Previously Unreported Esophageal Lymphoid Polyp in a Child: A Case Report with Histopathology.

Introduction: Benign esophageal tumors are uncommon; most are detected by chance upon endoscopy. Lymphoid polyps, like those of the small and large intestine, have not been reported to occur in the esophagus. We describe an esophageal benign lymphoid polyp. Case Report: A 7.5-year-old girl was referred with dysphagia. Upper endoscopy demonstrated and removed a single small pedunculated polyp in the upper third of the esophagus. The polyp consisted of two hyperplastic lymphoid aggregates in the lamina propria covered by stratified non-keratinizing squamous epithelium. Discussion: Esophageal polyps may be produced by hyperplastic lymphoid tissue and may be a cause of dysphagia.

The relationship between nutritional facts and temperament of selected Iranians' frequent food items: a summative content analysis study.

Introduction: Dietary intake is considered as a major determinant factor in health maintenance as well as primary and secondary prevention of diseases. The knowledge on the relationship between food nutritional facts and their temperament (Mizaj) can be helpful in the integrative Iranian medicine and modern nutrition approach to individualized diet planning. Material and methods: This study was carried out in three phases using a summative content analysis method: 1) Extraction of the Iranians' frequent food items through an academic discussion panel of nutritionists and MDs, PhDs of Iranian medicine; 2) Determination of the extracted food items' temperament and nutritional facts; 3) Statistical analysis of the extracted data using SPSS software. Results: Foods with warm temperament had higher mean levels of energy and polyunsaturated fatty acids as well as iron, zinc, and manganese. On the other hand, the mean values of total fatty acids, cholesterol, vitamin B12, and retinol were significantly higher in wet temperament foods. Additionally, the dryness of food items had a positive significant association with total carbohydrates, fiber, vitamin B6, calcium, iron, magnesium, potassium, copper, and manganese. Finally, wet foods had higher amounts of moisture and vitamin A. Conclusions: The results of the present study revealed that warmness of food items is associated with higher amounts of macronutrients as well as cell growth and proliferation related micronutrients. Moreover, foods with dry temperament had higher amounts of minerals. Further studies, especially food analytical studies, are required to validate the accuracy of aforementioned findings.

Previously Unreported Pseudomembranous Duodenitis: A Case Report With Histopathology.

The pseudomembranous inflammatory process is a process characterized by the formation of a white membrane-like exudate over colonic mucosa and is mainly caused by Clostridium difficile toxin. The stool culture is considered to be the gold standard and is technically challenging and is not performed routinely. There are some reports of duodenitis and proximal jejunitis in horses attributed to Clostridium difficile infection. Hereby, we report a case of pseudomembranous duodenitis in a seven-year-old boy with a complaint of severe abdominal pain. Upper endoscopy revealed patchy ulceration and a white membrane in the duodenum. A biopsy was taken with the impression of a fungal infection. The histological study revealed crater-like ulceration with upward exudation of mucus consistent with the pseudomembranous inflammatory process. To the best of our knowledge, pseudomembranous duodenitis is not reported in the human as yet.

Vascular Changes in Eosinophilic Esophagitis (EOE), Report of an Unusual Case.

Background: Submucosal or lamina propria arteries are not often included in esophageal biopsies. We report an esophageal biopsy with eosinophilic esophagitis (EOE) overlying small arteries with medial hypertrophy to the point of obstruction. Case presentation: A two-year-old boy with a 1-year history of asthma frequently vomited after coughing. Esophageal biopsy showed EOE. Within the lamina propria there were small arteries with markedly thickened media to the point of luminal obstruction next to a hyperplastic lymphoid aggregate. There was no significant inflammatory infiltrate in the arterial walls. Subsequent biopsies did not show these vascular changes. Conclusion: Small artery changes in EOE have not previously been reported, and although the significance is unknown, in this case may be incidental to eosinophilic esophagitis.

Pistacia atlantica Desf. A review of its traditional uses, phytochemicals and pharmacology.

Pistacia atlantica is the main herbal medicine that has been widely used in the Middle Eastern and Mediterranean areas since ancient time. Pistacia atlantica has been used for multiple purposes like stomach diseases, renal disorders, wounds and coughs. The aim of this study is to review its botanical characterization, traditional applications, photochemistry effects and pharmacological activities. Data in this review article was gathered from credible pharmacopeias, electronic databases such as Web of Science, Science Direct, PubMed, EMBASE, Scopus, EBSCO, Google Scholar, SID and Iran Medex and textbooks of Persian medicine such as Canon of medicine (Ibn-e Sina, 980-1037 AD) and Makhzan-al-Advia (Aghili, 18th century). The keywords were searched in Persian and English books on medicinal plants and traditional medicine. The results showed that P. atlantica has many medicinal properties such as antioxidant, antidiabetic, antihyperlipidemic, along with others. It can also be effective in gastrointestinal diseases. Thus, different new drugs can be formulated based on P. atlantica for the management of various diseases.

