Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The purpose of this review is to asses the current knowledge of mucopolysaccharidosis (MPS), with reference to the serious complications which may arise in connection with anaesthesia and operation. MPS consists of a heterogeneous group of hereditary diseases which are characterized by an abnormal accumulation of mucopolysaccharides, especially in cartilaginous and bone tissue. Because of their progressive and disabling nature, frequent surgical intervention is common, and is associated with a high degree of per- and postoperative risk. The clinical manifestations of MPS are frequently dwarfism, scaphocephaly, grotesque facial features with snub nose, hypertelorism, macroglossia and dental anomalies. The chest is deformed by pectus carinatum or excavatum, club-formed ribs and kyphosis with gibbus. Furthermore, cardiomegaly, abdomen pendens, hepatosplenomegaly, umbilical hernia, corneal clouding, conductive deafness and subnormal intelligence are common findings. Prior to operation, patients should be thoroughly evaluated through clinical examination and laboratory investigations. In particular, lung function should be optimized by lung physiotherapy and treatment of airway infections. When inducing general anaesthesia, spontaneous respiration is recommended until the patient has been intubated, as airway anomalies, bleeding and salivation may make intubation extremely difficult. Local or regional anaesthesia is often preferable, though age and mental status are relative contraindications. When used in combination with careful sedation, many problems may be overcome. Postoperatively, it is important to treat stagnation of secretions and airway infections with lung physiotherapy positive end-expiratory pressure, and antibiotics. In connection with anesthesia, it is vital to monitor the patient carefully before, during and after anaesthesia.
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PMID:Mucopolysaccharidoses and anaesthetic risks. 310 30

A 22-year-old man presented with bilateral painless cervical lymphadenomegaly, difficulties in nasal breathing and bilateral conductive hearing loss. Rhinoscopy and computer tomography disclosed mucosal polyps in the nasal cavity and a polypoid soft mass almost completely filling the whole nasal cavity and the paranasal sinuses. Thoracic and abdominal computer tomography showed mild hepatosplenomegaly and a solitary round lesion in the right lung. No fever or abnormal laboratory parameters were detected. The biopsy from the nasal polypoid lesions and from the cervical lymph nodes showed extensive proliferation of histologically benign erythrophagocytic histiocytes. The diagnosis of virus (Epstein-Barr virus)-associated hemophagocytic histiocytosis was confirmed by immunohistochemical reactions, by polymerase chain reaction, and by Epstein-Barr-Encodes (Early)-RNA in situ hybridization. This case illustrates an unusual clinical manifestation of virus-associated hemophagocytic histiocytosis presenting as mucosal polyps of the upper respiratory tract.
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PMID:Unusual clinical manifestation of virus-associated hemophagocytic syndrome. 1470 43