Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit.

Congenital ichthyoses are a rare group of genetic disorders caused by defects in the two outermost skin layers, resulting in an abnormal barrier function. We report the case of a male preterm neonate presenting at delivery with thickened and scaling skin, ectropium and eclabium. Supportive care aiming at improving skin condition and handling possible complications was provided. Following gradual clinical improvement, he was discharged after 27 days. Molecular testing identified mutations in a gene encoding lipoxygenase (ALOX12B), associated with autosomal recessive congenital ichthyosis. This case highlights an uncommon disease that can determine significant morbidity and mortality in the first few weeks of life. Management of this complex disease benefits from a multidisciplinary approach. Molecular studies allow a more accurate diagnosis and enable genetic counselling.

Severe congenital thrombocytopaenia--first clinical manifestation of Noonan syndrome.

This report focuses on a male infant, the first born of non-consanguineous parents diagnosed with polyhydramnios at 26 weeks of gestation. The newborn was admitted during the neonatal period with bleeding diathesis associated with a low platelet count at birth (5×10(9)/l).The authors registered a persistent low platelet count (9000-129 000/l) during the infants 1st year of life. Physical examination revealed a petechial rash, a dysmorphic face and bilateral cryptorchidism, in the absence of organomegaly. Additionally, cardiologic evaluation revealed an aortic valve dysplasia and an atrial septal defect, while bone marrow biopsy and aspiration were found normal. Throughout the investigation, the authors excluded congenital infection, alloimmune and familiar thrombocytopaenia, Fanconi anaemia and thrombocytopaenia absent radius syndrome. The cytogenetic analysis revealed a mutation in the PTPN11 gene associated with Noonan syndrome. Here the author highlights that severe neonatal thrombocytopaenia is a manifestation that should be considered in the diagnosis and clinical management of Noonan's syndrome.

Neonatal hyperglycaemia: a challenging diagnosis.

Neonatal diabetes mellitus (NDM) is a very rare disorder occurring between 1:400 000 and 1:500 000 live births and, until recently, little was known about this disease. The authors report a case of transient NDM in a 2-day-old female infant admitted in an intensive care unit with a blood glucose level greater than 400 mg/dl, glycosuria, ketonuria and with no evidence of autoimmunity. Treatment with insulin was necessary until the 51st day of life and many difficulties were found in the management of metabolic control because of the need for tiny quantities of insulin. Hyperglycaemia is sometimes routinely treated with insulin by neonatologists but after excluding the common causes of hyperglycaemia, NDM should be considered as a diagnostic possibility with clinical, genetic and therapeutic implications.