Explanipedia

Creation and Validation of the Major Pediatric Mitochondrial Cytopathies Minimum Data Set: Consensus from a Moroccan–Tunisian Delphi Study Open

Sara El Guessabi, Jihane Belayachi, Ilhem Turki, Ichraf Kraoua, Saïd Galaï , et al. · 2025

Background: Pediatric mitochondrial cytopathies (MCs) are rare, multisystemic, and heterogeneous disorders that require harmonized collection of clinical, biochemical, and genetic data to better understand their natural history, optimize p…

Type 2A Pontocerebellar Hypoplasia, A Rare Cause of Psychomotor Delay: A Case Report Open

Moutabarrik, Hind Lachraf, Saliha Moussaoui, H. Laji, Yamna Kriouile · 2025

Aims: This case report aims to describe a child with type 2A pontocerebellar hypoplasia (PCH2), whose clinical features were suggestive but non-specific, emphasizing the diagnostic value of neuroimaging and genetic testing. Presentation of…

Diagnostic accuracy of the lactate stress test for detecting mitochondrial disorders: Systematic review and meta-analysis Open

Sara El Guessabi, Rédouane Abouqal, Azeddine Ibrahimi, Ghizlane Zouiri, Fatima Sfifou , et al. · 2024

Gaucher disease: About an observation Open

F. ETIENE IRINEU, Ghizlane Zouiri, Hajar Rhouda, Hind Lachraf, Saliha Moussaoui , et al. · 2024

Introduction: Gaucher disease is an inherited lysosomal storage disorder caused by defective discomfort. The consequence is the deficiency or complete absence of an important enzyme, β-glucocerebrosidase, which controls specific metabolic …

Pelizaeus disease Merzbacher like: About an observation Open

F. ETIENE IRINEU, H. LACHRAF, Hajar Rhouda, Ghizlane Zouiri, Sanae El. Moussaoui , et al. · 2024

Pelizaeus-Merzbacher disease (PM) is an X-linked leukodystrophy causing developmental delay, nystagmus, hypotonia, spasticity and variable intellectual deficit. Three forms are described according to age of onset and severity: neonatal for…

Pediatrics 2 experience, Neuropediatrics and neurometabolic diseases unit on phenylcetonuria: About 36 patients Open

F. ETIENE IRINEU, Hind Lachraf, Hajar Rhouda, Ghizlane Zouiri, Saliha Moussaoui , et al. · 2024

Phenylketonuria (PKU) is a hereditary metabolic disease of phenylalanine metabolism, linked to a deficiency of phenylalanine hydroxylase or its cofactor, an enzyme allowing the transformation of phenylalanine into tyrosine, resulting in an…

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome Open

Vincenzo Salpietro, Reza Maroofian, Maha S. Zaki, Jamie R Wangen, Andrea Ciolfi , et al. · 2023

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study Open

Filipa Curado, Sabine Rösner, Susanne Zielke, Gina Westphal, Ulrike Grittner , et al. · 2023

Gaucher disease (GD) is a rare autosomal recessive disorder arising from bi-allelic variants in the GBA1 gene, encoding glucocerebrosidase. Deficiency of this enzyme leads to progressive accumulation of the sphingolipid glucosylsphingosine…

Children's Diabetic Ketoacidosis and COVID 19: Two Case Reports Open

Ghita Hachim, Yamna Kriouile, Zineb Imane · 2022

Introduction: The current global pandemic due to SARS-CoV-2 has resulted in a large literature on associated comorbidities, including diabetes. COVID 19 infection in a diabetic child can be complicated by severe ketoacidosis. The aim of th…

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease Open

Elisa Calì, Sheng‐Jia Lin, Clarissa Rocca, Yavuz Şahin, Aisha Al Shamsi , et al. · 2022

Post COVID-19 Multisystemic Inflammatory Syndrome Revealed by Seizures: A Case Report Open

Nadia Mebrouk, Yasmine Lachkar, Aziza Bentalha, Latifa Chat, Yamna Kriouile , et al. · 2022

The Covid-19 infection disrupts various organs, including the liver, kidney, and nervous system. Common neurological symptoms of the Covid-19 infection include delirium, confusion, headache, and loss of sense of smell and taste. In rare ca…

Mutations in<i>TAF8</i>cause a neurodegenerative disorder Open

Keit Men Wong, Wayne M. Jepsen, Stéphanie Efthymiou, Vincenzo Salpietro, Meredith Sanchez‐Castillo , et al. · 2022

TAF8 is part of the transcription factor II D complex, composed of the TATA-binding protein and 13 TATA-binding protein–associated factors (TAFs). Transcription factor II D is the first general transcription factor recruited at promoters t…

Identification of novel mutations by targeted next-generation sequencing in Moroccan families clinically diagnosed with a neuromuscular disorder Open

Khaoula Rochdi, Mathieu Cérino, Nathalie Da Silva, Valérie Delague, Aymane Bouzidi , et al. · 2022

The identification of underlying genes of genetic conditions has expanded greatly in the past decades, which has broadened the field of genes responsible for inherited neuromuscular diseases. We aimed to investigate mutations associated wi…

Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder Open

Khaoula Rochdi, Mathieu Cérino, Nathalie Da Silva, Valérie Delague, Aymane Bouzidi , et al. · 2021

