We report on a 3‐year‐old boy with growth retardation, alopecia, pseudoanodontia, and optic atrophy. This is the 18th known and the first Egyptian case of GAPO syndrome. Electron microscopic examination of gingival biopsy showed excessive collagen fibres and endothelial vacuolisation, suggesting involvement of extracellular pathological collagenosis.

Background: Rett syndrome is a progressive neurodevelopment disorder which mainly affects females and is a common cause of mental retardation. Loss of purposeful hand movements, regression of acquired cognitive and motor skills and autistic features are the main criteria associated with this disorder. Sixty to ninety percent of the cases show MECP2 gene mutations, which reside on the X chromosome. MECP2 regulates gene expression in a repressive manner. The aim of this study is to estimate the incidence of MECP2 mutations in 32 female Egyptian patients clinically diagnosed with Rett syndrome, and to correlate their clinical features with MECP2 mutation status. Patients: 32 female Egyptian patients with a mean age of 36.9 months diagnosed clinically to suffer from Rett syndrome are the cohort of this study. Methods: Thorough clinical examination, MRI, EEG and testing for MECP2 gene mutations. Results: Twenty of the 32 (62.5%) patients showed MECP2 mutations an incidence which falls within that reported in the literature. Patients with MECP2 gene mutations presented with more severe clinical abnormalities. Conclusions: Mutation screening for MECP2 is a fast and reliable method to diagnose patients clinically suspected to suffer from Rett syndrome or female patients with atypical Rett syndrome features, mental retardation, developmental delay and other neurological abnormalities who do not fit any specific diagnosis. Also, patients with MECP2 mutation presented with a more severe phenotype. ª 2015 The Authors. Production and hosting by Elsevier B.V. on behalf of The Egyptian Pediatric Association. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/ licenses/by-nc-nd/4.0/).

No abstract

Our present study includes 72 Egyptian children diagnosed to suffer from cerebellar atrophy by brain MRI. All cases were subjected to detailed clinical examination, laboratory tests, neuro-physiological, neuro-radiological, and genetic studies using whole-exome sequencing (WES). Accordingly, we stratified our cases into initial groups. Neuronal ceroid lipofuscinosis (NCL) is the most commonly identified disorder in the cohort. This is followed by metachromatic leukodystrophy, mitochondrial encephalopathy, adreno-leukodystrophy, Aicardi syndrome, and Joubert syndrome. Integration of proper clinical examination, laboratory investigations, neurophysiological, and neuro-radiological investigations are essential to prioritize the optimal further potential genetic assessment.

No abstract