"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".

Background: Transcobalamin II (TCN2) defect is a rare metabolic disorder associated with a range of neurological manifestations, including mild developmental delay, severe intellectual disability, ataxia, and, in some cases, seizures. Cobalamin, an essential nutrient, plays a crucial role in central nervous system myelination.

Clinical Presentation: We present a family with an index patient who exhibited progressive neurodevelopmental regression starting at 9 months of age, accompanied by myoclonic seizures, ataxia, and tremor.

An Unusual Case of Headache in a Child: Idiopathic Intracranial Hypertension with Diagnostic Challenge.

Introduction: In children, idiopathic intracranial hypertension (IIH) is relatively uncommon. It is characterized by an increase in intracranial pressure, in the absence of evidence of underlying brain disease, structural abnormalities, hydrocephalus, or abnormal meningeal improvement. However, very rarely it can occur without papilledema, even though it is the most recognizable clinical sign.