A 3-year-old child developed severe aplastic anaemia following hepatitis A. Since no HLA-compatible donor was available, he was treated with oxymetholone, antithymocytic globulin and methylprednisolone, but no haematologic recovery was observed and he consequently died of pneumonia. Although the association of aplastic anaemia and hepatitis A has already been recognized, this patient represents the first case of aplastic anaemia in which the previous hepatitis A has been well documented.

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The case of a newborn male infant with congenital Langerhans cell histiocytosis (LCH) is presented. At birth, showed cutaneous lesions (papules and vesicles with a haemorrhagic aspect), mucosal and ganglionic involvement. Biopsy of these lesions led to the diagnosis of LCH. At 24 hours of life the patient began with respiratory, hepatic, hematological and renal dysfunction, and died at 72 hours of life, despite corticoid treatment. LHC with vesicles and a rapid and fatal development, has previously only been described in three patients. The differential diagnosis of a disseminated and hemorrhagic vesicular eruption in a newborn infant is extensive and must include LHC.

We report a new case of GM1-gangliosidosis diagnosed in a 5 months old baby who was admitted at birth to our Neonatology Unit because of congenital ascites. The antenatal diagnostic techniques, including ultrasound, maternal antibody screen and fetoscopy with fetal karyotyping, as well as postnatal exhaustive study, failed to determine the underlying cause. Because of progressive neurologic deterioration a lysosomal storage disease was suspected and confirmed by skin biopsy. We wish to add a new case of a lysosomal storage disease to the growing list of nonimmune hydrops fetalis etiologies, and to highlight the importance of enzymatic studies in chorionic villous sample or amniotic cultured cells, once the most common conditions associated with fetal ascitis have been ruled out.

We present the clinical course and EEG evolution of an extreme low birth weight preterm neonate with an uncommon type of glycine encephalopathy. The patient presented with myoclonic jerks, apnea and encephalopathy three months after birth without satisfactory therapeutic response. During the first days of clinical symptoms the patient presented a paroxystic burst-attenuation EEG pattern which progressively evolved into an established typical burstsuppression pattern within a few days. West syndrome occurred four weeks later and the patient died at seven months of extra-uterine life due to a serious respiratory infection with cardio-respiratory arrest. Genetic analysis showed a nonpreviously described mutation affecting a consensus splice site (IVS2-1G > C 3) in the AMT gene encoding the T protein of the glycine cleavage system.