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Down syndrome (DS) is caused by trisomy 21, and is one of the most common chromosomal disorders and etiology of congenital mental retardation. Down syndrome increases the risk of developing acute megakaryoblastic anemia (AMKL) and acute lymphoblastic leukemia (ALL). Approximately 10% of newborns with DS present with transient myeloproliferative disorder (TMD), and 10-20% with TMD develop AMKL before 4 years of age. People with DS have a greatly increased risk of early-onset Alzheimer disease (AD). Epileptic seizures occur in 5-10% of DS patients and prevalence increases with age. Children with DS may exhibit various seizures types, including myoclonic, atonic, tonic-clonic, and, rarely, partial seizures. There is no etiologic treatment for DS, but supportive care and treatment of associated conditions such as cardiac and gastrointestinal abnormalities are indicated. Approximately one-third of patients die in infancy and 50% during the first 5 years from cardiac and respiratory infections.
Aicardi-Goutières syndrome (AGS) is an early-onset progressive encephalopathy characterized by calcifications of the basal ganglia, white matter abnormalities, chronic cerebrospinal fluid (CSF) lymphocytosis, and/or a raised level of CSF interferon (INF)-α. We report a female with mitochondrial respiratory chain deficiency fulfilling the criteria of AGS. Disease onset was in the first year of age with seizures and psychomotor regression. To date, at 4 years of age, she presents a severe encephalopathy, increased INF-α in the CSF, and calcifications of basal ganglia on computerized tomography. Cerebral magnetic resonance imaging showed bilateral and symmetric hypersignal of the posterior white matter. A complex I deficiency of the mitochondrial respiratory chain was found in skeletal muscle, which was associated with a complex IV deficiency in cultured skin fibroblasts. The question of whether this oxidative phosphorylation deficiency is primary or secondary in AGS is open to debate. We suggest giving consideration to systematic evaluation of the mitochondrial respiratory chain in skeletal muscle and skin fibroblasts of other AGS patients.
Hemiconvulsions-hemiplegia-epilepsy syndrome (HH/HHE) is a rare epileptic syndrome consisting of a prolonged unilateral convulsion producing a persisting hemiplegia, sometimes followed by epilepsy. We report on a 13-month-old male who presented with febrile left-sided HH syndrome with right hemispheric unilateral cytotoxic oedema followed by hemispheric atrophy on magnetic resonance imaging (MRI). Six months later the child progressively developed refractory focal epilepsy, including right hemiclonic seizures, and nearly continuous left frontal rhythmic spikes, suggesting the presence of a focal cortical dysplasia (FCD). A repeat MRI at 2 years of age showed left frontal FCD. This unusual case of dual pathology – right HH syndrome and left FCD – suggests that some other factor than the malformation determined the prolonged status and brain atrophy. The kinetics of regional cortical maturation could explain this unusual condition.
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