Genetic test diagnoses CLN10 in newborn after unexplained seizures | Unexplained seizures in newborns lead to a rare ribbon diagnosis

A newborn with microcephaly (unusually small head) and difficult-to-treat seizures was diagnosed with CLN10 disease, or congenital batten diseaseafter a genetic analysis confirmed a mutation in the CTSD gene, reports a case study.

The researchers stressed the importance of offering genetic counseling and testing to families most at risk of having a child with Ribbon to allow prenatal diagnosis.

The case study, “Congenital neuronal ceroid lipofuscinosis: an important cause of unexplained seizures in newborns”, was published in the magazine indian pediatrics.

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An illustration of a DNA strand.

CLN10 disease is an extremely rare type of Batten disease

Batten disease, also known as neuronal ceroid lipofuscinosis, refers to a group of rare neurological conditions caused by a genetic defect or mutation.

Such genetic changes eventually cause the accumulation of a substance called lipofuscin in the cells and tissues of the body, and this accumulation becomes toxic primarily to nerve cells and cells of the eye, skin, and other tissues.

Mutations have been identified in 14 genes, called CLN1 through CLN14, and cause different types of diseasesalso known as CLN1 to CLN14 disease.

CLN10 disease is an extremely rare type of Batten disease caused by mutations in the CTSD gene. This gene provides instructions for making cathepsin D, an enzyme that works to break down proteins. mutations in the CTSD gene lead to a complete lack of enzyme activity, resulting in the accumulation of lipofuscin.

Symptoms of CLN10 develop from birth and include severe breathing problems, muscle stiffness, and persistent, long-lasting seizures. Newborns with this type of ribbon often do not survive very long, from hours to weeks, after birth.

Baby suffers seizures 26 days after birth

In the report, a team of researchers from India described the case of a baby, born between 34 and 36 weeks’ gestation, who was diagnosed with CLN10 disease after genetic testing.

At birth, the baby weighed 4.85 pounds (2.2 kg) and showed no symptoms. However, 26 days later, he began to develop seizures, drowsiness, and shortness of breath.

She had a family history of consanguinity (being descended from the same ancestor), and her mother had already had a baby with microcephaly who died 15 days after birth with the same type of symptoms.

Now, this baby had abnormal facial changes, microcephaly, and an enlarged liver and spleen. No signs of life-threatening immune responses to infection were observed.

He was treated with anti-seizure medication but did not respond to treatment.

Examination of the eye revealed a cherry-red spot on the retina, a thin layer of nerve cells that lines the back of the eye, which occurs in several conditions called neuronal lipid storage disorders.

As such, the researchers looked at a disease panel of such disorders, including Gaucher diseaseNiemann-Pick type A and B disease, Krabbe disease, Pompe diseaseHurler’s syndrome and Fabry’s diseasebut all were excluded.

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The boy underwent an electroencephalogram, a test that measures electrical activity in the brain, which turned out to be normal. However, the MRI of the brain showed atrophy (shrinkage) in the cerebellum, the area of ​​the brain that controls coordination and balance.

Genetic testing revealed a mutation in the CTSD gene (c.299C>T), establishing the diagnosis of CLN10 disease.

The baby was discharged home, but died due to seizures 80 days (almost three months) after birth. His family was offered genetic counseling for subsequent pregnancies that would aid in prenatal diagnosis.

CLN10 disease “should be suspected in neonates and infants presenting with unexplained microcephaly and intractable seizures,” the researchers wrote, particularly in those whose brain imaging revealed atrophy in the cerebrum and cerebellum.

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