Celiac Disease and Autoimmune Diseases in a Pediatric Population in Morocco: A Cross-Sectional Study.

INTRODUCTION: Celiac disease (CD) is defined as an autoimmune disease (AD) caused by gluten ingestion in genetically sensitive individuals. Several publications have demonstrated the increased risk of AD in patients with CD, both adults and children, which requires systematic research. Our study aimed to determine the prevalence of AD in 60 patients diagnosed with CD and to highlight risk factors that may contribute to the emergence of AD. MATERIALS AND METHODS: We collected medical data from all CD patients under 16 years of age who also had AD. Our study was conducted in the Gastroenterology-Hepatology and Pediatric Nutrition Unit of the Pediatrics Department of the Mohamed VI Hospital and University Center in Oujda, Morocco, during a seven-year period between January 2017 and January 2024. RESULTS: We studied 60 patients with CD in our study. Eight patients (13%) had an associated AD. Their average age was eight years, with extremes varying between two and 15 years. AD was diagnosed before CD in six cases (75%), in parallel with CD in one patient (12.5%), while in only one case, it was diagnosed after CD (12.5%). All our patients had a single AD associated with CD. These ADs were mainly type 1 diabetes in seven cases and autoimmune thyroiditis in only one case. All our patients followed a gluten-free diet in addition to specific treatment for associated AD. Nevertheless, despite regular medical follow-up and targeted dietary advice for the management of CD and associated AD, three patients encountered difficulties in following the recommended diet. CONCLUSION: Younger patients with CD have an increased risk of hypothyroidism and insulin-dependent diabetes. These data necessitate improved surveillance to discover these illnesses as early as possible in order to optimize management and reduce related consequences.

When Salmonella Manifests Through the Skin: Erythema Nodosum in a Pediatric Case.

Erythema nodosum (EN) is a non-specific nodular dermo-hypodermic rash characterized by the sudden occurrence of painful lumps located especially in the legs following a non-specific reaction to different internal and external antigens. Clinical and histological manifestations are stereotyped, regardless of the etiology. Erythema nodosum is most frequently associated with infections, particularly bacterial and less commonly viral, fungal, and parasitic. Other conditions can be discussed, including systemic diseases, malignant tumors, medicines, and vaccines. In almost half of cases, erythema nodosum is idiopathic if no cause is found. We report a case of erythema nodosum secondary to a Salmonella infection in a seven-year-old male. The peculiarity of our observation is the initial presentation of systemic signs that preceded the gastrointestinal symptoms.

A Case Report of an Uncommon Association of Total Intracardiac Anomalous Pulmonary Venous Return and Tetralogy of Fallot.

Total anomalous pulmonary venous return (TAPVR) represents a group of anomalies consisting of a lack of connection between the pulmonary veins and the left atrium. All oxygenated pulmonary venous return flows directly or indirectly into the right atrium. Survival is only possible with a right-to-left atrial shunt. It remains rare, accounting for less than 1% of all congenital heart diseases. Its association with tetralogy of Fallot is much rarer and has been documented in medical literature as isolated cases. Early prenatal diagnosis, rapid surgical repair, and optimal postoperative resuscitation appear to be the best guarantee of a favorable outcome following total repair of a pulmonary venous connection anomaly. Non-obstructed forms present as high-flow shunts with moderate cyanosis. The symptomatology of blocked forms is dominated by the obstruction to venous return; a clinical picture of respiratory distress with intense cyanosis and severe pulmonary arterial hypertension develops from the first days of life. Echocardiography is fundamental in diagnosing TAPVR. If the results are inconclusive, magnetic resonance imaging and computed tomography are appropriate alternatives for establishing a complete and accurate diagnosis. We report a case of a two-month and 22-day-old infant who is a product of a twin pregnancy, presenting with a non-obstructed TAPVR associated with tetralogy of Fallot, and his twin who died on day 20 of life, likely due to a complex cyanotic congenital heart disease.

A Fatal Case Report of Chenopodium ambrosioides L. (M'khinza) Intoxication.

