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.

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.

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.

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.

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.

Corrigendum to Acute pancreatitis following L-asparaginase in acute lymphoblastic leukemia.

[This corrects the article DOI: 10.1016/j.lrr.2022.100357.].

Glycogen Storage Disease Type I With Hypercalcemia in an Infant: A Case Report.

Glycogen storage disease type I (GSDI) is an uncommon condition resulting from a deficiency or absence of glucose-6-phosphatase, a key enzyme in regulating blood glucose levels. In this report, we describe a two-month-old girl diagnosed with GSDI who presented to the emergency department in a tertiary care hospital for irritability, excessive crying, and hyperventilation. She was found to have hepatomegaly and hypoglycemia. Laboratory investigations showed high levels of triglycerides, lactic acid, uric acid, and calcium. The combination of hypertriglyceridemia, hypoglycemia, and hepatomegaly should alert neonatologists and pediatricians to consider GSDI in the diagnosis. Hypercalcemia arose as an unknown problem in GSDI patients and should be considered during acute attacks.

Severe Kawasaki Disease and Thrombocytopenia: A Case Report.

Kawasaki disease (KD) or lymphocutaneous mucosal syndrome is a medium vessel vasculitis of unknown mechanism, which mainly affects the coronary arteries. The diagnosis is mainly based on clinical criteria. Biologically, thrombocytosis is the usual biological disturbance of this disease. Herein, we report a 2-year and 10-month-old girl, who was admitted to our department for a febrile rash that had been evolving for seven days prior to her admission. Clinical examination revealed a rash involving the entire body, conjunctivitis, cheilitis, and a strawberry tongue. A biological inflammatory syndrome could be identified with thrombocytopenia at 91,000/mm3. The patient received intravenous immunoglobulins and acetylsalicylic acid with a favorable evolution and complete resolution of thrombocytopenia.

Salmonella Meningitis in a Young Infant: A Case Report.

Salmonella meningitis is a rare but severe form of bacterial meningitis. It is most frequently diagnosed in infants under one year of age, especially those under the age of three months, from emerging and underdeveloped countries and with a tropical climate. Salmonella meningitis has been associated with a high mortality rate, as well as a high risk of relapse and significant neurological complications such as cerebral palsy, visual and hearing impairments, and mental retardation. The treatment for Salmonella meningitis is challenging, and there is no consensus on the best approach. In this report, we describe a case of Salmonella meningitis in a 37-day-old girl exclusively formula-fed baby girl who was admitted for high fever, irritability, poor feeding, low activity, excessive crying for five days, and repeated seizures on the day of admission. The infant was treated with a four-week course of intravenous antibiotics. Given the severity of this infection and its potential long-term consequences, early diagnosis, and prompt treatment are crucial. However, this patient recovered without neurological disorders.

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.

[Contribution of cytogenetic in the diagnosis of Edwards's syndrome: about 9 cases]. / Apport de la cytogénétique dans le diagnostic du syndrome d'Edwards : à propos de 9 cas.

INTRODUCTION: Trisomy 18 is a constitutional chromosomal disorder defined by the presence of a supernumerary chromosome 18. The diagnosis is suspected clinically and confirmed by cytogenetic analysis. Genetic counseling for patients' families is important. The objective of this study is to report our experience in Medical Genetics Department at the Mohammed VI University Hospital of Oujda in the diagnosis and genetic counseling of trisomy 18 through dysmorphological expertise and cytogenetic analysis. MATERIAL AND METHODS: We report a retrospective descriptive study over a period of four years (2018-2022) of nine patients with polymalformative syndrome suggestive of trisomy 18 who underwent cytogenetic analysis. RESULTS: The median age of patients at diagnosis was 2 days with a male predominance. The mean maternal age at birth of the patients in our series was 40 years. Consanguinity was found in only one patient. All patients had a typical phenotype of trisomy 18. The postnatal constitutional karyotype showed a homogeneous trisomy 18 in all patients. In our series, only one patient is still alive at the age of 7 months, the other 8 patients died with a median postnatal survival of 5 days. CONCLUSION: We underline through this study, the contribution of the medical geneticist in the clinic and cytogenetic diagnostic approach of rare chromosomal affections, in order to provide an adequate genetic counseling to the families.

