ABSTRACT
Background: Wilson Disease (WD) is an autosomal recessive inherited metabolic disease caused by mutations in the ATP7B gene. WD is characterized by heterogeneous clinical presentations expressed by hepatic and neuropsychiatric phenotypes. The disease is difficult to diagnose, and misdiagnosed cases are commonly seen. Methods: In this study, the presented symptoms of WD, the biochemical parameters as well as its natural history are described based on cases collected in Mohammed VI Hospital University of Marrakech (Morocco). We screened and sequenced 21 exons of ATP7B gene from 12 WD patients that confirmed through biochemical diagnosis. Results: Mutational assessment of the ATP7B gene showed six homozygous mutations in 12 individuals however, 2 patients had no evidence of any mutation in promoter and exonic regions. All mutations are pathogenic and most were missense mutations. c.2507G > A (p.G836E), c.3694A > C (p.T1232P) and c.3310 T > C (p.C1104R) that were identified in 4 patients. The other mutations were a non-sense mutation (c.865C > T (p.C1104R)) detected in 2 patients, a splice mutation (c.51 + 4A > T) detected in 2 patients and a frameshift mutation (c.1746 dup (p.E583Rfs*25) detected in 2 patients. Conclusion: Our study is the first molecular analysis in Moroccan patients with Wilson's disease, the ATP7B mutational spectrum in the Moroccan population is diverse and still unexplored.
ABSTRACT
Background: The world is currently facing a pandemic due to a new species of the Coronaviridae family called SARS-CoV-2, discovered in the city of Wuhan in China in December 2019. The WHO has named the resulting disease COVID-19 (Coronavirus Disease 2019). It has been a global health problem due to its major socio-economic damage. The aim of this study was to show the prevalence of gastrointestinal and hepatic manifestations in symptomatic children with COVID-19. Methods: We performed a retrospective study, including 36 symptomatic children infected by SARS-CoV-2 hospitalized at the mother and child hospital of university hospital of Mohammed VI, Marrakech in Morocco, over a period of 7 months. Clinical and biological manifestations of the digestive system were evaluated for all patients. Results: The digestive symptomatology came in second place after the respiratory manifestations. 14 patients (38.89 % of symptomatic patients) in our study had digestive symptoms on admission: 12 (33.33%) presented with diarrhea, 4 (11.11%) had abdominal pain and only one child (2.78%) had vomiting. Aspartate aminotransferase (AST) was elevated in one patient, while alanine transaminase (ALT) was elevated in 6 patients. The prothrombin level was normal in all patients. All patients were discharged with good general condition without morbidity and mortality. Conclusion: This study concludes with the high prevalence of digestive manifestations of COVID-19 in symptomatic children. There were no severe clinical or biological abnormalities in our study. Digestive manifestations during COVID-19 in children are frequent, which requires the awareness of health professionals.
Subject(s)
COVID-19 , Gastrointestinal Diseases , Child , Humans , COVID-19/epidemiology , SARS-CoV-2 , Retrospective Studies , Gastrointestinal Diseases/epidemiology , Gastrointestinal Diseases/diagnosis , Vomiting/epidemiology , Vomiting/etiologyABSTRACT
Scabies is very common among children. It is often a harmless infectious disease, responding well to antiparasitic medication. Nevertheless, severe forms can occur in immunocompromised populations like newborns and infants. We report a unique case of scabies in a three-months-old infant, complicated by generalized cutaneous lymphocytic vasculitis and unilateral acral necroses.
Subject(s)
Scabies/diagnosis , Vasculitis/diagnosis , Humans , Immunocompromised Host , Infant , Lymphocytes/pathology , Male , Necrosis/pathology , Vasculitis/parasitology , Vasculitis/physiopathologySubject(s)
Antineoplastic Agents/therapeutic use , Everolimus/therapeutic use , Hemangioma/drug therapy , Kasabach-Merritt Syndrome/complications , Skin Neoplasms/drug therapy , Hemangioma/etiology , Hemangioma/pathology , Humans , Infant , Male , Prognosis , Skin Neoplasms/etiology , Skin Neoplasms/pathologyABSTRACT
A 19-month-old boy presented to our department with ulcerated plaque on the right lumbar region. The lesion was known to have been growing for about 5 months. At another center 9 months prior to presenting to our department, the patient's parents reported a history of cutaneous nodules from the same lumbar region. Their total excision was performed, and the pathology report stated that it was infantile calcifying fibromatosis or nodular fasciitis. The patient was healthy with a nonsignificant, medical history including no use of medications, no known drug allergies, and no significant family history of disease.
