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      Sanjad-Sakati Syndrome and Its Association with Superior Mesenteric Artery Syndrome

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      Case Reports in Pediatrics

      Hindawi Publishing Corporation

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          Abstract

          Sanjad-Sakati syndrome (SSS) is an autosomal recessive disorder found exclusively in people of Arabian origin. It was first reported in the Kingdom of Saudi Arabia in 1988 and confirmed by a definitive report in 1991. The syndrome comprises of congenital hypoparathyroidism, seizures, severe growth and developmental retardation, low IQ, and atypical facial features. Supportive treatment in the form of vitamin D and growth hormone supplementation is often offered to patients suffering from SSS. This case study focuses on the steps taken to help a patient who was found to have very unusual symptoms and was later found to have superior mesenteric artery syndrome.

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          Most cited references 13

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          Superior mesenteric artery syndrome: CT and ultrasonography findings.

          The purpose of the study was to describe computed tomography (CT) and ultrasonography findings in superior mesenteric artery syndrome (SMAS). The study was performed on 89 CT examinations. Ultrasonography was performed on 32 and barium study was performed on four of these subjects. Group A consisted of cases with one or more of the following complaints: postprandial epigastric pain, weight loss and vomiting. Group B consisted of the remaining cases. Cases who had all of the above-mentioned clinical findings and duodenal dilatation, to-and-fro barium movement and SMA indentation in barium study were diagnosed as having SMAS. Body mass index (BMI, kg/m2) was calculated. The distance between SMA and aorta, at the location where the duodenum passes from, was measured on CT and ultrasonography. The angle between SMA and aorta was measured on ultrasonography images. Group and gender differences were analyzed with t-test, the relationship between clinical and CT findings was analyzed with Mann Whitney U test and the relations between BMI-CT and CT-ultrasonography measurements were analyzed with Pearson coefficients. Of 13 cases in Group A, 3 were diagnosed as SMAS. Eight of the cases showed gastric and/or duodenal dilatation. In 6 cases, antrum had an abnormally high location at portal hilus. In Group A, the SMA-aorta distance was 6.6 +/- 1.5 mm and the SMA-aorta angle was 18.7 +/- 10.7 degrees . In Group B, these values were 16.0 +/- 5.6 mm and 50.9 +/- 25.4 degrees , respectively (p < 0.001). Cut-off values between SMAS and Group B were 8 mm (100% sensitivity and specificity), and 22 degrees (42.8% sensitivity, 100 % specificity). CT and ultrasonography measurements (p < 0.001) and SMA-aorta distance and BMI (p=0.004) were significantly correlated. The SMA-aorta distance was significantly shorter in females (p=0.036). Gastric and/or duodenal dilatation and a diminished SMA-aorta distance have a significant correlation with clinical symptoms of SMAS that include postprandial pain, vomiting and weight loss.
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            Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

            The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations. A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome (AR-KCS; OMIM 244460). Both traits have previously been mapped to chromosome 1q43-44 (refs 5,6) and, despite the observed clinical variability, share an ancestral haplotype, suggesting a common founder mutation. We describe refinement of the critical region to an interval of roughly 230 kb and identification of deletion and truncation mutations of TBCE in affected individuals. The gene TBCE encodes one of several chaperone proteins required for the proper folding of alpha-tubulin subunits and the formation of alpha-beta-tubulin heterodimers. Analysis of diseased fibroblasts and lymphoblastoid cells showed lower microtubule density at the microtubule-organizing center (MTOC) and perturbed microtubule polarity in diseased cells. Immunofluorescence and ultrastructural studies showed disturbances in subcellular organelles that require microtubules for membrane trafficking, such as the Golgi and late endosomal compartments. These findings demonstrate that HRD and AR-KCS are chaperone diseases caused by a genetic defect in the tubulin assembly pathway, and establish a potential connection between tubulin physiology and the development of the parathyroid.
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              A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

              Twelve infants (six boys, six girls) with severe hypocalcaemic tetany or convulsions were seen over a three year period. Nine patients were symptomatic in the newborn period. Their hypocalcaemia was associated with hyperphosphataemia and very low concentrations of immunoreactive parathyroid hormone. None of the babies suffered from congenital cardiac disease. Cell mediated immunity, measured in five patients, was normal. There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear anomalies, micrognathia, and depressed nasal bridge. Mental retardation of varying degree was found in all patients. All had severe intrauterine and postnatal growth retardation. Four patients have died. The remaining eight patients are on treatments with vitamin D and calcium supplements with no change in their growth pattern. We believe that this association of congenital hypoparathyroidism with severe growth failure and dysmorphism represents a new syndrome.
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                Author and article information

                Affiliations
                King Faisal Specialist Hospital Research Centre, P.O. Box 280581, Riyadh 11392, Saudi Arabia
                Author notes
                *Osamah Abdullah AlAyed: usamah222@ 123456hotmail.com

                Academic Editor: Doris Fischer

                Journal
                Case Rep Pediatr
                Case Rep Pediatr
                CRIPE
                Case Reports in Pediatrics
                Hindawi Publishing Corporation
                2090-6803
                2090-6811
                2014
                9 November 2014
                : 2014
                10.1155/2014/108051
                4241564
                Copyright © 2014 Osamah Abdullah AlAyed.

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                Categories
                Case Report

                Pediatrics

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