Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.

Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a neonate (46, XY) with phenotypic female genitalia who presented with significant salt loss with a novel homozygous variant mutation c.

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.