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A newborn with microcephaly (abnormally small head) and difficult-to-treat seizures has been diagnosed with CLN10 disease, or Congenital Batten diseaseafter genetic analysis confirmed a mutation in the CTSD gene, reports a case study.

Researchers have highlighted the importance of offering genetic testing and counseling to families at increased risk of having a child with Latte for prenatal diagnosis.

The case study, “Congenital neuronal ceroid lipofuscinosis: an important cause of unexplained seizures in newbornswas published in the journal Indian pediatrics.

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CLN10 disease is an extremely rare type of Batten disease

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

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

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

CLN10 disease is an extremely rare type of Batten disease caused by mutations in the CTSD embarrassed. This gene provides instructions for producing cathepsin D, an enzyme that works to break down proteins. Mutations in the CTSD leads to a complete lack of enzymatic activity, leading to 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 Batten often do not survive long, hours to weeks, after birth.

Baby boy has epileptic seizures 26 days after birth

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

At birth, the baby weighed 2.2 kg (4.85 lb) and had no symptoms. However, 26 days later he began to develop seizures, drowsiness and difficulty breathing.

He had a family history of consanguinity (descending from the same ancestor) and his 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 changes on his face, microcephaly and enlarged liver and spleen. No evidence of a life-threatening immune response to infection was observed.

He was treated with anti-epileptic drugs but did not respond to treatment.

Examination of the eye revealed a cherry-red patch in the retina – a thin layer of nerve cells lining the back of the eye – which occurs in several conditions called neuronal lipid storage disorders.

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

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The boy underwent an electroencephalogram, a test that measures electrical activity in the brain, which was found to be normal. However, brain MRI showed atrophy (shrinkage) of 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 sent home, but died of seizures 80 days (nearly three months) after birth. Her family was offered genetic counseling for subsequent pregnancies that would help with prenatal diagnosis.

CLN10 disease “should be suspected in neonates and infants with unexplained microcephaly and refractory seizures,” the researchers wrote, especially in those whose brain imaging revealed atrophy of the brain and cerebellum.