Batten disease is a group of rare inherited conditions also known as neuronal ceroid lipofuscinoses, or NCLs, that can lead to seizures, loss of vision, and progressive motor and cognitive decline.
Congenital Batten disease, sometimes referred to as CLN10 disease, is an extremely rare type of Batten disease in which most symptoms develop from birth. Scientist say it is likely that some affected individuals may have seizures before birth, while still in the womb.
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 leads to a complete lack of enzyme activity and the subsequent accumulation of lipofuscin.
In later-onset forms of CLN10 disease, defects in CTSD gene may result in significantly reduced levels of cathepsin D. As such, some proteins are broken down by the enzyme and the accumulation of lipofuscin occurs more slowly.
Inheritance of CLN10 disease
Infants inherit CLN10 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, meaning they each have one copy of the defective gene.
When two carriers of the gene have children, there is a 25% risk of the child having CLN10 disease. There also is a 50% risk that the child may not have the disease, but will be a carrier, meaning he or she could pass it along to any future biological children. The odds of the child not having the disease and not being a carrier are 25%.
Symptoms of congenital Batten disease
Infants born with congenital Batten disease generally have unusually small heads, a condition called microcephaly, accompanied by reduced brain sizes.
Some symptoms, such as seizures, can start inside the mother’s womb. Shortly after birth, other symptoms may develop, including severe breathing difficulties resulting in respiratory failure, abnormally stiff muscles, and prolonged seizures lasting several minutes (status epilepticus).
Those with later-onset CLN10 disease often develop problems with balance and coordination (ataxia), loss of speech, a decline in intellectual functioning, and loss of vision.
Prognosis of congenital Batten disease
There currently are no effective treatment options for congenital Batten disease. Therapy is aimed at easing symptoms and improving quality of life.
Infants with this condition often do not survive beyond hours to weeks after birth. In rare, later-onset forms of the disease, symptoms don’t appear for years, although these individuals will have a shorter lifespan.
Last updated: Oct. 6, 2021
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