Effect of Pistacia atlantica kurdica gum on diabetic gastroparesis symptoms: a randomized, triple-blind placebo-controlled clinical trial.

BACKGROUND: Gastroparesis is a recognized problem of type 1 and 2 diabetes mellitus that is defined by delayed gastric emptying. Due to insufficient satisfaction of current treatments, the use of complementary and alternative medicine in this field seems essential. According to Persian medicine, Pistacia atlantica gum has proper effect on gastrointestinal disorder specially stomach diseases. OBJECTIVE: The aim of this study was to assess the effect of Pistacia atlantica gum on diabetic gastroparesis symptoms. METHODS: A triple-blind randomized placebo-controlled trial on subjects with diabetic gastroparesis was conducted at the clinic of Imam Reza Hospital in Mashhad city in Iran, from November 2016 to May 2017. Fifty-four patients (16.7% males and 83.3% females) enrolled in the 8-week study and were randomly divided into two groups of intervention Pistacia atlantica and placebo groups. Both of the groups had received current dietary advice. Severity of gastroparesis symptoms was assessed with a Gastroparesis cardinal symptom index (GCSI) questionnaire. SPSS software version 16 was used to analyze the data and Generalized Estimating Equation (GEE) model, Independent-samples t-test, Paired-samples t-test, Mann-Whitney U test, and Wilcoxon signed-rank test were used to assess variables. RESULTS: All gastroparesis symptoms of patients (14.6% diabetes type 1 and 85.4% diabetes type 2) including nausea/vomiting, postprandial fullness/early satiety, and bloating were significantly declined in each group during study (p<0.0001). Pistacia atlantica gum significantly reduced severity of gastroparesis symptoms including Postprandial fullness/early satiety (p=0.04), Bloating (p<0.0001), and GCSI scores (p=0.001) versus placebo. Systolic blood pressure (p=0.006), BMI (p=0.018), and HbA1c (p=0.038) significantly decreased in the Pistacia atlantica group after the intervention. CONCLUSION: This study showed that daily consumption of Pistacia atlantica gum for one month improves diabetic gastroparesis symptoms. TRIAL REGISTRATION: The trial was registered at the Iranian Registry of Clinical Trials (http://www.irct.ir) with the code of IRCT2016110630739N1. FUNDING: This study was supported by funding (grant no.: 950153) from the Mashhad University of Medical Sciences Research Council, Mashhad, Iran.

Application of Human Acellular Breast Dermal Matrix (ABDM) in Implant-Based Breast Reconstruction: An Experimental Study.

BACKGROUND: The use of acellular dermal matrices (ABDM) has become more common for breast reconstruction to improve postoperative outcomes. We evaluated the efficacy of breast reconstruction by the application of human ABDM in a sheep model. METHODS: The sheep in group I (GI) (N = 4) underwent the following procedures on the right side: (1) breast reconstruction using human ABDM after total mastectomy, (2) human ABDM under the skin, near the breast area and on the left side, (3) fat injection and human ABDM after partial mastectomy, and (4) replacement of ABDM in the abdominal wall far from the breast. Sheep in group II (GII) (N = 4) underwent the following procedures. On the right side: (1) breast reconstruction using ABDM after total mastectomy, (2) replacement of ABDM under the skin, near the breast area, and on the left side, (3) application of vicryl synthetic mesh after partial mastectomy and (4) replacement of mesh under the skin, near the breast area. RESULTS: Histological evaluations of decellularized skin scaffolds demonstrated a collagen-based matrix with preserved ECM and complete nuclear removal. Histological evaluations of implanted ABDM demonstrated a viable matrix with fibroblast infiltration and revascularization in all follow-ups. The overall surgical complication rate was significantly lower in the ABDM implant under the skin and near the breast in both short- and long-term follow-ups. CONCLUSION: The results of this study demonstrated that the application of novel prepared ABDMs has promising outcomes for breast reconstruction to provide total coverage without the need for breast expansion before implant placement. NO LEVEL ASSIGNED: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors http://www.springer.com/00266.

