Background There is no standard treatment for unresectable hepatocellular carcinoma. Arterial
embolisation is widely used, but evidence of survival benefits is lacking. Methods We did …

Background Herpes simplex encephalitis can trigger autoimmune encephalitis that leads to
neurological worsening. We aimed to assess the frequency, symptoms, risk factors, and …

The genetic causes of Leigh syndrome are heterogeneous, with a poor correlation between
the phenotype and genotype. Here, we present a patient with an NDUFS4 mutation to …

Objective GNAO1‐related disorders (OMIM #615473 and #617493), caused by variants in
the GNAO1 gene, are characterized by developmental delay or intellectual disability, …

Background Despite therapeutic hypothermia 30-70% of newborns with moderate or severe
hypoxic ischemic encephalopathy will die or survive with significant long-term impairments. …

Background: Asymptomatic pulmonary embolism (PE) is a common finding in patients with
deep venous thrombosis (DVT) of the lower limbs, but the usefulness of seeking for silent PE …

Objective Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2‐CDG])
causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also …

Background Although there are undeniable diagnostic benefits of CT scanning, its increasing
use in paediatric radiology has become a topic of concern regarding patient radioprotection…

Background The clinical characteristics distinguishing treatable thiamine transporter-2
deficiency (ThTR2) due to SLC19A3 genetic defects from the other devastating causes of Leigh …

Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and
may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) …