Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neonatal ascites is usually attributed to hematologic, genitourinary, gastrointestinal tract, or congenital heart disease. When these lesions have been excluded, metabolic storage disorders should be considered in the differential diagnosis. We report eight cases of neonatal ascites associated with different types of lysosomal storage disease: infantile sialidosis, Salla disease, GM1 gangliosidosis, and Gaucher disease. In each case there was a history of sibling of perinatal death resulting from the disease. In three cases the diagnosis of ascites was made in utero by ultrasound examination. These diseases are characterized by excretion in the fetal urine of abnormal catabolic products or by measurement of decreased activity of specific lysosomal hydrolases in cultured amniocytes. Thin-layer chromatography of the oligosaccharides in amniotic fluid may be indicated when a diagnosis of persistent fetal ascites has been established.
 ...
PMID:Congenital ascites as a presenting sign of lysosomal storage disease. 642 May 31

Sialidosis is an autosomal recessive disease caused by neuraminidase deficiency, which causes material rich in sialic acid to accumulate in various tissues and organs, leading to morphological and functional changes. Mainly the osteoarticular, cardiorespiratory, and central nervous systems are affected. We report the case of a 14-year-old boy diagnosed with sialidosis type 2 who was proposed for spinal column arthrodesis to treat severe thoracolumbar scoliosis. Physical examination revealed pectus carinatum; facial deformity and macroglossia; hypertelorism and frontal bossing; short neck; atlantoaxial subluxation; severe arthrogryposis of elbows, knees and wrists, coxa valga, and club foot. Relevant medical history included moderately severe aortic valve insufficiency and myoclonic epilepsy. Surgery was performed under balanced anesthesia. Awakening was delayed and the patient was transferred to the intensive care unit under mechanical ventilation. Anesthetic problems that can present in patients with such deformities include difficult airway, complicated management of associated cardiopathy, and difficult weaning from mechanical ventilation.
 ...
PMID:[Anesthetic management of a boy with sialidosis]. 1671 1