Staphylococcal Epidermolysis: A Case Report Open

Nadia Mebrouk, Hamza Berrada, Yamna Kriouile, Asmaa Mdaghri Alaoui · 2021

Acute staphylococcal epidermolysis, also known as staphylococcal scalded skin syndrome (SSSS), in young children is caused by the release of exfoliative toxins A and B (ETA and/or ETB) from an initial outbreak which can be ear-nose-throat,…

Clinical and Biological Characteristics of Congenital Hypothyroidism: A Family Case Study Open

Nadia Mebrouk, A. Gaouzi, Asmae Touzani, Yamna Kriouile · 2021

Hypothyroidism is the condition of thyroid hormone deficiency. It can be primary or acquired. Primary hypothyroidism can be congenital or late onset. The symptoms of congenital hypothyroidism may go unnoticed in newborns if undiagnosed. Un…

First characterization of congenital myasthenic syndrome type 5 in North Africa Open

khaoula rochdi, Mathieu Cérino, Nathalie Da Silva, Valérie Delague, Halima Nahili , et al. · 2021

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report Open

Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani , et al. · 2021

Background Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare autosomal recessive genetic condition caused by deleterious mutations in the LAMA2 gene encoding the laminin-α2 chain. It is the most frequent subtype of …

First Characterization of Congenital Myasthenic Syndrome Type 5 in North Africa Open

khaoula rochdi, Mathieu Cérino, Nathalie Da Silva, Valérie Delague, Halima Nahili , et al. · 2021

Congenital myasthenic syndromes (CMS) are associated with defects in the structure and the function of neuromuscular junctions. These rare disorders can result from mutations in the collagenic tail of endplate acetylcholinesterase (COLQ) e…

Growth Delay in Children: Experience of the Department of Metabolic and Endocrine Diseases at the Children's Hospital of Rabat Open

Asmae Touzani, Tahri Joutei Abderrafie, K. Hajar, Abdellah Dami, Balouch Lhousaine , et al. · 2021

Objective: The aim of our study is to describe the epidemiological, clinical and biological aspects of staturo-ponderal delay and to deduce the main etiologies. Material and Methods: the study was carried out on 141 patients (78 boys and 6…

Phenylketonuria and the Interest of Introducing a Systematic Neonatal Screening: Case of Morocco Open

Chaimae khairoun, Hajar Rhouda, Ghizlane Zouiri, Sanae Moussaoui, Yamna Kriouile · 2020

Phenylketonuria is a serious metabolic disease caused by a defect in the enzyme that breaks down an amino acid.Untreated, it can lead to behavioural problems and mental disorders.Our work concerns a prospective study of 23 cases, of childr…

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination Open

Stéphanie Efthymiou, Vincenzo Salpietro, Nancy T. Malintan, Mallory Poncelet, Yamna Kriouile , et al. · 2019

See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify bialleli…

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment Open

Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas, Christine G. Spaeth, Stéphanie Efthymiou , et al. · 2019

Mésusage traditionnel du camphre: un danger oublié pour les enfants (à propos de 2 cas) Open

Naoual Nchinech, Afaf Elgharbi, Fatima Zahra Aglili, Yamna Kriouile, Yahia Cherrah , et al. · 2019

In our country, the use of traditional medicinal recipes and artisan cosmetic products is very frequent due to the high rate of illiteracy, low purchasing power and of the large number of herbalists. Camphor is a low-cost product, easily a…

Children with Down Syndrome (DS), and Autism Spectrum Disorder (ASD): Difficulties of Screening and Management of This Dual Diagnosis about 3 Cases Open

Khaoula Mammad, Meryem Chkirat, Yamna Kriouile, Asmaa Mdaghri Alaoui · 2019

Down syndrome and autism spectrum disorder can be combined at the child attained; this dual diagnosis is stressful for the parents and is often overlooked by the health and education professionals of these patients. Through three observati…

Anti-N-methyl-D-aspartate receptor encephalitis in children: a case report Open

Hajar Rhouda, Khadija Abboudi, Yamna Kriouile · 2018

Management of X-linked adrenoleukodystrophy in Morocco: actual situation Open

F. Benjelloun, Yamna Kriouile, David Cheillan, H. Daoud-Tetouani, Layachi Chabraoui · 2017

We developed three protocols of X-linked Adrenoleukodystrophy management: general protocol, asymptomatic protocol, and heterozygous protocol. Over a period of 5 years, we recruited eight families with 16 patients. Clinically, the presentat…

Développement d’un programme multidisciplinaire de diagnostic de l’adrénoleucodystrophie liée à l’X au Maroc: résultats de la mise en œuvre du programme de diagnostic clinique et biologique Open

F. Benjelloun, Layachi Chabraoui, Yamna Kriouile · 2017

X-ALD is a rare disease. Our diagnostic program has helped to diagnose a significant number of cases, hence its importance. Campaigns focused on raising awareness among health care professionals will enable a better understanding of the di…

Clinical and genetic data of Huntington disease in Moroccan patients Open

Ahmed Bouhouche, Wafaa Regragui, Hind Lamghari, Khadjia Khaldi, Nazha Birouk , et al. · 2016

Clinical and genetic data of Moroccan patients are similar to those of Caucasian populations previously reported in the literature.

Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report Open

Maria Zerkaoui, Ilham Ratbi, Barbara Castellotti, Cinzia Gellera, Jaber Lyahyai , et al. · 2015

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