A 2 month old girl presented with afebrile seizures with jerking of upper limbs and left leg, eye deviation to the left and twitching of the lip. She also has paroxysmal eye-head movements, startle myoclonus and vacant episodes. Past medical history significant for reflux secondary to suspected cow’s milk protein intolerance. Family history nil significant and parents non-consanguineous. The clinical exam demonstrated microcephaly and grade 2/6 systolic murmur. She was also noted to have developmental delay with no social smile, head lag and not visually fixing and following. She was initially treated for infection with IV cefotaxime, amoxillicin and acyclovir.

Lumbar puncture performed showed WCC<1, RBC 300, protein 0.71, CSF glucose 1.1, blood glucose 6.1, CSF to blood glucose ratio 0.19 indicating hypoglycorrhachia. CT head showed bilateral frontal lobe hypodensity therefore MRI head was performed which showed no gross structural abnormalities but subtle changes indicating leukoencephalopathy with oedematous frontal lobes but no restricted diffusion. Interictal EEG showed sharp waves over posterior region especially right temporal regions.

Whole genome sequencing confirmed a de novo pathogenic mutation in SLC2A1 gene confirming a diagnosis of GLUT1 deficiency.

For seizures, levetiracetam was started and later clobazam was added. Ketogenic diet (3:1) has been started since GLUT1 deficiency was genetically confirmed as a precision therapy.

This case highlights the rarer MRI changes that can be seen in GLUT1 deficiency with leukoencephalopathy and the importance of rapid genetic testing in securing a diagnosis, as this is linked with improved seizure control and neurodevelopmental outcomes.

Gayathri Varma Narendran
Birmingham Children's Hospital
United Kingdom

Yoshua Collins-Sawaragi
Birmingham Children's Hospital
United Kingdom

Anju Ayinippully
Birmingham Children's Hospital
United Kingdom

Gaurav Popli
Sandwell and West Birmingham Hospitals NHS Trust
United Kingdom

Dilip Kumar Gandhi
Sandwell & West Birmingham Hospitals NHS Trust

Adam Oates
Birmingham Children's Hospital
United Kingdom

Ratna Kumar
Birmingham Children's Hospital
United Kingdom

Evangeline Wassmer
Birmingham Children's Hospital
United Kingdom