Chenopodium ambrosioides L. is a plant belonging to the Chenopodiaceae family, known for its use in traditional medicine as a remedy for its antiseptic, analgesic, antipyretic, antispasmodic, and anti-inflammatory properties. It is used for its therapeutic properties internally as an infusion or externally as a vermifuge. Its use can be responsible for serious, even fatal, side effects and intoxications, particularly in infants and children. These may include neurological, digestive, hepatic, or renal complications. We present a case of Chenopodium ambrosioides L. intoxication in a four-year-old girl, resulting from repeated high-dose infusions of this plant for antipyretic purposes. She was admitted to the pediatric emergency department for management of a disorder of consciousness four hours after ingesting Chenopodium ambrosioides L. to treat acute fever.

Beyond the Rib Cage: Unraveling Abernethy Syndrome as a Rare Cause of Cyanosis.

Abernethy syndrome is a rare congenital malformation stemming from a portosystemic shunt. Diagnosis proves challenging due to nonspecific clinical symptoms, with presentation varying based on age and disease severity. Consequences include hepatic, cardiovascular, renal, gastrointestinal, and neurological complications, and growth retardation. We report the case of a child presenting with perioral and digital cyanosis, observed in early childhood. Clinical examination revealed low saturation, telangiectasias, digital clubbing, and collateral venous circulation in the thorax. Imaging confirmed the diagnosis of Abernethy syndrome.

Prevalence and Determinants of the Use of Antibiotics by Self-Medication in the Pediatric Population in Oujda, Morocco.

OBJECTIVE: Antibiotic resistance driven by antibiotic self-medication and inappropriate use of antibiotics is a growing global health threat. Our study aimed to describe parents' self-medication practices with antibiotics, determine the factors favoring their use in the pediatric population, and assess parents' knowledge of the role of antibiotics and antimicrobial resistance. MATERIALS AND METHODS: We conducted a cross-sectional study over two months (September and October 2023). Data collection was performed using a questionnaire-guided interview. We included 460 parents of children consulting or hospitalized in the Pediatric Department of the University Hospital Mohammed VI in Oujda, Morocco. RESULTS: A total of 62% of parents questioned were mothers. Self-medication with antibiotics was noted in 313 families (68%). Parents used antibiotics mainly to treat cough (43%) and fever (24%). Betalactams were the antibiotic class most used by parents (72%). Information on dosage and methods of antibiotic administration was provided by pharmacy staff but was not respected by most parents (78%). Efficacy of treatment (58%), saving consultation costs and time (47%), and the ease of obtaining treatment without a prescription (42%) were reported in the majority of cases as reasons for using antibiotics by self-medication. In our context, the probability of self-medicating with antibiotics in the pediatric population is increased by female gender (OR=1.04), low level of education (OR=1.02), low socio-economic status (OR=1.09), and buying antibiotics without a prescription (OR=1.22). CONCLUSION:  Although antibiotic self-medication in children is a worldwide phenomenon, influenced by several geographical, cultural, and economic factors, there is an urgent need to promote a global health strategy.

Acceptance, Hesitancy, and Refusal Among Parents of Young Girls in Relation to Human Papillomavirus Vaccination: A Study From the Mohammed VI University Hospital Center in Oujda, Morocco.

INTRODUCTION: Morocco has joined the global efforts to eliminate cervical cancer by introducing human papillomavirus (HPV) vaccination into its national immunization program. However, vaccination rates remain insufficient relative to the importance of the vaccine. Therefore, the objective of the study was to understand better the factors associated with acceptance, hesitance, or refusal of the HPV vaccine. MATERIALS AND METHODS: A descriptive and analytical study was conducted among 450 parents of girls of HPV vaccination age at the Mohammed VI University Hospital Center in Oujda, Morocco, over a period of three months. RESULTS: A total of 450 parents were included in the study, most of them being mothers. Most parents were unaware of HPV infection (66%) or the HPV vaccine (62%). The rate of HPV vaccination among the study population was only 33%. Factors associated with nonvaccination included a lack of information about the HPV vaccine (57%), concern about side effects (33%), and unvaccinated family and friends (10%). Parents' intention to vaccinate their daughters was significantly lower in fathers (95% confidence interval, or 95% CI = 0.34-0.66), those with a low educational level (odds ratio, or OR = 0.53; 95% CI = 0.40-0.80), and those with an unfavorable socioeconomic level (OR = 0.41; 95% CI = 0.30-0.56), whereas it was significantly higher in cases of a vaccinated entourage, including friends and family (OR = 1.52; 95% CI = 1.22-2.12), and when vaccination was recommended by a doctor (OR = 1.92; 95% CI = 1.56-2.39). CONCLUSION: The results of our study highlighted parents' lack of information about HPV infection and the HPV vaccine. They also revealed a clear lack of HPV vaccination coverage and identified the reasons for reluctance to vaccinate against HPV. Much remains to be done to increase the rate of HPV vaccination in Morocco.