Pediatric Inflammatory Multisystem Syndrome Temporally Associated With SARS-CoV-2 (PIMS-TS) and Serous Effusions in a Child With Severe Hypoalbuminemia: A Case Report.

In April 2020, Pediatric Inflammatory Multisystem Syndrome temporally associated with severe acute respiratory syndrome coronavirus 2 or SARS­CoV­2 (PIMS-TS) was described for the first time in children. Since then, many countries have registered hundreds of cases with clinical similarities to Kawasaki disease. We report the case of a five-year-old boy diagnosed with PIMS-TS who presented myocarditis with serous effusions (pleurisy, ascites, pericarditis) due to severe hypoalbuminemia. This case sheds light on the importance of hypoalbuminemia in evaluating the severity of PIMS-TS and preventing its complications. The patient was successfully treated with intravenous immunoglobulins and oral prednisone.

A Case of Scurvy in a Child: An Uncommon but Important Diagnosis to Consider.

Scurvy is a rare disease resulting from a prolonged ascorbic acid deficiency. It commonly affects individuals with low incomes and limited access to fresh fruits and vegetables. The diagnosis of scurvy can be challenging for clinicians due to the non-specific symptoms, resulting in extensive investigations and a delayed diagnosis. We report the case of a 14-year-old girl who presented with symptoms of pallor, bone pain, inability to walk, petechiae, ecchymosis of the lower limbs, irritability, and swollen, bleeding gums. Initially, the symptoms raised suspicions of hematopoietic malignancies, such as leukemia, and the patient underwent a series of invasive diagnostic exams before arriving at the correct diagnosis. Following a detailed dietary anamnesis with the parents, it became evident that the patient had a limited intake of fresh fruits and vegetables. A vitamin C blood test confirmed the diagnosis of scurvy. The prompt resolution of the clinical symptoms after the administration of vitamin C provided further confirmation of the diagnosis. This case highlights the importance of considering a patient's medical history and symptoms rigorously to avoid unnecessary, expensive, and invasive medical procedures, as well as to prevent potential misdiagnosis.

Chronic renal failure revealing a spinal arachnoid cyst, a case report with literature review.

INTRODUCTION: Extradural arachnoid cyst (KAED) is a rare and benign condition, accounting for approximately 1 % of all spinal expansive lesions. The pathogenesis of KAED is uncertain and appears to be multifactorial. Spinal compression symptoms are rarely indicative, and KAED is usually discovered incidentally. MRI is the radiological test of choice as it allows for precise characterization of the cyst. Early identification and management of KAED is crucial to prevent complications and ensure timely intervention. CASE PRESENTATION: A 7-year-old girl with a nomadic lifestyle presented with sphincterian disorders without any other neurological abnormalities. Further investigation, including biological tests, revealed chronic kidney failure. A spinal MRI identified an intra-spinal extradural dorso-lumbar arachnoid cyst extending from D10 to L1, located posteriorly. The cyst was promptly removed with favorable postoperative outcomes. The patient was discharged with a treatment of vitaminocalcic and martial supplementation for his chronic renal insufficiency and a regular follow-up in consultation. CLINICAL DISCUSSION: Arachnoid cyst is a rare benign condition that can be discovered incidentally (Agnoli et al., 1982; Chan et al.; 1985). The symptoms are the results of compression exerted by the cyst on the cord and they vary according to the level of compression of the spinal cord or the nerve roots, but the symptomatic form is a situation which remains rarely described (Charisseauj et al., 1992). In this particular case, the cyst was identified due to a series of symptoms related to acute renal insufficiency, which exacerbated pre-existing chronic renal insufficiency. This was further complicating untreated sphincter disorders. This highlights the significance of timely diagnosis and treatment to prevent severe complications that may otherwise develop from a benign condition. With early intervention, favorable outcomes can be achieved in most patients (Kendall et al., 1982). CONCLUSION: With the advancement of neuroimaging and the widespread availability of MRI as the gold standard, extradural arachnoid cysts (KAED) can now be incidentally discovered in asymptomatic patients. Once diagnosed, surgical intervention is typically recommended to prevent irreversible neurological damage. Further research is needed to better understand the pathogenesis of KAED and establish optimal diagnosis and treatment strategies, particularly in pediatric patients, for this rare condition.

