Introduction:

Neuronal ceroid lipofuscinoses (NCLs; also known collectively as Batten Disease) are a family of autosomal recessive lysosomal storage disorders. Mutations in as many as 13 genes give rise to ∼10 variants of NCL, all with overlapping clinical symptomatology including visual impairment, motor and cognitive dysfunction, seizures, and premature death.

Case Description;

A four year- old boy, referred to our service with seizures and progressive neuromotor retardation. The patients and his family’s history are not sprecific. The patients mental and motor development are normal until 18 months.  After the 18th months the motor retardations begun with walking disorder. Follwing this, the patient had febrile and afebrile seizures. In physical examination the general condition moderate, the response to pain is just groaning. Bilateral light and corneal reflexses are absent. He is microcephalic (<3th percentile), The deep tendon reflexes in the lower extremities are more alert. He couldn’t sit with support and also couldn’t speak too

The laboratory tests including hemogram, serum biochemistry, metabolic screening were all normal. In cranial magnetic resonans imagination (MRI) there was cortical atrophy and volume deficit in the gyruses was shown. In electroencepahologram (EEG) in both temporo-occipital region, asencroniesd sharp wave forms were seen.

After these finding further evaluation done and in genetic analyse; (1p32 ) c.559C>T (p.H187Y) homozygot  mutation shown in the palmitoil protin tiyoesterase 1 (PPT1) gene.

Conclusion:

This mutation has not been shown in another case in literature.