Meneka Kanagaratnam

Abstract Only 14 individuals have been thus far described with GlyT1 encephalopathy due to biallelic variants in the SLC6A9 gene and the phenotypic picture is incomplete. Early mortality has been high, with only two known to survive into infancy. We report a 27-year-old individual who, to our knowledge, is the eldest person described with this ultra-rare disorder and who brings new phenotypic insights alongside potential prognosis for younger individuals.

A 43-year-old woman with a body mass index of 35 kg/m2 presented with blurred vision, headache and a nasal discharge. Examination was normal apart from swollen optic discs (figure 1) and bilaterally enlarged blind spots (figure 2). CT scan of the head and CT venogram showed features of raised intracranial pressure, including bilateral transverse sinus narrowing, an enlarged sella with sella arachnoidocele and prominent optic nerve sheath complexes.

A 43-year-old woman with a body mass index of 35?kg/m2 presented with blurred vision, headache and a nasal discharge. Examination was normal apart from swollen optic discs (figure 1) and bilaterally enlarged blind spots (figure 2). CT scan of the head and CT venogram showed features of raised intracranial pressure, including bilateral transverse sinus narrowing, an enlarged sella with sella arachnoidocele and prominent optic nerve sheath complexes.