Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A nine-month-old female Jamaican infant presented with a history of severe failure to thrive, recurrent pneumonia and developmental delay. She was found to have hepatosplenomegaly, generalised lymphadenopathy and hypotonia. Investigations revealed polyclonal hypergammaglobulinaemia, cytomegalovirus in her urine, and patchy lung infiltrates on her chest radiographs. Three separate tests were positive for human immunodeficiency virus in both the infant and her mother, suggesting vertical transmission, and confirming AIDS as the cause of the severe failure to thrive.
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PMID:AIDS in an infant causing severe failure to thrive. 366 67

Hunter's syndrome is one of a group of heritable metabolic disorders caused by decreased activity of one or more of the lysosomal enzymes responsible for mucopolysaccharide catabolism, resulting in excessive deposition of mucopolysaccharides in skeletal and soft tissues. Pulmonary conditions, such as airway obstruction, sleep apnea syndrome, atalectasis, recurrent pneumonia and difficult endotracheal intubation are known to be associated with these rare disorders and have been reported. We report the findings at laryngotracheobronchoscopy of a patient with Hunter's syndrome with airway symptoms and, supported by analysis of previously reported cases of airway problems associated with the syndrome, suggest that tracheobronchomalacia with classifiable major airway collapse (MAC) may be the pathological correlate for this clinical picture. The endoscopic technique and characteristic findings of tracheobronchomalacia/MAC are discussed, as well as the natural history and pathophysiology of this condition, which is characterized by weakness of the tracheal wall due to softening of the supporting cartilage and hypotonia of the myoelastic elements with reduction in the tracheal lumen.
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PMID:Tracheobronchomalacia in Hunter's syndrome. 850 49

To examine clinical features of pneumonia in schizophrenics, its course was analysed in 115 patients of a mental hospital (91 men, 24 women, mean age 54.4 +/- 1.2 years). 63.3% patients stayed in hospital for more than a year, 70.4% had schizophrenia for 20 years. 86% pneumonia patients were at the age older than 40 years, 35%--older than 60 years. Unfavourable premorbid factors were dementia, weight loss, anemia, recurrent pneumonia and intestinal infections. Pneumonia was characterized by rare fever, pains in the chest, frequent hypotension, systemic symptoms. 58.2% of patients suffered from pneumonia longer than 4 weeks. Lethality was 23.5%. In patients who had schizophrenia up to 10 years lethal outcomes were absent. In lethal outcome, pneumonia was initially diagnosed as severe, it was accompanied by arterial hypotonia in 91.7% of cases, by leukopenia in 40.5% (below 10(9)/l). Lethal outcome was caused by rapid development of brain edema in vascular failure in more than half of the cases. Pneumonia in mental patients was connected with many factors: the disease as such, psychotropic therapy, conditions in the hospital stay.
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PMID:[Clinical characteristics of pneumonia in schizophrenics]. 1293 15

Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability and recurrent pneumonia. We identified an Xq28 duplication in three families where several male patients had presented with intestinal pseudo-obstruction or bladder distension. The affected boys had similar dysmorphic facial appearances. Subsequently, we ascertained seven further families where the proband presented with similar features. We demonstrated duplications of the Xq28 region in five of these additional families. In addition to MECP2, these duplications encompassed several other genes already known to be associated with diseases including SLC6A8, L1CAM and Filamin A (FLNA). The two remaining families were shown to have intragenic duplications of FLNA only. We discuss which elements of the Xq28 duplication phenotype may be associated with the various genes in the duplication. We propose that duplication of FLNA may contribute to the bowel and bladder phenotype seen in these seven families.
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PMID:Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 1885 60

Array comparative genomic hybridization (aCGH) is now commonly used to identify copy number changes in individuals with developmental delay, intellectual disabilities, autism spectrum disorders, and/or multiple congenital anomalies. We report on an infant with multiple congenital anomalies and a novel 2.6 Mb interstitial deletion within 9q21.32q21.33 detected by aCGH. Her clinical presentation included dysmorphic craniofacial features, cleft palate, atrial septal defect, bicornuate uterus, bilateral hip dislocation, hypotonia, and recurrent pneumonia. Parental aCGH studies were negative for copy loss in this region. To our knowledge, no similar deletions have been reported in available databases or published literature. This deletion encompasses 12 genes, and prediction algorithms as well as experimental data suggest that a subset is likely to be haploinsufficient. Included are a neurotrophin receptor (NKG2D), a gene implicated in cilia function (KIF27), an adaptor protein important for ubiquitin-dependent protein quality control (UBQLN1), a gene important for transcription and signaling (HNRNPK), and a gene involved in maintaining genomic stability (RMI1). Identifying additional patients with similar copy losses and further study of these genes will contribute to a better understanding of the pathophysiology of multiple congenital anomalies.
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PMID:Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies. 2534 48

Osteopetrosis is a rare genetic disease of bone resorption. It includes a variety of hereditary skeletal disorders that have the main radiographic feature of increased bone density and thickness due to differentiation or functional defects in osteoclast. The clinical presentation varies widely based on the type of osteopetrosis and ranges in severity from asymptomatic to a fatal course. Our case is of the infantile malignant osteopetrosis (IMOP) form. It is inherited as an autosomal recessive pattern that generally starts in intrauterine life and manifests at birth or early childhood. It is the most severe form and has an incidence of 1 in 250,000 births. The patient presented at the age of two months with a history of recurrent fever, recurrent pneumonia, developmental delay, and infantile spasms. Upon examination, she was found to have hepatosplenomegaly, axial hypotonia, limb spasticity, and visual impairment. Genetic testing revealed a homozygous variant of OSTM1 gene, which is a known Saudi mutation of autosomal recessive osteopetrosis (ARO). IMOP should be considered as a rare differential of hepatosplenomegaly. Early diagnosis by clinical picture, imaging, and genetic testing is important to direct the appropriate management in order to prevent disease progression before the irreversible neurological sequelae occur. Patients should be managed by a comprehensive approach, and currently, hematopoietic stem cell transplantation (HSCT) provides a better outcome for IMOP patients.
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PMID:Malignant Infantile Osteopetrosis: A Case Report. 3201 34