Christ-Siemens-Touraine Syndrome: A Report of a Rare Pediatric Case.

Anhidrotic ectodermal dysplasia (AED), or Christ-Siemens-Touraine syndrome, is an X-linked recessive dermatosis. Rare in incidence, it affects 1 in 100,000 births, mostly boys. Through this observation, we detail the clinical signs that led us to suspect the diagnosis, how this pathology was confirmed, and the therapeutic management we carried out. We present a case of a 10-month-old boy presenting with altered manifestations affecting almost all the ectodermal structures like skin, hair, nails, teeth, sebaceous glands, sweat glands, and tear glands. He also had complete anodontia and a dry mouth. A multidisciplinary treatment was given to the patient with the collaboration of various health professionals. Although Christ-Siemens-Touraine syndrome is a rare condition, it is vital to recognize it early to improve care and prognosis for these patients, while mitigating the psychological impact of the condition on both children and parents.

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.

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

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

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.

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.

Malignant Rhabdoid Tumor of the Kidney in a Child With Xeroderma Pigmentosum: Incidence or Coincidence?

Malignant rhabdoid tumor of the kidney (MRTK) is a rare aggressive malignant rhabdoid tumor that mainly affects children. At the onset of the disease, the usual clinical manifestations are gross hematuria, abdominal pain, and abdominal distension. The prognosis remains poor. Patients with rhabdoid tumors (RT) are treated according to institutional preferences that combine surgery, radiation therapy, and chemotherapy. The authors present the rare case of a child with xeroderma pigmentosum (XP) who presented with an abdominal mass accompanied by hematuria and abdominal pain. The radiological and histological results were congruent with the MRTK. The patient received preoperative chemotherapy but unfortunately died of septic shock. This case highlights the importance of being aware of MRTK and its fatal complications, as well as the increased risk of kidney tumors in patients with XP.

Implementing the WHO Global Initiative for Childhood Cancer in Morocco: Survival study for the six indexed childhood cancers.

BACKGROUND: In 2018, the World Health Organization (WHO) launched the Global Initiative for Childhood Cancer (GICC). The goal is to achieve a global survival rate of at least 60% for all children with cancer by 2030. Morocco was designated as a pilot country for this initiative. PROCEDURE: This retrospective study included a cohort of children aged 0-15 years, with one of the six indexed cancers (acute lymphoblastic leukemia [ALL], Burkitt lymphoma [BL], Hodgkin lymphoma, retinoblastoma [RB], Wilms tumor or nephroblastoma, low-grade glioma), diagnosed between January 1, 2017 and December 31, 2019 at the six Moroccan Pediatric Hematology and Oncology units. Patients were followed-up until August 31, 2020. The Kaplan-Meier method was used to estimate survival rates, the log-rank test for comparing survival curves, and the Cox model for identifying prognostic factors. RESULTS: Data on 878 patients were included in the study. The most frequently reported cancer type was ALL (n = 383, 43.6%), followed by Wilms tumor (n = 139, 15.8%) and BL (n = 133, 15%). Most patients were less than 5 years of age (n = 446, 50.9%) and the male/female ratio was 1.46. The 1, 2, and 3-year overall survival rates were 80.1%, 73.6%, and 68.2%, respectively. In a multivariable Cox regression model, care center, cancer type, age group, and distance to the care center were statistically significantly associated to survival. Patients aged 10 years and older and patients living more than 100 km from the care center were more likely to die (respectively, HR = 1.39, p = .045 and HR = 1.44, p = .010). CONCLUSION: The reported results represent the baseline for measuring the impact of GICC implementation in Morocco.

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.

What Lies Behind the Cannonball Pulmonary Metastases: Hodgkin's Lymphoma?

The cannonball pulmonary appearance is hematogenous dissemination of various primary tumors but rarely a Hodgkin's lymphoma, a disease that most commonly manifests with lymphadenopathy, often affecting the mediastinum and supraclavicular or cervical lymph nodes. To date, to the best of our knowledge, no case has been reported where the investigation of a cannonball pulmonary appearance led to the diagnosis of Hodgkin's lymphoma. Hence, in our case report, we attempt to highlight the uncommon presentation of this disease in a 14-year-old girl who initially presented with dyspnea before her chest x-ray revealed a cannonball pulmonary appearance, which was later linked with Hodgkin's lymphoma after performing a biopsy of her axillary node.

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.

Clinical and Immunological Features of 96 Moroccan Children with SCID Phenotype: Two Decades' Experience.

