TBCK GENE RELATED ENCEPHALOPATHY : A UNKNOWN ORPHAN DISEASE

Abstract

Background : TBCK-related encephalopathy is a very rare condition recently diagnosed effecting the paediatric age group. It was rst discovered in 2015 by Saudi scientists who identied the role of TBCK gene mutation in a family of 13 members with ID. Mutations in this gene lends the children to have developmental delays, ID ranging from moderate to severe degree, hypotonia (low muscle tone) and seizures. Until this date only 35 cases have been reported worldwide. Our case describes a 3 year old female Case report: child hailing from Tadepalligudem, Andhra Pradesh, India. A rst order child of 3rd degree consanguineous marriage presented to us with complaints of repeated generalized tonic clonic seizures and showing physical traits of coarse face , over arching of eyebrows, anteverted nares ,cupid bow, bitemporal shrinking , atypical rash on the thigh region, at foot, hypotonia ,overall psychomotor delay and severe intellectual disability which resembled like storage disorder disease or chromosomal disorder . All the symptoms were taken into count and blood investigations were done which were inconclusive of any storage disorder that was known , upon more researching we read about TBCK disorder which was one of the causes of intellectual disorders, been recently diagnosed we gathered more information and an MRI, EEG and Genetic studies like Whole Exome Sequencing (on child and parents) were done . This came back conrmed case of TBCK gene defect, also known as TBCK gene syndrome This case is a very rare entity which causes intellect Conclusion: ual disability , more awareness of this might bring more light into the exact pathogenesis of this disease. Currently there is research about treatment options for this disease through increasing leucine which acts through mTOR pathway. Similar to supplementation of phenylalanine for phenylketonuria which improves the disease process decreases the chance of intellectual disability.