Unusual Presentation of Beckwith-Wiedemann Syndrome in an Extremely Low Birth Weight Infant.

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder that affects fetal growth in which those afflicted present with features pertaining to that, such as macrosomia, macroglossia, hemihypertrophy, and abdominal wall defects. This case reports the presentation of an infant diagnosed with BWS who was born with an extremely low birth weight of 980 grams, in contrast to the typical presentation of overgrowth and macrosomia. As a result, reaching a diagnosis of BWS was delayed until the patient reached eight months of age, when other clinical features of BWS, such as hemihypertrophy, became apparent on follow-up visits.

Lactic Acidosis Due to Thiamine Deficiency in a Preterm Infant Associated with Inadequate Parenteral Nutrition.

BACKGROUND Premature low birth weight infants may require prolonged parenteral feeding, which can be associated with deficiencies of vitamins and micronutrients. Deficiency in thiamine (vitamin B1) can result in metabolic crisis and lactic acidosis. This report describes a premature male infant born at 30 weeks of gestation with thiamine deficiency and lactic acidosis associated with inadequate parenteral nutrition.

Microphthalmia Syndrome 9: Case Report of a Newborn Baby with Pulmonary Hypoplasia, Diaphragmatic Eventration, Microphthalmia, Cardiac Defect and Severe Primary Pulmonary Hypertension.

BACKGROUND The pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect (PDAC) syndrome is a rare medical condition presumably of autosomal recessive way of inheritance with only a few reported cases. Recessive mutations in the STRA6 and both recessive and dominant mutations in RARB gene have been identified as the cause of anophthalmia/microphthalmia and other abnormalities included in the PDAC spectrum. However, those mutations have not been found in all PDAC syndrome cases reviewed from the literature.