Batten disease is a group of rare inherited conditions also known as neuronal ceroid lipofuscinoses, or NCLs, that can lead to seizures, the loss of vision, and progressive motor and cognitive decline.
Causes of congenital Batten disease
All types of Batten disease are caused by the accumulation of lipofuscin, a type of fat-based pigment, in parts of the cells called lysosomes, which are responsible for recycling cell waste. Too much lipofuscin is particularly toxic to brain cells, resulting in the neurological symptoms commonly experienced by people with Batten disease.
Cathepsin D is an enzyme located inside lysosomes, which works to break down proteins. In congenital Batten disease, there is a defect in the CTSD gene, which provides instructions for making the cathepsin D enzyme. This results in significantly reduced levels of cathepsin D and the subsequent accumulation of lipofuscin.
Inheritance of congenital Batten disease
Infants inherit congenital Batten disease in an autosomal recessive manner. This means that two copies of the defective gene, one from each parent, are needed for this condition to develop. So, for a child to develop congenital Batten disease, both parents must be carriers or have one copy of the defective gene. When two carriers of the gene have children, there is a 25 percent risk of the child having congenital Batten disease.
Symptoms of congenital Batten disease
Infants born with congenital Batten disease generally have unusually small heads (microcephaly) accompanied by reduced brain sizes. Shortly after birth, symptoms such as severe breathing difficulties resulting in respiratory failure, abnormally stiff muscles, and prolonged seizures lasting several minutes known as status epilepticus may develop.
Diagnosis of congenital Batten disease
Congenital Batten disease can be diagnosed by measuring the levels of cathepsin D enzyme in the blood and by genetic testing. A skin biopsy to look for lipofuscin deposits under a microscope may sometimes be necessary.
Prognosis of congenital Batten disease
There is currently no cure for congenital Batten disease and infants with this condition often do not survive beyond hours or days after birth. In rare, later-onset forms of the disease, symptoms don’t appear for years, although these individuals will have a shorter lifespan.
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