Are Traditional Remedies Useful in Management of Fibromyalgia and Chronic Fatigue Syndrome? A Review Study.

Fibromyalgia and chronic fatigue syndrome are disorders that often occur simultaneously and are characterized by widespread pain and persistent fatigue. The patients are associated with disability and impairment social and physical functions. There are many remedies in traditional Persian medicine suggested for management of the disease complaints. The aim of this study was to investigate the clinical presentations and pathophysiology of disorders with the basic and principal textbook of traditional Persian medicine written by Avicenna ( Canon of Medicine). According to Persian medicine, the term E'aya can be matched by mentioned disorders. Avicenna believed that strenuous activities play an important role in the beginning of some types of fatigue. He classified fatigue into 4 groups, and in each type the clinical symptoms varied. The multifaceted entity of fibromyalgia and chronic fatigue syndrome in Persian medicine and conventional medicine suggests multidisciplinary therapies in management of these disabling disorders.

The role of outer inflammatory protein A (OipA) in vaccination of theC57BL/6 mouse model infected by Helicobacter pylori.

BACKGROUND/AIM: Outer inflammatory protein A (OipA) is an important adhesin of Helicobacter pylori. Our goal was to assess the role of OipA in protection of C57BL/6 mice against H. pylori. MATERIALS AND METHODS: C57BL/6 mice were mucosally immunized with recombinant OipA protein, OipA + propolis, propolis, and phosphate-buffered saline. After vaccination, anti-OipA IgA was measured. Mice were challenged three times with 5 × 107 CFU of the H. pylori B19 strain. Two weeks later, bacterial colonization and inflammation in the stomach was analyzed using standard methods. RESULTS: The CFU number in the OipA group was significantly (P < 0.05) lower than that of the control. The CFU number in the OipA + propolis group was higher than those of the OipA and propolis groups. IgA titers were significantly higher (P 6lt; 0.0001) in the OipA group compared to the control and OipA + propolis groups. Propolis did not play an adjuvant effect but it interfered with the efficient vaccine effect of OipA. CONCLUSION: Results show the effect of vaccination by OipA in protection of the mouse model and the importance of OipA in H. pylori pathogenesis. OipA may be proposed as a suitable oral vaccine candidate against H. pylori infection; however, further study is required to determine adjuvant or adverse effects of propolis toward OipA.

Validity of Selected WBC Differentiation Flags in Sysmex XT-1800i.

BACKGROUND: Automatic Cell Counter devises make the CBC differential very easy and delivering the results in few second. However, the problem with this device is facing a flag requires a time-consuming microscopic review of the specimen which causes unacceptable wait times for patient as well as costs for laboratories. In this study, we calculated the validity of WBC diff flags in Sysmex XT-1800i. In addition, we verified the correlation between manual and automated samples. METHODS: Overall, 1095 flagged samples were selected in the period of 6 weeks (Imam Hospital complex, Tehran Iran, 2014). The results of both automated and manual counting of the samples were carefully studied and compared. Totally, 624 NRBC flags, 450 Blast flags, 155 abnormal WBC Scatter gram flags, 140 Eosinophilia flags and 468 Monocytosis flags were identified. RESULTS: Considering NRBC and blast flags there was a significant difference between our manual counted and automated counted NRBCs and blasts (P<0.05). There was no significant difference between automated and manual counting of flags for WBC Scatter gram. A significant difference between automated and manual counting data in flags, eosinophilia and monocytosis was foun (P<0.05). CONCLUSION: We propose the NRBC flags to be ignored and report negative except for the neonatal ward, and the Blasts flags to be ignored and report negative in all the cases. The WBC Scatter gram should be report positive. For eosinophilia and monocytosis flags, we propose, the Sysmex results should be considered correct and the manual checking would not be necessary.

Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report.

Hypermethioninemia may be benign, present as a nonspecific sign of nongenetic conditions such as liver failure and prematurity, or a severe, progressive inborn error of metabolism. Genetic causes of hypermethioninemia include mitochondrial depletion syndromes caused by mutations in the MPV17 and DGUOK genes and deficiencies of cystathionine ß-synthase, methionine adenosyltransferase types I and III, glycine N-methyltransferase, S-adenosylhomocysteine hydrolase, citrin, fumarylacetoacetate hydrolase, and adenosine kinase. Here we present a 3-year old girl with a history of poor feeding, irritability, respiratory infections, cholestasis, congenital heart disease, neurodevelopmental delay, hypotonia, sparse hair, facial dysmorphisms, liver dysfunction, severe hypermethioninemia and mild homocystinemia. Genetic analysis of the adenosine kinase (ADK) gene revealed a previously unreported variant (c.479-480 GA>TG) resulting in a stop codon (p.E160X) in ADK. A methionine-restricted diet normalized the liver function test results and improved her hypotonia.

