MRI of childhood epilepsy due to inborn errors of metabolism.

OBJECTIVE: The purpose of this pictorial essay is to classify epilepsy syndromes due to inborn errors of metabolism according to age at onset and type of seizure and to show the MRI features of many of the syndromes. CONCLUSION: Epilepsy syndromes due to inborn errors of metabolism are rare, but it is important to detect them at an early stage because some are treatable. MRI is an important tool in the assessment of these patients.

Surgical management of colonic volvulus during same hospital admission.

OBJECTIVE: To study the local patient profile, diagnostic methods, and treatment outcome in patients with large bowel volvulus to recommend a management plan. METHODS: A retrospective study of patients record with a final diagnosis of large bowel volvulus treated at King Saud Medical Complex, Riyadh, Saudi Arabia between January 2000 and December 2007 were performed for patient demography, clinical presentations, co-morbidity, diagnostic methods, anatomical types, management, and outcome. RESULTS: Forty-two patients with large bowel volvulus were reviewed. They represented 8.5% of all intestinal obstructions treated. Most had sigmoid volvulus (83%), were less than 60 years of age, and were male. Recognized risk factors were present in 12 (29%) patients. Diagnosis was suspected on plain abdominal x-ray in 28 patients (69%), although the characteristic signs of omega and coffee bean were seen in only 16 patients. Eight patients required emergency surgery. Endoscopic decompression was successful in 34 patients, followed by a definitive surgery in 24 patients. Seven patients refused surgery; 3 of them were readmitted with recurrence and were operated. Three patients were unfit for surgery. There were 3 deaths. CONCLUSION: Large bowel volvulus is uncommon in this area. Abdominal distension with pain, constipation, and characteristic gas pattern in plain x-ray can help diagnose most cases. Decompression can be achieved in most patients with sigmoid volvulus, followed by surgery during the same hospital admission. Transverse colon and cecal volvulus usually need emergency surgery.

Gastrointestinal tract bleeding in intellectually disabled adults.

BACKGROUND: Gastrointestinal (GI) tract bleeding in intellectually disabled (ID) individuals presents peculiar diagnostic and management difficulties. This study details the experience of a tertiary referral teaching hospital in Central Saudi Arabia in the management of GI bleeding necessitating admission in ID adults. PATIENTS AND METHODS: Prospective collection of data was taken on consecutive ID adults admitted for GI bleeding from January 2000 through December 2004. Demographic details, clinical presentation, diagnosis, associated physical and neurologic disabilities, etiology of bleeding and treatment outcome were analyzed. RESULTS: Thirty-nine ID adults accounted for 44 admissions during the period under review. Twenty-six (66.7%) patients were admitted with upper, and 13 (33.3%) for lower GI bleeding. Reflux esophagitis (57.7%) remained the most common cause of upper GI bleeding. Five out of 26 patients with upper and 6 of 13 with lower GI bleeding needed operative treatment. Various congenital anomalies or malformations were observed frequently associated with lower GI bleeding. CONCLUSIONS: Bleeding GERD remained the most common etiology of upper GI bleeding necessitating admission. Endoscopy is the mainstay in diagnosis and initial management of ID patients. Continued surveillance endoscopy is recommended for early diagnosis of Barrett changes. Bleeding from developmental malformations may have association with intellectual disability.

Mirizzi syndrome: ten years experience from a teaching hospital in Riyadh.

OBJECTIVE: Mirizzi syndrome (MS) is an uncommon presentation of cholelithiasis. This study aims to find the incidence and analyze the outcome of management of this condition at Riyadh Medical Complex (RMC) with particular reference to diagnostic methods and outcome of surgical treatment. METHODS: Retrospective study on 17 consecutive patients of MS diagnosed and managed at RMC over ten year period. The records were reviewed for demography, clinical presentation, diagnostic methods, operative procedures, postoperative complication and follow up. RESULTS: The incidence of MS syndrome was 0.7% of 2415 cholecystectomies. There was preponderance of Type I variety (58.8%). Ultrasonography was able to diagnose 82% cases. ERCP suggested the diagnosis in all cases and helped further in classifying and management of these patients. All Type I cases were managed with partial cholecystectomy, two underwent laparoscopic surgery. Three Type II patients were managed by partial cholecystectomy alone. Three patients with Type III variety had choledochoplasty whereas one remaining patient with Type IV variety underwent hepatico-jejunostomy. All patients had complete recovery with 17.6% procedure-related morbidity and no hospital mortality. All patients are doing well over a mean follow up 6.5 years. CONCLUSION: Preoperative diagnosis of Mirizzi syndrome by ultrasound and ERCP is essential to prevent serious complications during surgery. Partial cholecystectomy is an adequate procedure for Types I & II MS. Choledochoplasty provides an effective surgical repair in Type III cases. Although laparoscopic cholecystectomy in MS may be hazardous, it may still be tried in preoperatively diagnosed type I cases, provided the surgeon is experienced and keeps a low threshold for conversion open surgery.