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.745-1G>C p. in StAR gene.

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. Due to this, a delay in diagnosis can lead to severe visual impairments. Case presentation: We describe a patient with a chronic headache but no papilledema. His neurological and systemic examinations were otherwise unremarkable. A lumbar puncture revealed a high opening pressure of 450 mmH2O and normal cerebrospinal fluid (CSF) parameters. Magnetic resonance imaging of the brain revealed only tortuous optic nerves, no parenchymal lesions, and no evidence of venous sinus thrombosis. He required acetazolamide treatment. Our patient's symptoms improved significantly in 2 months with medical treatment, weight loss, and exercise, with no development of papilledema. Conclusion: There is a wide range of clinical manifestations of IIH, making it difficult to decide when to begin treatment.

Facial Asymmetry in a Newly Born Baby: Diagnostic Challenge!

Introduction: Facial asymmetry during crying in neonates is an important entity which might be due to an underlying true paralysis of the facial nerve or due to the benign overlooked diagnosis of congenital absence of the depressor angularis oris muscle (DAOM). Case Report: We report a full-term newborn delivered by normal spontaneous vertex delivery with uneventful pregnancy and Apgar score of 9 and 10 at 1 and 5 minutes respectively. His parents are first-degree cousins with 4 living normal siblings. His birth weight was appropriate for his gestational age. His initial neonatal assessment was normal apart from facial asymmetry during crying in the form of deviation of the angle of the mouth to the left with an otherwise normal facial appearance. The facial asymmetry disappears at rest (without crying). This condition usually poses a diagnostic dilemma. Developmental and traumatic facial paralysis and being part of some syndromes like Mobius and CHARGE syndromes are among the most important differential diagnosis but the disappearance of the facial asymmetry at rest is diagnostic of absent DAOM which is a relatively common but missed diagnosis. Conclusions: Pediatricians should be aware about the diagnosis of DAOM in neonates with asymmetric crying face if the face was completely normal at rest with deviation of the angle of the mouth on crying which disappears on rest.