Genetic Diagnosis of Inborn Errors of Immunity in an Emerging Country: a Retrospective Study of 216 Moroccan Patients.

PURPOSE: Genetic testing provides great support to validate the clinical diagnosis of inborn errors of immunity (IEI). However, the high cost and advanced technology make these tests inaccessible to a large proportion of patients in low-income countries. In the present study, we aim to evaluate the Moroccan experience in genetic testing and to report the main molecular features and difficulties encountered in genetic diagnosis. METHODS: We performed a multi-center retrospective analysis of all patients with a molecular diagnosis and registered in the national registry between 2010 and 2022. To estimate the impact of the newly identified mutations, we calculated the Combined Annotation Dependent Depletion (CADD) score and the mutation significance cutoff (MSC) for each variant. RESULTS: A total of 216 (29%) patients received a genetic diagnosis out of 742 patients with IEI included in the registry. All genetic tests were performed in the context of thesis projects (40%) or international collaborations (60%). A set of 55 genetic defects were identified, including 7 newly reported: SNORA31, TBX21, SPPL2A, TYK2, RLTPR, ZNF341, and STAT2 GOF. Genetic diagnoses were more frequent in the defects of innate and intrinsic immunity with a percentage of 78%, while antibody deficiencies had a lower frequency with a percentage of 17.5%. Only one genetic diagnosis has been made in the complement deficiency group. The most commonly used molecular techniques were Sanger sequencing (37%) followed by targeted gene sequencing (31%). CONCLUSION: The thesis projects and collaborations were beneficial as they allowed us to provide a definitive genetic diagnosis to 29% of the patients and to contribute to the identification of new genetic defects and mutations. These results offer insight into the progress made in genetic diagnoses of IEI in Morocco, which would provide a baseline for improving the clinical management of patients with IEI.

Acute pancreatitis following L-asparaginase in acute lymphoblastic leukemia.

Acute lymphoblastic leukemia (ALL) is the most frequent malignancy in children,representing 25-30% of all childhood malignancies. Although treatment outcome has improved owing to advances in chemotherapy, there is still a group of patients who experience severe adverse events. L-Asparaginase is an effective antineoplastic agent used in chemotherapy of ALL. Despite its indisputable indication, it can cause various adverse effects, including acute pancreatitis (AP). Recently, an increase in the number of pediatric AP cases following L-Asparaginase in Acute Lymphoblastic Leukemia been reported. We presented a case of acute pancreatitis in children with ALL induced by administration of L-ASPA preparations.

Bean Syndrome in a Child Treated with Sirolimus: About a Case.

Bean syndrome (BS) or blue rubber bleb nevus syndrome is a rare clinical entity characterized by venous malformations mainly in the skin and digestive tract, whose hemorrhagic complications can be life threatening. We report a case of Bean syndrome in a 3-year-old child of nonconsanguineous parents, in whom the diagnosis of miliary hemangiomatosis was initially made in view of a huge mass on the left thigh, taking the knee, and then the progressive appearance of a skin disorder with bluish swellings of variable sizes spread over the whole body. The patient was put on beta-blockers but without improvement. The evolution was marked by an increase in the volume of the thigh mass. Ultrasound exploration coupled with Doppler imaging revealed the presence of angiomas in the thigh, requiring emergency surgery following a large hemorrhage. The patient underwent sclerotherapy. At the age of 18 months, the child returned with severe anemia and melena. The abdominal CT scan showed gallbladder intussusception secondary to an angioma requiring intestinal resection for hemostasis. At the age of three years, the angiomas worsened with an increase in volume, particularly on the face. The association of the cutaneous and digestive involvement of these venous malformations made us rectify the diagnosis. The patient was put on sirolimus (rapamycin), 2 mg/m2, with good evolution with a delay of 18 months; the patient presents no more episodes of bleeding with regression of the size of cutaneous angiomas. This observation underlines that BS is difficult to diagnose because of its low frequency, that sirolimus was effective and well tolerated in our patient, and that it can be suggested as a good and safe therapeutic option.

Complicated primary intestinal lymphangiectasia (Waldmann's disease) in a child successfully treated with octreotide: A case report from a low-resource setting.

