In rare cases, a type of Batten disease may appear at birth, write researchers in a case report, describing a newborn with severe brain damage.
The research team at the University Hospitals of Geneva said the disease — also called congenital neuronal ceroid lipofuscinosis type 10 (CLN10) — was caused by a mutation in the CTSD gene. This type of Batten has been described in only three other patients.
The team published the case report, “Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder,” in the journal Neuropediatrics.
So far, researchers know about 13 genes that, when mutated, may give rise to various forms of neuronal ceroid lipofuscinoses (NCLs), or Batten. When the disease appears at birth, it tends to be severe, and affected children usually die within weeks.
The team came into contact with the child, a girl born to Somalian parents who were first cousins, immediately after birth. The child had difficulties breathing and moved less than healthy newborns. Four hours after birth, she had convulsions and received treatment to stop the seizures. A brain scan revealed massive brain tissue loss and abnormal brain metabolism.
The team looked for potential causes by scanning for infections, but failed to find a reason for her condition. The girl had very poor survival chances, and after five days, the parents agreed to remove the ventilator that kept the child alive.
Before the child’s death later that day, however, they agreed to perform a genetic examination to trace the cause of the condition.
Brain disease experts had suggested that the girl might have had CLN10, based on the brain scan findings. But since the diagnosis was uncertain, the team analyzed a large set of genes that may give rise to various neurodegenerative conditions in newborns.
The analyses confirmed that she had a deletion of a key region in the CTSD gene. Although the specific mutation has not been described before, researchers said this gene region looks the same in several species, suggesting it has a crucial function.
Further experiments confirmed that cells, grown from a tissue biopsy of the girl, lacked the cathepsin-D enzyme — normally produced by the CTSD gene. These analyses confirmed the girl had CLN10.
Researchers underscored that although the condition is extremely rare, it may be necessary for physicians to consider a CLN10 diagnosis when encountering a newborn with such severe neurodegeneration.