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A case report described a rare case of a newborn baby diagnosed with CLN2 disease, or late infantile Batten disease, after a genetic test confirmed a disease-causing mutation in the TPP1 uncomfortable.

The case study, “A case of neonatal neuronal type 2 ceroid lipofuscinosis: a new mutation,Was published in the Journal of College of Physicians and Surgeons of Pakistan.

Neuronal ceroid lipofuscinosis type 2, or CLN2 disease, is a rare neurodegenerative disease caused by mutations TPP1 uncomfortable, which provides instructions for making an enzyme called tripeptidyl peptidase 1 (TPP1). Mutations affecting the function of the enzyme cause cells, especially nerve cells, to accumulate waste products, which triggers the onset of the disease.

The onset of CLN2 disease usually occurs between 2 and 4 years of age, with the first symptoms including seizures and loss of motor, language and cognitive skills.

In this case report, researchers described a rare case of a newborn baby with CLN2 disease.

The boy was admitted to the Neonatal Intensive Care Unit at Izmir Tepecik Training and Research Hospital in Turkey at the age of 26 days with a diagnosis of metabolic disease.

The baby was born by cesarean section with a weight of 2.605 kilograms (5.7 pounds) at 38 weeks gestation. The 39-year-old mother reported reduced movement of the baby during pregnancy. The parents were not inbreeding (blood relationship) and had a healthy daughter.

On examination, the baby weighed 2.330 kilograms (5.1 pounds), 42 centimeters (16.5 inches) in length, and a head circumference of 29 centimeters (11.4 inches), which is less than third percentile. Percentiles are a measurement tool that can show where children stack up against others; the higher the percentile, the taller the child is compared to others of the same sex and age.

Doctors intubated him. He was hypotonic (low muscle tone) and had no neonatal reflexes.

a MRI baby’s brain showed severe shrinkage (atrophy) and suboptimal levels of myelin – the fat-rich substance that insulates nerve fibers – on both sides (hemispheres) of the brain and in the cerebellum (the center of the brain for motor coordination).

Further examination revealed an absence of myopathic discharge (electrical signals that cause muscle contraction) without the involvement of the primary muscle fibers. A muscle biopsy was also found to be normal.

Genetic analysis identified a new disease-causing mutation (c.1145G> A) in both alleles (both versions of a gene) of TPP1. No mutation linked to spinal muscular atrophy (SMA), a genetic disease characterized by muscle weakness and wasting (atrophy), has been found.

“To our knowledge, this mutation is new and yet not reported in the literature,” the researchers wrote.

The baby was diagnosed with CLN2 disease and died before the age of 5 months. “With this case, it should be borne in mind that NCL can rarely start early in newborns,” the researchers wrote.

Both parents and her sister wore the same TPP1 mutation, but in only one of the alleles of the gene, and they were advised to undergo genetic counseling for subsequent pregnancies.

“In the presence of cerebral and cerebellar atrophy, NCL [neuronal ceroid lipofuscinoses] should be considered for early diagnosis and possibly for full curative treatment in the future, ”the researchers concluded.

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