Introducing a new histologic scoring system for iron deposition in liver of thalassemic patients, compared with atomic absorption spectrometry.

Iron deposition in liver is a major finding in thalassemic patients and because of direct iron toxicity to liver it is associated with several consequences for example liver fibrosis. Liver biopsies from 63 patients were evaluated, 40 (63.5%) were male and 20 (36.5%) were female. The mean age of the patients was 8.01 ± 3.7 and the age range was from 1.8 to 15 years. Histologic grading and staging was performed for each case according to modified HAI (Hepatitis Activity Index) system. Iron scoring was performed according to Sindram & Marx and MTK1-3 scoring systems. The mean (SD) dry weight (dw) of liver specimens was 1.34 (0.11) mg (range 0.20 to 3.80 mg). The mean (SD) of hepatic iron concentration was 230.9 (121.2)µmol/g dry weight. The relationship between the variables HIC, HII (hepatic iron index) and all histological gradings of iron (S&M and MTK1-3) was very strong. The relationship between the HIC and staging by HAI method was good. Significant differences were identified between the mean HIC in scores 1&2 of all histological iron scorings (S&M and MTK1-3), but no significant differences identified between mean HIC in other adjacent scores in all histological iron scorings (S&M and MTK1, 2 and 3). New scoring system introduced by us in this study which considered size and density of iron granules as well as zone of iron deposition was very much the same as simple Sindram and Marx classification.

Analysis of vacA/cagA genotypes/status in Helicobacter pylori isolates from Iranian children and their association with clinical outcome.

BACKGROUND/AIM: More than 50% of Iranian children are infected with Helicobacterpylori; however, no data exist about the association of vacA/cagA genotype/status with disease outcomes in them. We analyzed association of vacA/cagA genotypes/status of children's isolates with gastric inflammation status as the first step in H. pylori pathogenesis. MATERIALS AND METHODS: Antral biopsies for culture and histopathology were taken from 328 children in 1997-2009. vacA (s, m) alleles and cagA statuses of the isolates were determined by PCR. Histopathology was performed according to the Sydney system; gastritis was scored as normal, mild, moderate, severe, and follicular. RESULTS: A total of 159 culture-positive cases, with no mixed infections, were enrolled in the study. Of them, 60% were cagA-positive; 21.4%, 37.1%, 16.3%, and 25.2% cases were slm1, slm2, s2m1, and s2m2, respectively. Histopathology showed normal (4.4%), mild- chronic (31.4%), moderate-chronic (38.4%), severe-chronic (10.7%), and follicular gastritis (15.1%) cases. Thirty-four (21.4%) of the children had ulcers. Correlation (P < 0.05) was observed between more severe (moderate, severe, follicular) status and both vacAs1 allele and cagA-positive status. No significant relation was observed between genotype/status of vacA/cagA and ulcers (P > 0.05). CONCLUSION: vacAs1 and cagA are associated with more severe gastric inflammation in Iranian children. Association ofvacAs1 and cagA with more severe pathology in Iran may be similar to that of other parts of the world.

Mast cell density in cardio-esophageal mucosa.

Mast cells are related to certain gastrointestinal complaints. Mast cell density has not been studied in cardio-esophageal region to the best of our knowledge. In this study we wanted to obtain an estimate of mast cell density in this region and compare it with mast cell density in antrum. From April 2007 till March 2010, we chose children (<14 years old) who underwent upper endoscopy and from whom the taken biopsy was stated to be from lower third of esophagus, but in microscopic examination either cardio- esophageal mucosa or only cardiac mucosa was seen. Mast cells were counted by Giemsa stain at × 1000 magnification in 10 fields. 71 children (<14 years old) were included in this study of which, 63.4% (n=45) were female and 36.6% (n=26) were male. The mean age of patients was 7.20 ± 4.21 years (range: 0.2 -14 years). The most common clinical manifestations were recurrent abdominal pain (64.8%) and vomiting (23.9%) followed by symptoms of gastro-esophageal reflux disorder, poor weight gain, hematemesis and dysphagia. The mean mast cell density in the cardiac mucosa was 33.41 ± 32.75 in 0.25 mm2 (range: 0-155), which was two times of that in antral mucosa. We found a significant but weak positive correlation at the 0.05 level between mast cell density of cardiac mucosa and the antrum. Higher mast cell counts were seen in cardiac mucosa in this study. Significant positive correlation between mast cell density of cardiac mucosa and the antrum could hint to a single underlying etiology for the inflammatory process in gastro- esophageal junction and gastric mucosa.

