ABSTRACT
We report a patient with Cornelia de Lange syndrome with congenital cardiac malformation; double outlet right ventricle and aortopulmonary window. This is the first report describing this combination of findings for Cornelia de Lange syndrome. Behalf of this report, the pathogenesis of congenital heart disease in Cornelia de Lange syndrome was also revisited.
Subject(s)
Aortopulmonary Septal Defect/genetics , De Lange Syndrome/genetics , Double Outlet Right Ventricle/genetics , Aortography , Aortopulmonary Septal Defect/diagnosis , De Lange Syndrome/diagnosis , Double Outlet Right Ventricle/diagnosis , Echocardiography , Female , Humans , Infant , Syndactyly/diagnosis , Syndactyly/genetics , Ultrasonography, Doppler, ColorSubject(s)
Aortic Valve Stenosis , Prune Belly Syndrome , Pulmonary Valve Stenosis , Aortic Valve Stenosis/congenital , Aortic Valve Stenosis/diagnostic imaging , Humans , Infant, Newborn , Male , Prune Belly Syndrome/diagnostic imaging , Pulmonary Valve Stenosis/congenital , Pulmonary Valve Stenosis/diagnostic imaging , UltrasonographySubject(s)
Congenital Hypothyroidism , Infant Formula , Soy Milk , Humans , Infant , Research Design , Thyrotropin/metabolismABSTRACT
PURPOSE: Gallbladder dyskinesia (GD) is a well-established disorder in adults, but it is not clearly defined in the paediatric population. Therefore, the aim of this study was to review our experience in a group of children with chronic abdominal pain associated with impaired gallbladder emptying in the absence of cholelithiasis. METHODS: The records of sixteen patients who underwent cholecystectomy with the diagnosis of GD were evaluated retrospectively. Clinical presentation, symptoms, diagnostic studies, and the effect of cholecystectomy in alleviating abdominal complaints were investigated. RESULTS: All patients had symptoms of upper abdominal pain in the absence of other attributable causes associated with low gallbladder ejection fractions (GEF) < 35 %, during cholecystokinin-stimulated hepatobiliary scan (CCK-HBS), and free of gallstones on ultrasound (USG). Abdominal pain and nausea were the most common presenting symptoms. Mean GEF was 15.3 %. All patients underwent cholecystectomy. The histopathological diagnoses of all operated patients were consistent with chronic cholecystitis. Symptoms were completely relieved in all except two patients. CONCLUSION: GD should be considered in the differential diagnosis of recurrent abdominal pain in children. Patients with this condition present with biliary-type pain and investigations show no evidence of gallstones in the gallbladder. Performing a CCK-HBS establishes the diagnosis. Patients with an abnormal GEF (< 35 %) should undergo cholecystectomy. This procedure has been shown to be effective in curing the symptoms in over 80 % of patients. To avoid late diagnosis, CCK-HBS should be employed early in the evaluation of biliary colic with negative sonographic findings.
Subject(s)
Abdominal Pain , Gallbladder Diseases/physiopathology , Gallbladder Emptying , Abdominal Pain/diagnosis , Abdominal Pain/etiology , Adolescent , Child , Child, Preschool , Cholecystectomy , Female , Gallbladder Diseases/diagnosis , Humans , Male , Retrospective StudiesABSTRACT
Short stature is a common pediatric problem. It may occur rarely as a result of genetic disorders. Leri-Weill dyschondrosteosis (LWD) is one of the rare genetic disorders of skeletal system resulting with short stature. It is characterized by shortness of stature and Madelung deformity of the wrist. Here we report a case of LWD with some skeletal stigmas of Turner syndrome. She has also depressed medial tibial condyles that to our knowledge, has not previously been reported in LWD.