Visual diagnosis: 8-day-old hypotonic newborn with sparse hair.

A hypotonic newborn or infant with pale skin and sparse, friable, hypopigmented, or depigmented hair should have his copper and ceruloplasmin plasma levels evaluated because this is the usual clinical presentation of Menkes disease. Menkes disease is an X-linked recessive disease caused by a defect in the ATP7A gene, identified in 95% to 98% of the cases. Identifying the mutation confirms the diagnosis and allows for prenatal counseling and diagnosis in a future pregnancy. When administered within the first few months of life, copper histidinate, given subcutaneously in a dose of 50 to 150 mg/kg per day, appears to be effective not only by increasing life expectancy from 3 to 13 years but also by improving neurologic symptoms and neurodevelopmental outcomes in approximately 30% of the patients.

Endogenous endophthalmitis caused by Pseudomonas aeruginosa in a preterm infant: a case report.

Endophthalmitis is an infection of the vitreous or aqueous humor of the eye. Although it rarely occurs in the neonatal period it has been previously diagnosed in preterm infants.Endogenous endophthalmitis is when eye infection is secondary to septicemia and represent 20% of the cases of endophthalmitis. Pseudomonas aeruginosa is responsible for more than 75% of invasive neonatal eye infections. The course of pseudomonal endophthalmitis is typically fulminant, developing over hours even in early diagnosis. For survivors, the usual result is blindness of the affected eye.We report the case of a preterm infant who developed septicemia and was later diagnosed as having a pseudomonas endophthalmitis.