An unusual cause of protein losing enteropathy in a 2.5-year-old girl: meso-intestinal fibrosis.

Introduction Protein losing enteropathy is a symptom characterized by loss of protein in intestines resulting in low protein levels in serum and generalized edema. Several causes are reported for this condition. Hereby we report an as yet unreported cause of protein losing enteropathy that we named meso-intestinal fibrosis. Case Report A 2.5-year-old girl referred with features of partial intestinal obstruction and underwent laparotomy. She had history of protein losing enteropathy since 16 months of age with generalized edema and received albumin every other week. Workup of protein losing enteropathy was inconclusive and only a histology report denoted increase in eosinophils in lamina propria of small intestine and hypoallergenic diet was started for her, but no significant response was noted. Laparotomy revealed lace-like white areas in meso of small intestine and intestinal wall was firm in palpation in some areas. Biopsy was taken from these sites and histology revealed severe fibrosis of meso overlying muscularis propria and also patchy fibrosis of intestinal meso led to severe lymphangiectasis in submucosa of small intestine. Discussion Secondary lymphangiectasis due to obstruction of lymphatic flow is mentioned as cause of protein losing enteropathy. Meso-intestinal fibrosis seen in this case that led to secondary lymphangiectasis and also motility disorder has not been reported as yet.

Analysis of Genomic Diversity among Helicobacter pylori Strains Isolated from Iranian Children by Pulsed Field Gel Electrophoresis.

OBJECTIVE: Presence of genomic diversity among Helicobacter pylori (H. pylori) strains have been suggested by numerous investigators. Little is known about diversity of H. pylori strains isolated from Iranian children and their association with virulence of the strains. Our purpose was to assess the degree of genomic diversity among H. pylori strains isolated from Iranian-children, on the basis of vacA genotype, cagA status of the strains, sex, age as well as the pathological status of the patients. METHODS: Genomic DNA from 44 unrelated H. pylori strains isolated during 1997-2009, was examined by pulse-field gel electrophoresis (PFGE). Pathological status of the patients was performed according to the modified Sydney-system and genotype/status of vacA/cagA genes was determined by PCR. PFGE was performed using XbaI restriction-endonuclease and the field inversion-gel electrophoresis system. FINDINGS: No significant relationship was observed between the patterns of PFGE and the cagA/vacA status/genotype. Also no relationship was observed between age, sex, and pathological status of the children and the PFGE patterns of their isolates. Similar conclusion was obtained by Total Lab software. However, more relationship was observed between the strains isolated in the close period (1997-2009, 2001-2003, 2005-2007, and 2007-2009) and more difference was observed among those obtained in the distant periods (1997 and 2009). CONCLUSION: H. pylori strains isolated from children in Iran are extremely diverse and this diversity is not related to their virulence characteristics. Occurrence of this extreme diversity may be related to adaptation of H. pylori strains to variable living conditions during transmission between various host individuals.

Role of fecal calprotectin in differentiating between Hirschsprung's disease and functional constipation.

BACKGROUND/AIMS: Calprotectin is a 36.5 kD calcium and zinc binding protein in the S100 protein family. Fecal calprotectin levels are elevated in patients with inflammatory bowel disease and some other gastrointestinal disorders such as colorectal carcinoma. We decided to evaluate the fecal calprotectin level to see if it was able to distinguish between functional and organic causes of constipation. METHODS: Seventy-six children aged 1 to 120 months that all underwent deep rectal mucosa biopsies at Children Medical Center from November 2010 till September 2011 were recruited. Nineteen cases were diagnosed as Hirschsprung's disease and 57 of the patients had nerve ganglion cells in their biopsies. Calprotectin concentration was analyzed by the ELISA method. RESULTS: Although there was a significant difference between the median of the two groups (p=0.036), the median was not above the predetermined cutoff value of 50 µg/g. CONCLUSIONS: We propose that fecal calprotectin, using the above cutoff value, has limited value in differentiating functional constipation from Hirschsprung's disease.

Atomic Absorption Spectrometry in Wilson's Disease and Its Comparison with Other Laboratory Tests and Paraclinical Findings.

