Identification of a novel MAG gene mutation with 22q11.21 microduplication linked to hereditary spastic paraplegia.

Diagnosing hereditary spastic paraplegia (HSP) in paediatric patients can be challenging, especially when there is no positive family history. Children are often initially misdiagnosed with cerebral palsy due to the gradual progression of the disease and non-specific neuroimaging findings, despite the absence of perinatal insult. This misdiagnosis can prevent timely prenatal diagnosis, limiting the ability to make informed decisions about the pregnancy and to plan early interventions.

Ewing's sarcoma of rib presenting as pleural effusion in a young child.

Ewing's sarcoma of rib is a rare primary malignant bone tumour which poses diagnostic dilemma and has complex treatment. The diagnosis is based on the combination of clinical, imaging, pathology and immunohistochemistry findings. We here present a case of 3.