Severe combined immunodeficiency (SCID) is a heterogeneous group of primary immunodeficiency diseases (PIDs) characterized by a lack of autologous T lymphocytes. This severe PID is rare, but has a higher prevalence in populations with high rates of consanguinity. The epidemiological, clinical, and immunological features of SCIDs in Moroccan patients have never been reported. The aim of this study was to provide a clinical and immunological description of SCID in Morocco and to assess changes in the care of SCID patients over time. This cross-sectional retrospective study included 96 Moroccan patients referred to the national PID reference center at Casablanca Children's Hospital for SCID over two decades, from 1998 to 2019. The case definition for this study was age < 2 years, with a clinical phenotype suggestive of SCID, and lymphopenia, with very low numbers of autologous T cells, according to the IUIS Inborn Errors of Immunity classification. Our sample included 50 male patients, and 66% of the patients were born to consanguineous parents. The median age at onset and diagnosis were 3.3 and 6.5 months, respectively. The clinical manifestations commonly observed in these patients were recurrent respiratory tract infection (82%), chronic diarrhea (69%), oral candidiasis (61%), and failure to thrive (65%). The distribution of SCID phenotypes was as follows: T-B-NK+ in 44.5%, T-B-NK- in 32%, T-B+NK- in 18.5%, and T-B+NK+ in 5%. An Omenn syndrome phenotype was observed in 15 patients. SCID was fatal in 84% in the patients in our cohort, due to the difficulties involved in obtaining urgent access to hematopoietic stem cell transplantation, which, nevertheless, saved 16% of the patients. The autosomal recessive forms of the clinical and immunological phenotypes of SCID, including the T-B-NK+ phenotype in particular, were more frequent than those in Western countries. A marked improvement in the early detection of SCID cases over the last decade was noted. Despite recent progress in SCID diagnosis, additional efforts are required, for genetic confirmation and particularly for HSCT.

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.

[Congenital factor VII deficiency: about two family cases]. / Déficit congénital en facteur VII de coagulation: à propos de deux cas familiaux.

Factor VII deficiency is rare, with an estimated prevalence rate of 1/1,000,000. It is transmitted as an autosomal recessive trait. It can cause simple nosebleeds up to cerebral hemorrhage. Our study aims to focus on the clinical features and the importance of screening in patients with this rare deficit. We report the cases of two brothers with this deficit. Child aged 8 years, born to non-consanguineous marriage who was the youngest of two children. He had a history of post-circumcision bleeding and was admitted to our Department for the treatment of recurrent nosebleeds occurred over the last 4 years. Screening tests of hemostasis showed low Prothrombin (PT), normal Activated thromboplastin time (ATT), while factor assay revealed factor VII deficiency with a rate of 26%. The patient underwent spaced fresh frozen plasma (FFP) transfusions due to nosebleeds and wounds. Family screening was not performed. The eldest brother, aged 11 years, presented with very abundant nosebleeds. Somatic examination was unremarkable. Given his history, the patient underwent factor VII assay revealing a rate of 55% and parent screening was scheduled. The diagnosis of congenital factor VII deficiency in a patient motivates family screening in order to perform screening tests in other carriers of factor VII deficiency. This would avoid severe manifestations, even fatal, considering that studies have not shown a correlation between factor VII rate and the severity of patient's status.

[Macrophage activation syndrome complicating family lymphohistiocytosis]. / Syndrome d'activation macrophagique compliquant une lymphohistiocytose familiale.

Macrophage activation syndrome (MAS) is an anatomoclinic entity due to inappropriate macrophage activation. It is a rare pathology, characterized by clinical signs that are not very specific and by biological elements. Their association must evoke the diagnosis. It can be classified as primary or secondary, its prognosis is still unclear. We report the case of a 3-year and 4-month-old infant admitted to our department with primary MAS in order to remind clinicians the importance of suspecting primary cause in specific situations.

Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds.

PURPOSE: Chronic granulomatous disease (CGD) is characterized by an inability of phagocytes to produce reactive oxygen species (ROS), which are required to kill some microorganisms. CGD patients are known to suffer from recurrent bacterial and/or fungal infections from the first year of life onwards. From 2009 to 2013, 12 cases of CGD were diagnosed in Morocco. We describe here these Moroccan cases of CGD. METHODS: We investigated the genetic, immunological and clinical features of 12 Moroccan patients with CGD from 10 unrelated kindreds. RESULTS: All patients were children suffering from recurrent bacterial and/or fungal infections. All cases displayed impaired NADPH oxidase activity in nitroblue tetrazolium (NBT), dihydrorhodamine (DHR) or 2',7' dichlorofluorescein diacetate (DCFH-DA) assays. Mutation analysis revealed the presence of four different mutations of CYBB in four kindreds, a recurrent mutation of NCF1 in three kindreds, and a new mutation of NCF2 in three patients from a single kindred. A large deletion of CYBB gene has detected in a patient. The causal mutation in the remaining one kindred was not identified. CONCLUSION: The clinical features and infectious agents found in these patients were similar to those in CGD patients from elsewhere. The results of mutation analysis differed between kindreds, revealing a high level of genetic and allelic heterogeneity among Moroccan CGD patients. The small number of patients in our cohort probably reflects a lack of awareness of physicians. Further studies on a large cohort are required to determine the incidence and prevalence of the disease, and to improve the description of the genetic and clinical features of CGD patients in Morocco.