Interstitial 11q24 deletion: a new case and review of the literature.

We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of our patient with that of recently reported patients studied by aCGH, who showed an overlapping deletion. We also analysed the gene content of the deleted region in order to investigate the possible involvement of specific genes in the clinical phenotype.

Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation.

BACKGROUND: Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder caused by pantothenate kinase (PANK2) gene mutations. Brain magnetic resonance imaging (MRI) typically shows the "eye-of-the-tiger" sign, i.e. bilateral pallidal T2 hypointensity with a small central region of T2-hyperintensity. AIMS: To describe clinical and MRI findings of a boy with early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation. METHODS: Clinical, neuroradiological and molecular investigations have been performed. RESULTS: At first observation (2years and 10months) the boy presented only with developmental delay and toe-walking and isolated T2 hyperintensity within globi pallidi on brain MRI. One year later, small rounded areas of markedly low signal within the globi pallidi on T2∗- weighted images appeared in association with mild dystonia. PANK2 gene homozygous mutation confirmed the diagnosis of PKAN. CONCLUSIONS: In young children, PKAN should be suspected also before clinical and neuroradiological picture is fully indicative, to avoid delayed diagnosis of a genetic disease for which therapeutical options could be potentially useful if administered in paucisymptomatic subjects.

Impairment of the production of delta sleep in anorectic adolescents.

OBJECTIVE: Total sleep time and slow-wave sleep (SWS) are frequently reported to be reduced in anorectics. A preliminary study showed that slow-wave activity (SWA, 0.5-4.5 Hz) is decreased in anorectic adolescents. The present study investigates whether this reduction is the result of the increased sleep fragmentation or is dependent on an intrinsic weakness of SWA-producing mechanisms. DESIGN: Statistical analysis of spectral electroencephalogram data recorded during sleep from a group of anorectics and a control group. SETTING: Polysomnographic data were recorded in single rooms in the hospital for 1 night following an adaptation night. PARTICIPANTS: 20 adolescent anorectic girls (13.9 +/- 2.0 years) and 12 age-matched control subjects. INTERVENTIONS: Refeeding and psychotherapy. MEASUREMENTS AND RESULTS: Anorectics had an increase of wakefulness after sleep onset, a higher number of arousals, and a reduction of SWS and SWA during total sleep time. No relationship between the reduction of SWA and duration of illness was found, while a relationship between SWA decrease and the level of emaciation (body mass index) was present. The analysis limited to the first non-rapid eye movement sleep cycle did not show any difference between the 2 groups in the number of awakenings and arousals. Nevertheless, anorectics showed a reduction of SWS and SWA. CONCLUSIONS: Sleep of anorectic patients seems to be characterized by an impairment of SWA-producing mechanisms independent of the increased sleep fragmentation. This is probably related to the primary pathophysiologic characteristics of the illness but could also reflect secondary functional and anatomic alterations of the brain.