A Rare Case Report of Benign Intracranial Hypertension Caused by Hypervitaminosis A.

Benign intracranial hypertension (BIH) in children is recognized as elevated intracranial pressure without hydrocephalus or intracranial mass. It manifests differently in adults, with no apparent predilection for sex or weight. Headache, papilledema, and possibly sixth nerve palsy with visual field defects are the typical symptoms of this syndrome. Vitamin A toxicity is a rare cause of BIH. We report the case of a previously healthy 13-year-old girl presenting with photophobia, a frontal headache, and vomiting. She had bilateral papilledema discovered by fundoscopy. Both magnetic resonance imaging and brain CT were normal. At admission, a lumbar puncture (LP) revealed an opening pressure of 26 cm H2O with normal cerebrospinal fluid (CSF) analysis. The diagnosis of BIH was established, and treatment with acetazolamide was started, with good clinical results. Regular eye evaluations showed a regression of papilledema. Elevated serum vitamin A levels were the only positive findings. Within two weeks, the patient was discharged without any symptoms. This study aims to attract the attention of clinicians to the importance of evaluating vitamin A toxicity in the context of papilledema and oculomotor problems in a child who has undergone normal neuroradiological investigations.

Ophthalmic Shingles in Children: A Rare Form and a Danger to Be Aware of.

Shingles in children is rare, especially the ophthalmic form. The occurrence of shingles in children is exceptional but often benign, requiring only symptomatic treatment. Antivirals are exceptionally used for complicated forms, which are mainly seen in immunocompromised individuals or in ophthalmic locations that can lead to severe ocular complications. Various studies agree on the benign nature of this condition in immunocompetent children and an excellent prognosis. We report a case of ophthalmic shingles in an immunocompetent child aged two years and seven months. The purpose of this clinical case was to emphasize the importance of early antiviral treatment to limit corneal involvement and preserve visual function.

Lupus Hepatitis: A Rare Manifestation Revealing Systemic Lupus Erythematosus.

Systemic lupus erythematosus (SLE) is a rare disease in children but is more severe than in adults. SLE may be associated with various non-specific hepatic manifestations, but subacute lupus hepatitis remains unusual and is rarely a mode of revelation. Diagnosis is based on a combination of clinical, laboratory, and histological findings after ruling out other causes of hepatitis, notably autoimmune hepatitis (AIH). We report the case of a young girl with undiagnosed SLE, which first revealed itself as liver involvement and progressed well on corticosteroid therapy. During the course of her illness, she presented with other manifestations that led us to think of SLE with lupus hepatitis.

Wilson Disease in Children in the Eastern Region of Morocco: Analysis of 24 Cases.

