Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report.

Asparagine synthetase deficiency is a rare autosomal recessive neurometabolic disorder caused by mutations in the asparagine synthetase gene. It is characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. A decrease in asparagine in CSF or plasma guides subsequent investigations in some cases, but normal values are described in other cases.

Acute psychosis in an adolescent with undiagnosed homocystinuria.

Unlabelled: Homocystinuria due to cystathionine-β-synthase deficiency (CBS deficiency) usually presents with ectopia lentis, myopia, intellectual disability, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Whereas neurodevelopment impairments have been often described in untreated homocystinuria adult patients, acute psychosis has rarely been reported as a presenting symptom of the disease. Here, we describe a 17-year-old girl affected by CBS deficiency presenting acute onset of visual hallucinations, behavioral perseverance, psychomotor hyperactivity, and affective inappropriateness.