INTRODUCTION AND IMPORTANCE: The primary intestinal lymphangiectasia is a rare exudative enteropathy of unknown etiology that affects the lymphatic system. It causes lymphedema and malabsorption syndrome by the escape of the lymph and its elements into the intestinal lumen. CASE PRESENTATION: A female patient, diagnosed at the age of 11 with Waldmann's disease, has initially manifested chronic diarrhea with a stature-ponderal delay at the age of 6 months old; she was treated for a long time as celiac disease patient. Edematous syndrome, chronic diarrhea, staturo-ponderal delay and asymmetric lymphedema of the upper limb are the main clinical symptoms in this case. In addition, the exclusion of secondary intestinal lymphangiectasia was important for the diagnosis. Before and during her follow-up, the patient presented two complications of the disease: warts and osteomalacia. The patient did not respond to treatment with the low-fat diet; therefore, the need to add treatment with octreotide was necessary, which has given quite pleasant results. Octreotide was the therapeutic choice to treat the patient as she was resistant to the appropriate regimen with clinical improvement; nevertheless, certain biological elements of lymphatic leakage persisted. DISCUSSION: Waldmann's disease is rare. It can be responsible, besides the typical signs, for complications including warts and osteomalacia. The histopathological study of intestinal biopsies may be normal if lymphangiectasias are localized. The treatment is based on a nutritional diet associated with octreotide. During the patient's follow-up, the evolution after almost two years of the introduction of octreotide compared to the diet alone showed improved outcomes. CONCLUSION: The treatment of Waldmann's disease is based on an adapted diet and octreotide. This case highlighted the importance of the long term follow-up in this disease.

Atypical Kawasaki Disease in an Adolescent with Multivisceral Involvement.

Kawasaki disease (KD) is a vasculitis mostly seen in children aged less than 5 years. It can involve different organs and tissues. Its diagnosis is based on the clinical criteria of the American Heart Association (AHA). We report a case of a Moroccan adolescent with an atypical presentation of KD initially treated as typhoid fever. Gastrointestinal, renal, and pulmonary signs were the main clinical findings that made the diagnosis of KD challenging and delayed. The consequence was a severe cardiac damage with myocarditis and coronary artery dilation. KD is uncommon in adolescents, and it is important to recognize the atypical forms and the different presentations of KD in order to prevent the delay of diagnosis and treatment, and hence the cardiac complications.

Morocco's First Biobank: Establishment, Ethical Issues, Biomedical Research Opportunities, and Challenges.

BACKGROUND: Biobanks are highly organized infrastructures that allow the storage of human biological specimens associated with donors' personal and clinical data. These infrastructures play a key role in the development of translational medical research. In this context, we launched, in November 2015, the first biobank in Morocco (BRO Biobank) in order to promote biomedical research and provide opportunities to include Moroccan and North African ethnic groups in international biomedical studies. Here, we present the setup and the sample characteristics of BRO Biobank. METHODS: Patients were recruited at several departments of two major health-care centers in the city of Oujda. Healthy donors were enrolled during blood donation campaigns all over Eastern Morocco. From each participant, personal, clinical, and biomedical data were collected, and several biospecimens were stored. Standard operating procedures have been established in accordance with international guidelines on human biobanks. RESULTS: Between November 2015 and July 2020, 2446 participants were recruited into the BRO Biobank, of whom 2013 were healthy donors, and 433 were patients. For healthy donors, the median age was 35 years with a range between 18 and 65 years and the consanguinity rate was 28.96%. For patients, the median age was 11 years with a range between 1 day and 83 years. Among these patients, 55% had rare diseases (hemoglobinopathies, intellectual disabilities, disorders of sex differentiation, myopathies, etc.), 13% had lung cancer, 4% suffered from hematological neoplasms, 3% were from the kidney transplantation project, and 25% had unknown diagnoses. The BRO Biobank has collected 5092 biospecimens, including blood, white blood cells, plasma, serum, urine, frozen tissue, FFPE tissue, and nucleic acids. A sample quality control has been implemented and suggested that samples of the BRO Biobank are of high quality and therefore suitable for high-throughput nucleic acid analysis. CONCLUSIONS: The BRO Biobank is the largest sample collection in Morocco, and it is ready to provide samples to national and international research projects. Therefore, the BRO Biobank is a valuable resource for advancing translational medical research.