Wilson's disease (WD), or "hepato-lenticular degeneration," is a rare genetic disorder of autosomal recessive inheritance causing toxic tissue accumulation of copper, mainly in the liver, brain, and cornea. Its phenotypic and genotypic heterogeneity characterizes it. This study aimed to clarify the clinical features and spectrum of Wilson's disease in children from the eastern region of Morocco and to study the evolutionary profile and survival in this population while discussing and highlighting the various diagnostic and therapeutic difficulties encountered in the management of WD in our context. This retrospective study encompassed 24 children diagnosed with Wilson's disease, selected from the gastroenterology-hepatology and pediatric nutrition units at Mohamed VI University Hospital in Oujda, Morocco, over a span of nine years, from January 2015 to November 2023. Our series results show 14 boys and 10 girls; the median age of discovery was 11 years, with extremes ranging from 18 months to 15 years. The consanguinity was found in 13 patients. Clinically, the edemato-ascitic syndrome was noted in 14 patients with an alteration of the general state; icterus was found in 13 patients; signs of portal hypertension were present in six patients; and neurological signs in seven cases. Skin manifestations occurred in three cases, and arthralgia in three cases. Six children were diagnosed on the occasion of a family screening. Biologically, hepatic cytolysis was found in 20 patients, with signs of hepatocellular failure in 15 cases. Hemolytic anemia was present in nine patients. Ceruloplasminemia was decreased in 21 patients and cupremia in 19 patients. Cupruria was increased in 22 cases. The Kayser-Fleicher ring was found in 10 cases. Abdominal ultrasound showed ascites in 16 patients, hepatomegaly in 1, splenomegaly in two cases, hepatosplenomegaly in five cases, and cirrhosis in two. MRI showed signal abnormalities in 11 patients. Therapeutically, D-penicillamine was initially introduced in 18 patients and zinc acetate in 6 patients. The evolution was favorable for 15 patients still followed up in the department. Three patients died of hepatocellular failure, and two died of hepatic encephalopathy. Four patients were lost to follow-up.

A Rare Case of Trichobezoar Revealing Undiagnosed Celiac Disease.

Trichobezoar is a relatively rare condition in children, mainly observed in young girls with psychiatric disorders. While documented cases of trichobezoar associated with celiac disease exist, such occurrences remain uncommon in the literature. The association between the two can be explained either by behavioral disorders resulting from a deficiency in iron and folic acid or directly by celiac disease. Treatment is predominantly surgical, and psychological support plays a crucial role in preventing the likelihood of recurrence. We present an unusual case involving the discovery of gastric trichobezoar in a 15-year-old girl who had undiagnosed celiac disease. The condition manifested after she experienced abdominal pain and pallor.

A rare case of steroid 11 beta-hydroxylase deficiency in a child revealed by acute pulmonary edema.

We report the case of a 5-year-old boy diagnosed with congenital adrenal hyperplasia due to 11-hydroxylase deficiency, revealed by disorders of sex development (DSD) and acute pulmonary edema due to severe hypertension. We considered the diagnosis based on biological and radiological examinations. The sociocultural background and the delayed diagnosis had a significant impact on the therapeutic decisions. All babies should be screened for 11 beta-hydroxylase deficiency, there should be specialized and interdisciplinary medical centers, and early detection is essential to avoiding serious complications of this disease.

Exceptional case of a hemangioma-like rabdomyosarcoma in the hand's palm.

Rhabdomyosarcoma is a malignant tumor in children that might mimic a benign tumor, such as infantile hemangioma, particularly when detected early. Although rhabdomyosarcoma rarely occurs in the hand, its prognosis is generally poor, and successful treatment relies on a complete and radical surgical excision. We present a case of rhabdomyosarcoma located in the palm of an infant's hand, initially presenting clinical and radiological features suggestive of a vascular tumor. The resection of this mass was radical, and histological analysis and immunohistochemistry returned in favor of embryonic rhabdomyosarcoma. In similar cases recorded in the literature, the diagnosis may be first mistaken for that of a hemangioma, then confirmed by histology. This underlines the importance of a systematic anatomopathological examination of all tissues removed surgically.

When Tuberculosis Defies Appearances: The Tale of a Deceptive Abdominal Mass on Imaging.

Tuberculosis poses a significant public health challenge, especially in highly endemic countries. Rarely, it appears as an abdominal mass resembling a malignant abdominal tumor and can be misleading on imaging, so early diagnosis remains a challenge, and confirmation may require invasive examinations such as laparotomy. The most characteristic radiological appearance is that of a solid, hypervascular, or peripherally enhancing mass with a hypodense center. We present a case of retroperitoneal tuberculosis that simulated a teratoma on imaging. This case highlights the diagnosis difficulties even in endemic countries, despite advances in imaging techniques such as ultrasound and computed tomography.

An overview of a preliminary multicenter retrospective study on food and drug allergies in Moroccan pediatric population.

