenital rubella, tuberous sclerosis and a variety of structural abnormalities and metabolic diseases of the brain. A causal treatment is so far not possible, and there remains a regrettable lack of evaluated treatment standards. Prognosis depends on many factors, most notably the limiting factor provided by the severity of the underlying brain dysfunction and its consequences for communication, cognition and other behaviour. ENT specialists are confronted with children, adolescents and even adults in whom autistic disease has already been diagnosed in the course of investigations/treatment. If the suspicion of hearing impairment as the cause of problems in daily life is not confirmed in a patient not hitherto known to have autism ENT specialists should also consider autism in the differential diagnosis. In this report the diagnostic and therapeutic strategies currently applied for autism and its importance for ENT specialists are presented.
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PMID:[Autism spectrum disorders. Current knowledge and importance for ENT specialists]. 1821 5

Creatine and phosphocreatine provide an intracellular, high-energy phosphate buffering system, essential to maintain ATP levels in tissues with high energy demands. A specific plasma membrane creatine transporter (CRT) is required for the cellular uptake of creatine. This transporter is related to the gamma-aminobutyric acid (GAT) and norepinephrine (NET) transporters and is part of a large gene family of Na(+) - and Cl(-) -dependent neurotransmitter transporters, now known as solute carrier family 6 (SLC6). CRT is essential for normal brain function as mutations in the CRT gene (SLC6A8) result in X-linked mental retardation, associated with the almost complete lack of creatine in the brain, severe speech and language delay, epilepsy, and autistic behaviour. Insight into the structure and function of the CRT has come from studies of creatine transport by tissues and cells, in vitro studies of CRT mutations, identification of mutations associated with CRT deficiency, and from the recent high resolution structure of a prokaryotic homologue of the SLC6 transporters. CRT antibodies have been developed enabling the localization of creatine uptake sites in the brain, retina, muscle and other tissues. These tools in conjunction with the use of appropriate cell models should allow further progress in our knowledge on the regulation and cellular trafficking of the CRT. Development of suitable mouse models may allow improved understanding of the importance of the CRT for normal brain function and how the transporter is regulated in vivo.
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PMID:Functional insights into the creatine transporter. 1865 74

Kabuki make-up syndrome (KMS) is defined as a rare syndrome with mental retardation, growth deficiency and multiple anomalies of unknown cause. Cases have a characteristic facial appearance of broad and low auricles, wide forehead, broad and flattened nose root. In this article, 4-year, 10-month-old boy with speech delay reported due to characteristics of the facial appearance is considered as KMS, a rare syndrome. Otological, audiological and developmental evaluation of the patient consisted of six parameters. (1) ENT examination: normal. (2) Audiological findings were at normal hearing levels. (3) General development (according to the Denver II test), was normal. (4) Language and speech development: receptive language development was 2 years more than the chronological age. However in expressive language development, there was 5-month delay which was likely to complete by training in a short time. (5) The development of speech sounds and articulation: the delay is observed in CVC words. Speech sounds of /l/, /t/, /r/ and /g/ were evaluated as "distorted expression". He used /v/ instead of /l/; /y/ instead of /r/; /d/ instead of /g/. (6) OBSERVATIONS: diffident, deficit in self-confidence, and difficulty in communicating have been observed.Unlike the cases in literature, mental retardation, growth deficiency and learning difficulties were not found in our case with KMS. Normal findings were obtained in five parameters. Only the /l/, /r/ and /g/ speech sounds were expressed as distorted. For our case, we planned to follow him in the future to see whether developmental and central auditory processing disorders will occur or not.
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PMID:Evaluation for language and speech development in Kabuki make-up syndrome: a case report. 1985 11

Mental retardation (MR) has a prevalence of about 2%, and developmental speech disorders with unknown cause about 7%. Very often, developmental delay represents an early warning sign of later developmental problems, such as mental retardation and other developmental disorders (DD). Prognosis depends on many factors, most notably the limiting factor provided by the severity of the underlying brain dysfunction and its consequences for communication, cognition and other behaviour. Chromosomal aberrations are the major cause of MR and also play a role in mild forms of DD and speech acquisition delay. ENT specialists are confronted with children with DD or language acquisition disorders. If the suspicion of hearing impairment as the cause of problems in daily life is not confirmed in a patient, ENT specialists should also consider genetic causes in the differential diagnosis.
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PMID:[Genetic causes in mild speech acquisition delay with/without mild developmental delay: significance for ENT physicians]. 2033 73

Laurence-Moon-Biedl-Bardet Syndrome is a rare hereditary autosomal recessive disease. It is clinically characterised by a pentad of congenital defects e.g. poly or syndactyly, mental retardation, obesity, hypogenitalism and retinitis pigmentosa. Five cases of the syndrome with additional ENT features are presented. The salient features of the condition are discussed in the light of available literatures.
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PMID:Ear, nose and throat manifestations in Laurence-Moon-Biedl-Bardet Syndrome. 2311 60