HHH SYNDROME- A RARE CAUSE FOR CHILDHOOD APHASIA- SINGLE CASE STUDY

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH, MIM #238970) syndrome is a rare genetic disorder of the urea cycle (UC) caused by mutations in the SLC25A15 or ORNT1 gene (MIM*603861), which encodes for the mitochondrial ornithine carrier ORC1. HHH syndrome represents a heterogeneous disease with high clinical variability, ranging from a mild form with learning difficulties and slight neurological involvement, to a more severe form with coma, lethargy, hepatic signs and seizures. This paper presents the rare cause for childhood aphasia – HHH syndrome; its onset of the problem, severity during the course of treatment, various tests that enlighten the cause, learning/literacy difficulties, Pre and Post morbid history of the child, Speech and language diagnosis, cranial nerve examination and intervention in addressing the muscle weakness associated with spontaneous recovery and prognosis. This paper also reflects the awareness of this rare cause for childhood aphasia to improve the quality of life in an affected child.