Introduction: this study aimed to investigate the prevalence and management of food allergies (FA) and drug allergies (DA) in Morocco. Sparse and conflicting epidemiological data exist on the exact prevalence of allergies in the country. The rise in allergies can be attributed to various factors. Methods: the study analyzed data from patients with suspected FA and DA who sought medical attention. Statistical tests were used to analyze the data, percentages were computed for qualitative variables, and for quantitative variables, medians or means accompanied by standard deviations (SD) were calculated. The Chi-square test was employed to assess categorical variables. A p-value < 0.05 was considered statistically significant. Results: Cow's milk was the most reported food allergen (58.2%), followed by egg and nuts (23.4% and 12.1%, respectively). The most affected age group was children under 5 years. Antibiotics were the leading cause of reported drug allergies (44.8%), particularly Beta-lactams. Immediate reactions were commonly associated with antibiotics and nonsteroidal anti-inflammatory drugs (NSAIDs). Symptoms of FA included acute urticaria, vomiting, anaphylactic shock, and facial edema. Urticaria was the most frequent symptom of DA. Antihistamines and corticosteroids were the main treatments used for both FA and DA. Conclusion: the prevalence of FA and DA in Morocco remains uncertain due to limited data. There is a need for centralized data collection and awareness among clinicians and the general population regarding allergies. The study highlights the importance of proper diagnosis and management of allergies to ensure patient safety. The findings emphasize the necessity of establishing a mandatory center for allergy care in Morocco to improve the understanding and management of allergic conditions.

Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis.

Introduction: Triple-A syndrome (Triple-A) is an autosomal recessive disorder characterized by alacrimia, achalasia, and adrenal insufficiency. Several variants on the AAAS gene have been described, and some variants are clustered in particular geographical areas, such as the c.1331+1G>A variant which is very frequent in North Africa. Here, we describe the genetic features of Triple-A in a series of unrelated families from Morocco. Methods: Screening for the AAAS c.1331+1G>A variant was performed by direct sequencing or by PCR-RFLP. Haplotype analysis using Single Tandem Repeat (STR) markers flanking AAAS gene was performed in order to evaluate the founder effect and estimate the age of the c.1331+1G>A variant. Results: Seven unrelated families with ten individuals clinically diagnosed with Triple-A were evaluated for sequence variations in the AAAS gene. The median age at diagnosis was 3 years, with a range between 2 and 11 years. Molecular analysis revealed that all patients were homozygous for the c.1331+1G>A variant. This variant was not found in 200 healthy controls, indicating that carriers are very rare in the general Moroccan population. Subsequently, STR marker analysis revealed a founder effect and that the most recent common ancestor of Triple-A patients in Morocco would have lived 125 years ago. Conclusion: This is the largest series of Triple-A in Morocco. The same AAAS c.1331+1G>A variant was found in all patients, suggesting a founder effect in Morocco which was subsequently confirmed by microsatellite marker analysis. Therefore, this variant should be systematically investigated to diagnose Triple-A in Morocco.

First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array.

BACKGROUND: Chromosomal abnormalities are the main cause of birth defects, intellectual disability, and miscarriages. They contribute to significant human morbidity and infant mortality. Here we report for the first time the chromosomal abnormalities encountered in the population of Eastern Morocco. Furthermore, we describe a new case of a de novo partial trisomy 13q combined with a terminal deletion in an 11-day-old girl. METHODS: From November 2015 to March 2022, 195 patients from the BRO Biobank who were clinically suspected of having chromosomal abnormalities were referred to the cytogenetics laboratory of the Genetics Unit of the Faculty of Medicine and Pharmacy of Oujda for cytogenetic study. Karyotyping analysis was performed on peripheral blood samples using standard R banding techniques. To identify single-nucleotide polymorphism (SNP) and copy number variants (CNVs), Illumina SNP array was used. RESULTS: Among 195 studied cases, 32 (16.4 %) had abnormal karyotypes, of which 12 cases had numerical aberrations while 20 cases had structural aberrations. The most common numerical aberrations were Turner syndrome and Down syndrome followed by Edward, Patau, and Klinefelter syndromes. For structural aberrations, translocations were the most common, followed by derivative chromosomes, inversions, deletions, and an addition on chromosome 13 identified in an 11-day-old girl. To further characterize this addition, SNP array was carried out and revealed a 58.8-Mb duplication in region 13q14.3q34 associated with a 1-Mb deletion in region 13q34. Follow-up parental chromosomes analysis showed normal karyotypes for the parents, confirming that this partial trisomy 13q was de novo. Comparison of the phenotype associated with this novel duplication on chromosome 13q with those previously reported confirmed the considerable variability in the phenotype of the patients with partial trisomy 13q. CONCLUSION: This study provided the first report on chromosomal abnormalities in Eastern Morocco and it enriched the phenotype spectrum of partial trisomy 13q and further confirmed the genotype-phenotype correlations. Furthermore, these findings justify the need to set up microarray comparative genomic hybridization techniques in Morocco for better genetic diagnosis.

