Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet.

Mutations in the gene, encoding for the folate alpha receptor (FRa), represent a rare recessive genetic cause of cerebral folate deficiency (CFD), a potentially reversible neurometabolic condition. Patients typically present with developmental delay, seizures, abnormal movements, and delayed myelination. We hereby expand the phenotypic and genotypic spectrum of the disease with the report of the first two Greek siblings that were found compound heterozygous for one known gene mutation (p.

Spontaneous thrombosis of a giant common hepatic artery aneurysm-A case report.

Splachnic aneurysms (hepatic artery aneurysms) are a rare entity ranging from atypical symptoms to devastating rupture.

Coffee bean sign: Its meaning and importance.

The presence of the coffee bean sign is pathognomonic of sigmoid volvulus.

Impending hand compartment syndrome in an infant: is clinical evaluation enough to perform a fasciotomy?

The purpose of this case report is to raise awareness of the early diagnosis and treatment of compartment syndrome in children. Late diagnosis can lead to irreversible outcomes, including myonecrosis, neurologic injury, functional problems, and even amputation. In this age group, clinical judgment may be enough to proceed with fasciotomy.

Sebaceous neoplasms: Just the thin end of the wedge.

The presence of sebaceous neoplasm should alert physicians to thoroughly investigate for underlying malignancies. Awareness on MTS should be raised within physicians, since this may be just the thin end of the wedge.

Myositis ossificans in the infraspinatus muscle: The key to diagnosis.

The zone phenomenon is the most important diagnostic feature in differentiating myositis ossificans from malignancies such as osteosarcomas, which calcify from the center to the periphery and its presence in our late-stage lesion was the key to diagnosis.