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1.
J Paediatr Child Health ; 46(1-2): 63-5, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19943859

RESUMO

Blue Rubber Bleb Nevus Syndrome is a rare condition characterised by multiorgan venous malformations, in particular of cutaneous area and the gastrointestinal (GI) tract. We report here a child with chronic iron deficiency anaemia, melena and skin lesions. She had severe hypochromic microcytic anaemia. Upper and lower endoscopy revealed hundreds of red-bluish polypoid lesions involving the entire GI tract primarily of the small bowel. Due to localisation of the most severe lesions, the patient responded well to surgical treatment, allowing a sustained clinical remission.


Assuntos
Hemorragia Gastrointestinal/diagnóstico , Intestino Delgado/fisiopatologia , Nevo Azul/patologia , Neoplasias Cutâneas/fisiopatologia , Criança , Feminino , Hemorragia Gastrointestinal/tratamento farmacológico , Hemorragia Gastrointestinal/fisiopatologia , Humanos , Nevo Azul/tratamento farmacológico
2.
World J Gastroenterol ; 26(4): 416-423, 2020 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-32063690

RESUMO

BACKGROUND: Incidence and severity variations of inflammatory bowel disease (IBD) have been reported from Western populations between continents and regions of the same countries. However, no data were available from other countries. AIM: To investigate the regional differences in the IBD profiles of pediatric patients from the Kingdom of Saudi Arabia. METHODS: Data from a national multicenter IBD study were used. The incidence, time trend, and clinical presentation of Crohn's disease (CD) and ulcerative colitis (UC) in the Central region (CR), Western region (WR), and Eastern region (ER) were analyzed and compared. Statistical analysis included Poisson regression analysis for incidence variation and Chi-square test for demographic and clinical parameters. A P < 0.05 was considered significant. RESULTS: The prevalence of positive family history was lower in children with CD from the ER than the CR or the WR. Consanguinity rate was higher in children with CD and UC from the CR and the ER, respectively. The incidences and time trends of CD and UC were not significantly different between regions. In the ER, a significantly higher percentage of children with CD presented with abdominal pain (P < 0.001), blood in stools (P = 0.048), stricturing or penetrating disease (P = 0.029), higher erythrocyte sedimentation rate (P < 0.001), higher C-reactive protein (P < 0.001), higher anemia (P = 0.017), and lower albumin level (P = 0.014). For children with UC from the ER, a significantly higher percentage presented with anemia (P = 0.006) and a lower percentage with pancolitis (P < 0.001). CONCLUSION: The most important finding is the identification of significantly more severe presentation of CD in the ER of the Kingdom of Saudi Arabia. Prospective studies are needed to explain such variations.


Assuntos
Colite Ulcerativa/epidemiologia , Doença de Crohn/epidemiologia , Adolescente , Distribuição de Qui-Quadrado , Criança , Pré-Escolar , Feminino , Geografia , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Distribuição de Poisson , Prevalência , Estudos Retrospectivos , Arábia Saudita/epidemiologia
3.
Saudi J Gastroenterol ; 25(4): 257-261, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30971589

RESUMO

BACKGROUND/AIM: Delay in the diagnosis of inflammatory bowel disease (IBD) is associated with complications. Our aim was to describe the pattern and risk factors associated with delay in the diagnosis of IBD in Saudi children. PATIENTS AND METHODS: This was a multicenter study with a retrospective/prospective design. Data on diagnostic delay in children with Crohn's disease (CD) and ulcerative colitis (UC) were retrieved from physician's notes. Multivariate regression analysis was used to assess the risk factors associated with long delay in diagnosis. RESULTS: There were 240 and 183 Saudi children with CD and UC, respectively. The median delays in diagnosis were 8 and 5 months in CD and UC, respectively, significantly longer in children with CD than UC (P < 0.001). Long diagnostic delays (>75th percentile) were 24 and 8.8 months for CD and UC, respectively. Ileal location was a significant risk factor in CD and the age of onset above 10 years was protective in UC. CONCLUSIONS: Long diagnostic delay in IBD was mainly due to the longer delay in gastroenterologist consultation. Review of the referral system is needed to focus on measures to reduce long delays in diagnosis. The ileal location as a risk factor in CD and age older than 10 years as protective in UC should help recognition and early referral.


Assuntos
Diagnóstico Tardio/estatística & dados numéricos , Diagnóstico por Imagem/métodos , Endoscopia Gastrointestinal/métodos , Doenças Inflamatórias Intestinais/diagnóstico , Medição de Risco/métodos , Biópsia/métodos , Pré-Escolar , Seguimentos , Humanos , Incidência , Doenças Inflamatórias Intestinais/epidemiologia , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Arábia Saudita/epidemiologia , Fatores de Tempo
4.
Saudi J Gastroenterol ; 23(3): 206-208, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28611345

RESUMO

Neuroblastoma amplified sequence (NBAS) gene mutation or infantile liver failure syndrome type 2 (ILFS type 2) is an extremely rare disease characterized by episodic liver failure precipitated by intercurrent febrile illness, and liver function recovering completely. Here, we report a 4-year-old girl with recurrent hepatitis. A diagnosis of ILFS type 2 was made based on NBAS mutation gene found by whole-exome sequencing. Our case provides a new insight toward considering NBAS mutation as a part of the differential diagnoses of any infant presenting with recurrent liver failure or hepatitis. We recommend sequencing NBAS in cases of recurrent hepatitis in infancy of unknown cause, especially in individuals with fever-associated hepatic dysfunction.