Phenotype and molecular characterization of Wilson's disease in Morocco.

BACKGROUND AND STUDY AIMS: In Morocco the prevalence of Wilson disease (WD) and the spectrum of mutations are not known. The aim of the present study was to estimate the prevalence of WD in Morocco, to evaluate the phenotype among a large cohort of WD patients, and to characterize ATP7B variants in a subgroup of WD patients. PATIENTS AND METHODS: We collected data from 226 patients admitted to five university hospital centers in Morocco between 2008 and 2020. The diagnosis was based on clinical manifestations, function tests and biochemical parameters. The genotype was characterized in 18 families diagnosed at the University Hospital Center of Marrakesh, by next generation sequencing. RESULTS: The mean annual prevalence in Morocco was 3.88 per 100,000 and the allele frequency was 0.15 %. Among the 226 patients included (121 males and 105 females), 196 were referred for a hepatic or neurological involvement and 30 were asymptomatic. The mean age at diagnosis was 13 ± 5.1 years (range: 5 - 42 years). Consanguinity was found in 63.3 % of patients. The mean duration of illness was 2.8 ± 1.9 years. Kayser-Fleischer rings were found in 131 (67.9 %) of 193 patients. Among the 196 symptomatic patients, 141/159 (88.7 %) had low serum ceruloplasmin (<0.2 g/L) and a high 24-hours urinary copper (>100 µg/day) was found in 173/182 (95.1 %) patients. The initial treatment was D-penicillamine in 207 patients, zinc acetate in five, zinc sulfate in five, and nine patients were not treated; 60/207 (29 %) patients have stopped treatment. A total of 72 patients died; the mortality rate was 31.9 %. Eight different ATP7B variants were identified among the 18 patients studied, of which two were novel (p.Cys1104Arg and p.Gln1277Hisfs*52), and six previously published (p.Gln289Ter, p.Cys305Ter, p.Thr1232Pro, p.Lys1020Arg, p.Glu583ArgfsTer25 and c.51+4A>T). All informative patients were homozygous for the disease-causing mutation. CONCLUSION: In Morocco, a high prevalence due to consanguinity and a high mortality rate due to the difficulty of diagnosis and lack of treatment were observed in WD patients. NGS sequencing identified new ATP7B variants in WD patients from Morocco.

Moebius Syndrome: A Case Report on an Uncommon Congenital Syndrome.

Moebius syndrome (MS) is rare. It is defined by congenital bilateral paralysis of the sixth and seventh cranial nerves, resulting in an absence of mimicry and strabismus responsible for major relational disorders. Other cranial nerves can also be affected (third, fourth, fifth, ninth, tenth, and twelfth cranial pairs). In the majority of cases, MS is sporadic, causing problems with sucking, swallowing, breathing, and phonation. Associated malformations have also been reported. The disease is not progressive, and management is mainly symptomatic. We report a three-year-old girl who presented with facial asymmetry and in whom the MS was confirmed through magnetic resonance imaging (MRI). A multidisciplinary approach was conducted on our patient and is currently being followed up in the neuropediatrics department, and an ophthalmological examination is scheduled. Additionally, she had medical consultations with a plastic surgeon for smile rehabilitation. On the other hand, psychological support was maintained.