Epilepsy and chromosomal abnormalities.

Background: Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders.

Development of the forward parachute reaction and the age of walking in near term infants: a longitudinal observational study.

Background: Near term infants are a main part of preterms. They are at higher risk for mortality and morbidity than term infants and could show a quite different development of tone and reflexes from them. The aim of the present study was to describe longitudinally, in a large sample of healthy near term infants, the development of the forward parachute reaction (FPR) and its correlation with the age of acquisition of independent walking.

Co-infection with Mycoplasma pneumoniae and cytomegalovirus resulting in an acute demyelinating polyneuropathy in a pediatric patient.

A co-infection with Mycoplasma pneumoniae and cytomegalovirus (CMV) resulting in an acute demyelinating polyneuropathy is reported in an immunocompetent girl. Two months following a respiratory infection, the patient showed a symptomatology consisting of weakness in lower limbs, followed by facial asymmetry and arm weakness. Serum M.

Cutaneous vasculitis associated with Mycoplasma pneumoniae infection: case report and literature review.

Mycoplasma pneumoniae is an important bacterial agent that causes pneumonia in pediatric patients; it can also affect other organs or systems. Extrapulmonary manifestations include neurological, cardiac, hematologic, renal, gastrointestinal, osteoarticular, cutaneous, and ocular involvement. This report presents a 7-year-old male affected with cutaneous and retinal vasculitis due to M pneumoniae infection without pulmonary detection.

Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletion.

A 2-year-old girl presented with severe global developmental delay weakness, and an elevated serum creatine kinase level. Her muscle biopsy was consistent with an active dystrophy with absence of dystrophin in about half of the muscle fibers. Fluorescent in situ hybridization analysis showed her karyotype to be 46, X, delX p23.

Epilepsy in fragile X syndrome.

The occurrence of seizures in patients with fragile X syndrome (Fra-X) is reported. Among the 30 patients, six had epilepsy that was particularly severe and two also showed atypical facial dysmorphism that was different from that seen in classical Fra-X. From the study performed in this series of Fra-X patients the authors arrived at the following conclusions.