OBJECTIVE: Wilson's disease (WD) is an autosomal recessive disease with genetic abnormality on chromosome 13 causing defect in copper metabolism and increased copper concentration in liver, central nervous system and other organs, which causes different clinical manifestations. The aim of this study was to determine the sensitivity of different clinical and paraclinical tests for diagnosis of Wilson's disease. METHODS: Paraffin blocks of liver biopsy from 41 children suspicious of WD were collected. Hepatic copper concentrations were examined with atomic absorption spectrophotometry (Australian GBC, model: PAL 3000). Fifteen specimens had hepatic copper concentration (dry weight) more than 250µg/g. Clinical and laboratory data and histologic slides of liver biopsies of these 15 children were reviewed retrospectively. Liver tissue was examined for staging and grading of hepatic involvement and also stained with rubeonic acid method for copper. FINDINGS: Patients were 5-15 years old (mean age=9.3 years, standard deviation=2.6) with slight male predominance (9/15=60%). Five (33%) patients were 10 years old. Three (20%) of them were referred for icterus, 8 (54%) because of positive family history, 2 (13%) due to abdominal pain and 2 (13%) because of hepatosplenomegaly and ascites. Serum AST and ALT levels were elevated at the time of presentation in all patients. In liver biopsy, histological grade and stage was 0-8 and 0-6 respectively, 2 (13%) had cirrhosis, 1 (7%) had normal biopsy and 12 (80%) showed chronic hepatitis. Hepatic copper concentrations were between 250 and 1595 µg/g dry weight. The sensitivity of various tests were 85% for serum copper, 83% for serum ceruloplasmin, 53% for urinary copper excretion, 44% for presence of KF ring and 40% for rubeonic acid staining on liver biopsies. CONCLUSION: None of the tests stated in the article were highly sensitive for diagnosis of WD, so we suggest that diagnosis should be based on combination of family history, physical examination and different tests.

Leydig cell tumor in two brothers with congenital adrenal hyperplasia due to 11-ß hydroxylase deficiency: a case report.

Congenital adrenal 11-ß hydroxylase deficiency is a rare autosomal recessive syndrome characterized by deficient cortisol synthesis and testicular masses. It is extremely difficult to distinguish testicular tumors caused by this syndrome from Leydig cell tumors. As management for each differs, it is important to differentiate the syndromes from each other. Hereby, we present the case of two brothers affected by 11-ß hydroxylase deficiency and presenting with bilateral testicular masses. Two differential diagnoses were noticed for both patients: testicular adrenal rest tumors (TART) and Leydig cell tumor (LCT). In this study the tumors were yellow, firm, and non-tender with intra-testicular location. Histological studies showed cells in a cluster arrangement with low lipochrome pigment concentration. Tumors were unresponsive to ACTH suppression therapy, but a drop in levels of plasma testosterone and urinary 17-ketosteroids occurred after surgical treatment. Considering all above, they were finally diagnosed as having Leydig cell tumors. Both cases were managed by testis-sparing surgery.

Liver storage disease in Iran: a ten year study of liver biopsies in Children Medical Center Hospital in Tehran-Iran.

BACKGROUND: Liver storage diseases are rare biochemical and inherited diseases that affect multiorgan systems. OBJECTIVES: This study was performed to determine the rate of storage diseases and their types in liver pathology specimens of subjects who were referred to a tertiary pediatric center. PATIENTS AND METHODS: Two pathologists evaluated 2216 pathology specimens (stained with hematoxylin and eosin and periodic acid-Schiff) from subjects who were referred to the largest pediatric tertiary referral center in Iran between 1996 and 2007. Baseline data and clinical and laboratory manifestations were retrieved from the patients' files. RESULTS: We identified 117 patients who had storage diseases. A combination of clinical and laboratory findings was used to assess the final diagnosis. Glycogen storage disease (GSD) was observed in 85 of cases, compared with lysosomal storage diseases (LSD) in 31 patients and mucopolysaccharidoses in 1 case. LSD was more prevalent in those aged between 1 month and 1 year, whereas GSD was more frequent in those aged between 1 and 6 years. Most of the patients aged between 1 and 6 years. Most patients with LSD and GSD had unknown types of the disease. The most common known types in the LSD and GSD groups were Niemann-Pick disease and GSD type I respectively. The most common clinical and laboratory manifestation was hepatomegaly and abnormal liver enzymes, respectively. CONCLUSIONS: Most of our patients with storage diseases had Gaucher disease. Hepatomegaly and elevated transaminase levels were the most striking finding. However, with regard to the limitations of our methodology, further studies that collect more accurate data are warranted.