Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.

Two common classes of deletions are described in the literature in individuals with Prader-Willi/Angelman syndrome (PWS/AS): one between breakpoint 1 (BP1) to BP3 and the other between BP2 to BP3 of the PWS/AS critical region on chromosome 15q11-->q13. We present here a novel observation of an approximately 253-kb deletion between BP1 and BP2 on 15q11.2, in a 3(1/2)-year-old boy, who was referred to us with a clinical suspicion of having Angelman syndrome and presenting with mental retardation, neurological disorder, developmental delay and speech impairment. Karyotype and FISH results were found to be normal. The microdeletion between BP1 and BP2 includes four genes - NIPA1, NIPA2, CYFIP1 and TUBGCP5 which was detected by a high-resolution oligonucleotide array-CGH that was further validated by a Multiplex Ligation-dependent Probe Amplification (MLPA) assay. The same deletion was observed in the father who presented with similar but relatively milder clinical features as compared to the affected son. Methylation studies by methylation-specific MLPA (MS-MLPA) of the SNRPN imprinting center (IC) showed a normal imprinting pattern, both in the patient and the father. To our knowledge a microdeletion limited only to the BP1-BP2 region has not yet been reported. The familial genetic alteration together with the striking clinical presentation in this study are interesting, but from our single case study it is difficult to suggest if the deletion is causative of some of the abnormal features or if it is a normal variant. The study however further strengthens the fact that genome-wide analysis by array CGH in individuals with developmental delay and mental retardation is very useful in detecting such hidden interstitial chromosomal rearrangements.

The effect of botulinum toxin type-A injection on spasticity, range of motion and gait patterns in children with spastic diplegic cerebral palsy: an Egyptian study.

Spasticity is defined as increased resistance to passive movement, secondary to hyperreflexia after an upper motor neuron lesion. In children with cerebral palsy (CP), it can interfere with mobility and self-care and can contribute to development of fixed myostatic contractures. This study investigated the efficacy of botulinum toxin type-A, a neuromuscular blocking agent that reduces muscle tone, in a variety of neuromuscular disorders, injections in a prospective, 3-month, controlled study involving 40 children with spastic diplegic CP. The patients were divided into two groups: Group 1 (20 patients) entered a botulinum toxin type-A injection+physiotherapy rehabilitation program; Group 2 (20 patients) were given the physiotherapy rehabilitation program only. Patients were assessed at 4, 8 and 12 weeks post-treatment using the Modified Ashworth Scale (MAS), dynamic gait pattern, ankle range-of-motion measurements and quantification of muscle denervation by nerve conduction techniques. The botulinum toxin type-A group demonstrated statistically significantly decreased spasticity, improved gait function and improved range of motion with evidence of partial denervation of the injected muscle compared to the control group. In conclusion, botulinum toxin type-A injections are a well-tolerated, non-surgical technique that can improve overall response to physiotherapy.

Coccidian parasites as a cause of watery diarrhoea among protein energy malnourished and other immunocompromised Egyptian children.

The role of coccidian parasites in the pathogenesis of watery diarrhea was studied among children with protein energy malnutrition (PEM), immunocompromised due to causes other than PEM and immunocompetent diarrheic of matched age and sex, as controls. The results showed that the prevalence of infection was 15.48%, Cryptosporidium was the most prevalent and showed 14.19% (18.3%, 17.5% and 7.3% in PEM, immunocompromised and immunocompetent cases respectively). Cyclospora oocysts were detected only among 2 cases (1.29%) of PEM group. Isospora oocysts were not detected in any of the studied groups. Modified Ziehl-Neelsen (Z.N.) technique was found to be the most reliable technique for identification of coccidian protozoa infection in stool. Giardia lamblia cysts were found in 10.97% and Entamoeba histolytica in 5.16% of cases. Mixed infection (G. lamblia and E. histolytica) was found in 2.58% of the cases. The duration of diarrhoea was more prolonged in Cryptosporidium and Cyclospora infections among PEM and immunocompromised cases. Cryptosporidium is one of the important casuses of watery diarrhoea in infants and children in PEM and immunocompromised patients. Therefore, it is indicated to use modified Z.N. technique as a routine test for stool examination and immunocompromised patients must avoid contaminated water.