This case study demonstrates that first-line treatment of a neurotrophic receptor tyrosine
kinase (NTRK) fusion–positive infantile glioblastoma with larotrectinib, an NTRK inhibitor (NTRKi…

Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects
in humans, has been associated with mutations in either mitochondrial DNA genes or …

Background: Joubert syndrome (JS) is an autosomal recessive disorder characterised by
hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, …

Objective To determine the frequency of mitochondrial DNA depletion syndrome (MDS) in
infants with cholestasis and liver failure and to further clarify the clinical, biochemical, …

Objective: Rare co-existance of disease or pathology Background: Subarachnoid hemorrhage
is rarely the first presentation of cerebral venous sinus thrombosis. This case study …

Objective: Rare disease Background: Epidural venous plexus (EVP) engorgement occurs due
to many conditions, so it can be easily misdiagnosed. This becomes problematic when the …

Discussion. Central nervous system tuberculosis (CNS-TB), is the most serious form of
extrapulmonary tuberculosis. It may occur in approximately 10% of immunocompetent subjects. 1 …

Polyostotic sclerosing histiocytosis, also known as Erdheim-Chester disease (ECD), is a rare
form of non-Langerhans histiocytosis. ECD has wide clinical spectrums which mainly affect …

Ewing’s sarcoma is a primary bone cancer that mainly affects the long bones. This malignancy
is particularly common in pediatric patients. Primary cranial involvement accounts for 1% …

Neuromyelitis optica disease is characterized by simultaneous or successive attacks involving
both the optics nerves and spinal cord without any evidence of the disease elsewhere. …