Mirza Beg

Rare Neurological Manifestation of Celiac Disease

Celiac disease (CD) is an immune-mediated disease characterized by permanent gastrointestinal tract sensitivity to gluten in genetically predisposed individuals. It has varied clinical manifestations, ranging from gastrointestinal to extraintestinal, including neurological, skin, reproductive and psychiatric symptoms, which makes its diagnosis difficult and challenging. Known neurological manifestations of CD include epilepsy with or without occipital calcification, attention deficit hyperactivity disorder and ataxia, headache, neuropathies and behavior disorders. We present the case of a 14-year-old female with headaches and blurred vision for 1 year; she was noted to have papilledema on ophthalmic examination with increased cerebrospinal fluid opening pressure on lumber puncture and was diagnosed as a case of pseudotumor cerebri (PTC). Meanwhile her workup for chronic constipation revealed elevated tissue transglutaminase IgA and antiendomysial IgA antibodies. Upper gastrointestinal endoscopy with duodenal biopsy confirmed the diagnosis of CD. The patient was started on a gluten-free diet, leading to resolution of not only gastrointestinal symptoms but also to almost complete resolution of symptoms of PTC. This report describes the correlation of CD and PTC as its neurological manifestation.

Pediatric Tourette Syndrome: A Tic Disorder with a Tricky Presentation

Dysphagia is a condition in which disruption of the swallowing process interferes with a patient’s ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS) is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include oropharyngeal dysphagia. Dysphagia as a result of TS generally affects female, elderly patients and is not reported in children. While the pathophysiology is relatively unknown, experts believe TS is closely linked to damage or abnormalities in the basal ganglia of the brain. We present this interesting pediatric case of dysphagia due to EoE, which had been previously thought to be related to the patient’s TS.

Sphincter of Oddi Dysfunction: A Perplexing Presentation

Sphincter of Oddi dysfunction is caused by stenosis or dyskinesia of the sphincter of Oddi, leading to blockage of bile drainage from the common bile duct. We present the case of a 16-year-old female with chronic abdominal pain who underwent laparoscopic cholecystectomy for cholelithiasis but continued to experience abdominal pain, nausea, and vomiting along with persistently elevated ALT and AST levels. Postoperative abdominal ultrasound was nondiagnostic. Esophagogastroduodenoscopy showed mild reflux esophagitis and mild chronic Helicobacter pylori-negative gastritis. Omeprazole was started, but it did not decrease the frequency and severity of the abdominal symptoms. Magnetic resonance cholangiopancreatography did not reveal any pathology. Endoscopic retrograde cholangiopancreatography with manometry confirmed an elevated biliary sphincter pressure. Biliary sphincterotomy was performed, and the symptoms improved.

RELIABILITY, SAFETY AND EFFECTIVENESS OF THE BRAVOTM CAPSULE: A CATHETER-FREE PH MONITORING SYSTEM FOR EVALUATION OF GASTROESOPHAGEAL REFLUX DISEASE IN CHILDREN

There are overwhelming reports and descriptions about celiac associated disorders. Although there is a clear genetic association between celiac disease (CD) and some gastrointestinal disorders, there are controversial reports claiming an association between CD and Helicobacter pylori (H. pylori) infection. Different studies indicated the possible association between lymphocytic gastritis and both CD and H. pylori infection, although this evidence is not consistently accepted. Also it was shown that an increase in intraepithelial lymphocytes count is associated with both H. pylori infection and celiac disease. Therefore the following questions may raise: how far is this infection actually related to CD?, which are the underlying patho-mechanisms for these associations? what are the clinical implications? what is the management? and what would be the role of gluten free diet in treating these conditions? PubMed (PubMed Central), Ovid, ISI of web knowledge, and Google scholar were searched for full text articles published between 1985 and 2015. The associated keywords were used, and papers described particularly the impact of pathological and clinical correlation between CD and H. pylori infection were identified. In this review we tried to answer the above questions and discussed some of the recent developments in the pathological and clinical aspects of CD and H. pylori infection.

Autoimmune hepatitis in a child presenting with hepatopulmonary syndrome (HPS).

