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Children who have the classic form of Farber disease develop symptoms within the first few weeks to months of life. [4] Individuals with moderate or attenuated forms may develop symptoms at any time in childhood. Sometimes it is difficult to diagnose Farber disease because the symptoms can be misdiagnosed as Juvenile Idiopathic Arthritis (JIA).
Multiple sulfatase deficiency (MSD), also known as Austin disease, [1] or mucosulfatidosis, [1] is a very rare autosomal recessive [2] lysosomal storage disease [3] caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases.
25% (1 in 4) children will have the disease; 50% (2 in 4) children will be carriers, but unaffected; 25% (1 in 4) children will be free of MLD – unaffected child that is not a carrier; If one parent is affected and one is free of MLD: 0% (0) children will have the disorder – only one parent is affected, other parent always gives normal gene
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
The term childhood disease refers to disease that is contracted or becomes symptomatic before the age of 18 or 21 years old. Many of these diseases can also be contracted by adults. Some childhood diseases include:
The sign was first described by Warren Tay, founding member of the British Ophthalmological Society, in 1881, with reference to a patient with Tay–Sachs disease. The cherry red spot is seen in central retinal artery occlusion, appearing several hours after the blockage of the retinal artery occurs. [ 4 ]
Doss porphyria/ALA dehydratase deficiency/Plumboporphyria (the disease is known by multiple names) DPT Diphtheria, pertussis, tetanus: DRSP disease Drug-resistant Streptococcus pneumoniae disease DS Down syndrome: DSPS Delayed sleep phase syndrome: DTs Delirium tremens: DVD Developmental verbal dyspraxia: DVT Deep vein thrombosis
Older children or adults generally present with a wide range of signs and symptoms that overlap with other disorders. [5] They may have diarrhoea, stomach pain, vomiting, or poor growth, a sign of malabsorption. They may have signs of bile duct problems, like itchiness, jaundice, pale stool, or dark urine. Their feces may be excessively greasy.