Assuntos
Hepatite/diagnóstico , Hepatite/genética , Falência Hepática/diagnóstico , Falência Hepática/genética , Mutação , Proteínas de Neoplasias/genética , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Falência Hepática/patologia , Proteínas de Neoplasias/deficiência , Doenças Raras , Recidiva , Sequenciamento do Exoma/métodos
5.
J Clin Diagn Res ; 10(6): SD01-2, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27504369

RESUMO

Autoimmune pancreatitis (AIP) is a rare entity in the paediatric population and its aetiology is unknown. Here, we report a 10-year-old girl with recurrent abdominal pain. A diagnosis of AIP was made based on elevated pancreatic enzymes, elevated IgG 4 and image findings. She responded to corticosteroid treatment. AIP should be considered in the differential diagnosis of recurrent pancreatitis. Correct diagnosis can help avert the consequences of progressive disease and unnecessary surgery.

7.
Saudi J Gastroenterol ; 20(6): 385-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25434322

RESUMO

Sclerosing mesenteritis (SM) is a rare, benign inflammatory disorder of unknown etiology, affecting the membranes of the digestive tract that involves lymphoplasmacytic inflammation, fat necrosis, and fibrosis of the mesentery. We report a child patient with a history of recurrent abdominal pain and fever who was found to have an intra-abdominal mass suspicious for malignancy. A tissue biopsy revealed the diagnosis of SM associated with IgG4-related systemic disease. The patient is currently maintained on 5 mg prednisone daily and no recurrence of symptoms was noted during the 24-month follow-up period. We emphasize, therefore, that SM can present clinical challenges and the presence of SM should cue clinicians to search for other coexisting autoimmune disorders that can have various outcomes.


Assuntos
Anticorpos Anti-Idiotípicos/imunologia , Imunoglobulina G/sangue , Paniculite Peritoneal/imunologia , Anticorpos Anti-Idiotípicos/sangue , Biópsia , Criança , Diagnóstico Diferencial , Feminino , Humanos , Imunoglobulina G/imunologia , Paniculite Peritoneal/sangue , Paniculite Peritoneal/diagnóstico , Arábia Saudita , Tomografia Computadorizada por Raios X
8.
Saudi J Gastroenterol ; 18(3): 217-20, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22626803

RESUMO

Hepatitis B virus (HBV) infection is a worldwide health problem. Consensus guidelines for the treatment of chronic HBV in children have not been established, and indications for antiviral therapy in adults with chronic HBV infection may not be applicable to children. The medications that are Food and Drug Administration approved for the treatment of children with HBV include interferon (IFN)-alpha and lamivudine. Nondetectable serum HBV deoxyribonucleic acid, Hepatitis B envelope antigen (HBeAg) loss, and HBeAg seroconversion following 1 year duration of entecavir treatment. A review of the literature of entecavir treatment of chronic hepatitis B in children is also provided.


Assuntos
Antivirais/uso terapêutico , Guanina/análogos & derivados , Antígenos E da Hepatite B/imunologia , Hepatite B Crônica/tratamento farmacológico , Hepatite B Crônica/imunologia , Criança , Guanina/uso terapêutico , Humanos , Testes de Função Hepática , Masculino
9.
Saudi J Gastroenterol ; 18(3): 208-13, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22626801

RESUMO

BACKGROUND/AIM: Cytomegalovirus (CMV) is the most common congenital viral infection, occurring in 0.4%-2.3% of all live births. The clinical manifestations of CMV are multiorgan involvement. Currently, the numbers of studies of hepatic CMV infection in immunocompetent infants are insufficient and little information exists in the medical literature about the hepatic manifestations and complications of CMV. PATIENTS AND METHODS: Nine infants diagnosed with hepatic CMV infection were included in the study. The diagnosis was based on the presence of IgM anti-CMV antibodies titer in serum and detection of CMV-DNA in blood. The authors identified clinical characteristics, biochemical characteristics, immunologic markers, and the outcome of hepatic CMV with or without treatment. RESULTS: Jaundice was the most common clinical feature of CMV infection in infancy (100%). Hepatic abnormalities in the form of cholestasis (defined as a serum conjugated bilirubin concentration greater than 17.1 µmol/L or greater than 20% of the total serum bilirubin) were found in all patients (100%), hepatitis (77%), hypoalbuminemia (55%), elevated alkaline phosphatase, and gamma-glutamyltransferase (77%). Other findings showed hepatosplenomegaly (44%), thrombocytopenia (22%) and low birth weight (11%) The treatment of hepatic CMV infection was indicated in 66% and was not indicated in 33%. Both of them had resolved cholestasis and hepatitis. CONCLUSION: Jaundice and cholestasis were the most common clinical features of hepatic CMV infections. Hepatic CMV infection in young infants is often a self-limited illness that does not require antiviral therapy. Most of the patients with hepatic CMV infection had a favorable outcome.