HPS has been described in 9–20% of children with end‐stage liver disease. We present a case of a previously, asymptomatic nine‐yr‐old incidentally found to have low oxygen saturation. Physical exam was remarkable for digital clubbing, splenomegaly and orthodeoxia. Laboratory evaluation revealed a low platelet count, hyperammonemia, and prolonged coagulation studies. Sonography showed evidence of splenomegaly and portal venous hypertension. High resolution CT thorax and CTA were normal. HPS was confirmed by agitated saline contrast enhanced echocardiography and Tc‐99m MAA scan with evidence of intrapulmonary vascular dilatations. Liver biopsy was performed and consistent with autoimmune hepatitis. A high clinical index of suspicion should be maintained for HPS in pediatric patients who have unexplained hypoxemia as typical signs and symptoms of severe liver disease are often absent. In this report, we discuss a case of HPS complicated AIH in a pediatric patient and review the relevant literature.

A Physician’s Nightmare: Fever of Unknown Origin

Fever of unknown origin (FUO) remains to be a challenge despite advancement in diagnostic technologies and procedures. FUO is considered when fever presents intermittently without an explanation. It has been linked to various etiologies, which makes it difficult to diagnose. We present the case of 18-month-old female with recurrent fever, splenomegaly, abdominal pain, and constipation. The workup for her symptoms revealed wandering spleen. Wandering spleen is a result from excessive laxity or absence of splenic ligaments. The patient underwent splenectomy and was advised to continue on Senna, Miralax, and high fiber diet. Her mother reported that the fever is no longer present and there is marked improvement in her constipation and abdominal pain after splenectomy.

Pulmonary Crohn's Disease in Down Syndrome: A Link or Linkage Problem.

Crohn’s disease (CD) is an autoimmune inflammatory disorder that primarily affects the gastrointestinal tract. It may have pulmonary involvement, which has been rarely reported in pediatric patients. Down syndrome (DS) has been associated with increased frequency of autoimmune diseases. However, associations between CD and DS have been rarely reported. We present the case of a 5-year-old girl with known DS and a history of chronic intermittent abdominal pain who presented with persistent pneumonia. Her workup included a chest computed tomography (CT) scan that showed multiple noncalcified pulmonary nodules. An extensive infectious workup was done that was negative. CT-guided needle biopsy of the lung nodules showed necrotizing granulomas. This raised concern for primary CD with extraintestinal pulmonary manifestation. An esophagogastroduodenoscopy and colonoscopy were performed, and colon biopsies showed scattered epithelioid granulomas. Based on this information, there was consensus that her lung nodules were secondary to CD. She was started on standard therapy for CD, and her abdominal and respiratory symptoms gradually improved. However, she continues to have mild residual lung calcification and fibrosis. To our knowledge, this is the first reported case of pulmonary CD in a child with DS. The natural history of pulmonary CD in the pediatric population is not very well studied. Furthermore, since DS has been well known to be associated with increased frequency of malignancies and autoimmune conditions due to immune dysregulation, it is difficult to predict the severity and possible complications in this patient.

Case 2: Recurrent Anemia in a 10-year-old Girl.

1. Uzma Rani, MBBS* 2. Aamer Imdad, MBBS* 3. Mirza Beg, MD* 1. *SUNY Upstate Medical University, Syracuse, NY. A 10-year-old premenarchal girl presents to the emergency department with an episode of syncope. She has been feeling progressively more tired for the last week, and her mother noticed that she was pale. The girl has had intermittent headaches but no complaints of palpitations, weight loss, abdominal pain, or rectal bleeding. Her diet consists of vegetables and meat. She is taking oral iron supplements because she presented with similar symptoms 4 months ago and was found to have severe anemia (hemoglobin of 4.9 g/dL [49.0 g/L]). The cause of the anemia at that time was determined to be iron deficiency, based on peripheral blood smear, iron studies, and bone marrow examination. A stool guaiac test was negative and hemoglobin electrophoresis yielded normal results. After packed red blood cell transfusion, she was started on ferrous sulfate supplements. Her anemia responded to iron supplements; her hemoglobin 3 months later measured 11 g/dL (110 g/L). Her maternal uncle has aplastic anemia. Physical examination findings today include: heart rate of 116 beats/min, respiratory rate of 28 breaths/min, blood pressure of 102/52 mm Hg, oxygen saturation of 100%, and body mass index of 15.3. The only finding of note on physical examination is conjunctival pallor. …