Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.

Background: The ATP7A gene encodes a copper transporter whose mutations cause Menkes disease, occipital horn syndrome (OHS), and, less frequently, ATP7A-related distal hereditary motor neuropathy (dHMN). Here we describe a family with OHS caused by a novel mutation in the ATP7A gene, including a patient with a comorbid dHMN that worsened markedly after being treated with copper histidinate.

Methods: We studied in detail the clinical features of the patients and performed a genomic analysis by using TruSight One Expanded Sequencing Panel.

Neonatal stroke associated with de novo antiphospholipid antibody and homozygous 1298C/C methylenetetrahydrofolate reductase mutation.

Antiphospholipid antibodies are a recognised prothrombotic risk factor associated with acute ischaemic infarction. Most autoimmune diseases are rare in infants, and in the neonatal period, autoimmunity is related to transplacental passage of maternal immunoglobulin G autoantibodies. Distinguishing between de novo and acquired autoimmunity has important therapeutic implications and is crucial for determining the prognosis.

Paediatric acute basilar thrombosis successfully treated with intravenous alteplase.

Acute ischaemic stroke has significant attendant morbidity and is one of the top ten causes of childhood death. It requires prompt investigation and management, however little is known about the safety and efficacy of acute thrombolytic therapies in childhood arterial ischaemic stroke. The authors report a case of a 13-year-old girl with an acute basilar thrombosis, successfully treated with intravenous recombinant tissue plasminogen activator and discuss the management of paediatric arterial ischaemic stroke.

Perinatal atrial flutter: different therapeutic outcomes in two case reports.

Atrial flutter is a rare but potentially lethal arrhythmia, characterized by a rapid regular atrial rate, accompanied by variable degrees of atrioventricular block. Two cases of neonatal atrial flutter are described. The first case was diagnosed in utero at 38 weeks of gestation and converted to sinus rhythm by electric shock on the eighth day of life.

Idiopathic congenital chylothorax treated with octreotide.

Idiopathic congenital chylothorax is defined as an abnormal accumulation of lymphatic fluid within the pleural space and is a relatively rare condition. It is a cause of progressive respiratory distress with nutritional and immunological consequences. Treatment of congenital chylothorax has been conservative management and cases unresponsive usually require surgery.

Congenital medium sternal cleft with partial ectopia cordis repair.

Congenital sternal malformation is a rare anomaly often diagnosed as an asymptomatic condition at birth. The authors report a clinical case of a full-term female neonate with congenital sternal cleft and partial ectopia cordis. Successful surgical repair was accomplished at 6 days of age.