Assuntos
Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/epidemiologia , Hepatite Viral Humana/congênito , Hepatite Viral Humana/epidemiologia , Hepatite Viral Humana/virologia , Doenças do Recém-Nascido/epidemiologia , Doenças do Recém-Nascido/virologia , Complicações Infecciosas na Gravidez/epidemiologia , Complicações Infecciosas na Gravidez/virologia , Antivirais/uso terapêutico , Biomarcadores/análise , Colagogos e Coleréticos/uso terapêutico , Infecções por Citomegalovirus/terapia , Feminino , Hepatite Viral Humana/terapia , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/terapia , Testes de Função Hepática , Masculino , Reação em Cadeia da Polimerase , Gravidez , Estudos Retrospectivos , Arábia Saudita/epidemiologia , Resultado do Tratamento , Ácido Ursodesoxicólico/uso terapêutico
10.
J Clin Diagn Res ; 10(3): SJ01, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27134960
11.
Saudi J Gastroenterol ; 17(2): 119-23, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21372349

RESUMO

BACKGROUND/AIM: Eosinophilic esophagitis (EE) is a clinicopathologic entity characterized by esophageal symptoms in association with a dense eosinophilic infiltrate currently defined as >15 eosinophils per high power field in the appropriate clinical context. This is the first pediatric study in Saudi Arabia to give the experience with EE and examine its symptom, histology and endoscopy results. MATERIALS AND METHODS: Retrospective chart review of all patients diagnosed with EE at National Guard Hospital, Jeddah Between 2007 and 2009. The authors identified EE on histologic criteria (≥15 eosinophils per high-power field) together with their clinical context. The authors reviewed medical records for details of clinical presentation, laboratory data, radiologic, endoscopic, and histologic findings, and the results of treatment. RESULTS: We identified 15 patients in our database in the last three years. 100% of the patients were males. The median age at presentation was 10 years (range, 3-17 years). The commonly reported symptoms were failure to thrive (86%), epigastric abdominal pain (53%), poor eating (40%), dysphagia with solid food (26%), food impaction (13%), and vomiting (20%). Asthma was reported in 46% and allergic rhinitis in 40%. Peripheral eosinophilia (>0.7 Χ 10/l) was found in 66%. High serum IgE Level (>60 IU/ml) was found in 60%. Upper endoscopic analysis revealed esophageal trachealization in 46%, esophageal erythema in 46%, white specks on the esophageal mucosa in 33%, esophageal narrowing in 13%, and normal endoscopy in 13%. The mean eosinophils per high-power field was 30.4 (range, 20-71). Histologic characteristics included degranulated eosinophils (86%), basal cell hyperplasia (93%) and eosinophils clusters (micro-abscess) in 73%. The treatment of EE revealed that they used swallowed corticosteroid in 50%, proton pump inhibitors in 66%, elemental diet/ food elimination in 13% and systemic corticosteroid in 13%. CONCLUSIONS: Failure to thrive and abdominal pain in a male, atopic school-aged child was the most common feature of EE. Peripheral eosinophilia, high serum IgE and endoscopic esophageal erythema and trachealization should significantly raise the clinical index of suspicion for the diagnosis of EE.


Assuntos
Endoscopia , Esofagite Eosinofílica/diagnóstico , Esofagite Eosinofílica/terapia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Estudos de Coortes , Esofagite Eosinofílica/complicações , Feminino , Humanos , Contagem de Leucócitos , Masculino , Estudos Retrospectivos , Fatores de Risco , Arábia Saudita , Fatores Sexuais
12.
Saudi Med J ; 31(10): 1169-71, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20953537

RESUMO

Abetalipoproteinemia (ABL) is characterized by acanthocytosis, hypocholesterolemia, and steatorrhea. Here, we describe a case of ABL associated with rickets and dysmorphic findings and the subsequent therapeutic course in an 18-month-old male referred for evaluation for failure to thrive and chronic fatty diarrhea. Examination revealed a pale child, dysmorphic face, and signs of rickets. Laboratory examination revealed low hemoglobin (3.7 gm/dl), low albumin (28 gm/L), low cholesterol and triglyceride levels. The blood smear showed acanthocytes while the small bowel histology showed the enterocytes were distended with lipid droplets. He was diagnosed with ABL and treated with fat-soluble vitamins (ADEK), and hydrolyzed protein formula containing medium chain triglycerides. Three months later, his fatty diarrhea becomes normal stool, his serum fat-soluble vitamins normalized, and his weight increased from 4.1 kg to 5.9 kg.


Assuntos
Abetalipoproteinemia/complicações , Raquitismo/complicações , Abetalipoproteinemia/patologia , Humanos , Lactente , Masculino , Raquitismo/patologia
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