Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome

Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.     

Endemic Norovirus Infections in Children,Ho Chi Minh City,Vietnam, 2009–2010

We performed a case–control investigation to identify risk factors for norovirus infections among children in Vietnam. Of samples from 1,419 children who had diarrhea and 609 who were asymptomatic, 20.6% and 2.8%, respectively, were norovirus positive. Risk factors included residential crowding and symptomatic contacts, indicating person-to-person transmission of norovirus.     

Separation of lymphoid and myeloid blasts in the mixed blast crisis of chronic myelogenous leukemia: no evidence for Ig gene rearrangement in CALLA-positive blasts

Recent studies suggest that lymphoid blast crisis cells of chronic myelogenous leukemia (CML) expressing the common acute lymphoblastic leukemia antigen (CALLA) are B precursor cells, based on the demonstration of immunoglobulin (Ig) gene rearrangement similar to common acute lymphocytic leukemia. There is little evidence to suggest whether the cells with similar lymphoid characteristics in the mixed blast crisis of CML are also committed to B cell lineage. A patient in "mixed" blast crisis of CML was studied. On the basis of morphology, cytochemistry, and immunological studies, the blasts were classified as having either lymphoid or myeloid characteristics. A proportion of the leukemic blasts expressed CALLA, whereas others expressed My7 antigen. In order to characterize both populations of cell further, CALLA+ blasts and My7+ (myeloid) blasts were isolated by fluorescence-activated cell sorting. The My7+ cells were highly proliferative in cell culture blast colony assays, retained the Ph1 chromosome, and were indistinguishable from acute myelogenous leukemia blasts. The CALLA+ cells were also Ph1-chromosome positive, but in contrast, were poorly proliferative in vitro. Of particular note was their retention of germline configuration of Ig genes, thus distinguishing them from blasts in the lymphoid crisis of CML. We conclude that the lymphoid component in mixed blast crisis may represent a stage of differentiation prior to commitment to B lineage.     

Postoperative spondylitis after posterior lumbar interbody fusion using cages

The recommended surgical options for postoperative wound infections after instrumented spine surgery include a wide debridement and irrigation with antibiotics. In most cases, implant removal is not recommended for a solid fusion. However, there are few reports on the treatment choices for persistent postoperative wound infections following a posterior lumbar interbody fusion (PLIF) using cages. This paper reviewed ten patients referred to our department, who underwent revision surgery for a postoperative, deep infection after a PLIF with cages. The surgery included an anterior radical debridement and interbody fusion with removal of all implants. The clinical and laboratory results, including a bacteriologic study for the causative organism and the radiological changes, were analyzed. All patients complained of persistent severe back pain after the primary surgery. MRSA was the main organism found in these patients (five cases). Complete bony fusion was obtained in nine patients (90%). In one patient, back pain and radiating pain prevented him from returning to his original work. Despite the anterior interbody fusion with an autogenous iliac bone graft, all cases had a complete collapse of the intervertebral disc space, without a dislodgement or collapse of the graft bone. The mean loss of the height and lordosis in the involved segment was 12.7 mm (range 4–46 mm) and 5.6° (range 0–15°), respectively. Anterior radical debridement with the removal of all implants would be an effective way to manage patients with postoperative spondylitis after a PLIF using cages.     

Attempted treatment of factor H deficiency by liver transplantation

Complement factor H (FH) deficiency is one of the causes of atypical hemolytic uremic syndrome (HUS). Most patients with FH deficiency associated HUS progress to end-stage renal disease despite plasma therapy. Moreover, the disease invariably recurs in the graft kidney and causes graft failure. We confirmed FH deficiency in a 30-month-old boy with recurrent HUS of 2 years duration, and attempted an auxiliary partial orthotopic liver transplantation (APOLT) to overcome the sustained intractable dependency on plasma therapy. APOLT restored the plasma FH level, without HUS recurrence, for 7 months. However, thereafter he suffered from serious infectious complications associated with immunosuppression and finally died 11 months after APOLT. In conclusion, although APOLT showed clinical and laboratory improvement for some period in this patient, the final fatal outcome suggests that liver transplantation should be cautiously applied to patients with HUS associated with FH deficiency.     

Endoscopic resection of granular cell tumors in the gastrointestinal tract: a single center experience

Background

The frequency of granular cell tumors (GCTs) identified in the gastrointestinal tract has recently increased with the increased use of routine endoscopy. Endoscopic treatment is increasingly used as an alternative to traditional surgical resection, but there are few reports on the efficacy, safety, and long-term prognosis of endoscopic treatment for GCTs. The aim of this study was to assess the efficacy, safety, and long-term prognosis of endoscopic resection for the gastrointestinal GCTs.

Methods

We examined a total of 27 GCTs in 25 patients who were treated by endoscopic resection from January 2007 to February 2011. For endoscopic resection, endoscopic mucosal resection (EMR) or endoscopic submucosal dissection (ESD) was used.

Results

Twenty GCTs were located in the esophagus, 5 in the stomach, and 2 in the colon. The median size of the GCTs was 10 mm; the largest size, located in the ascending colon, measured 18 mm. EMR with a ligation device was performed in 20 cases, conventional EMR in 5 cases, and ESD in 2 cases. En bloc resection was performed in 25 cases (92.6 %), and endoscopic complete resection piecemeal resection was achieved in 25 cases (92.6 %). Pathologic complete resection was achieved in 22 lesions (81.5 %). Intraprocedural bleeding was noted in three patients, with no occurrence of perforation or postprocedure stricture. No recurrence was observed during the mean follow-up period of 15 months (range 9–31 months).

Conclusions

Endoscopic resection appears to be a safe and effective treatment for GCTs in the gastrointestinal tract.     

Preoperative evaluation of gallbladder carcinoma: efficacy of combined use of MR imaging,MR cholangiography,and contrast-enhanced dual-phase three-dimensional MR angiography

PURPOSE: To determine the efficacy of the combined use of magnetic resonance (MR) imaging, MR cholangiography (MRC), and MR angiography (MRA) in the preoperative evaluation of gallbladder carcinoma. MATERIALS AND METHODS: During a 20-month period, 41 patients with proven gallbladder carcinomas were referred for MR examination, including MR imaging, MRC, and gadolinium-enhanced dual-phase MRA to determine the operability of their gallbladder carcinoma. Eighteen patients who underwent surgery within six days of the MR examination were included in this study. All MR images were analyzed in order to assess bile duct invasion, vascular invasion, hepatic invasion or metastasis, lymph node metastasis, and invasion into adjacent organs. RESULTS: Surgical and histopathologic findings revealed hepatic invasion in nine patients, bile duct invasion in nine, vascular invasion in three, and lymph node metastasis in 10. The sensitivity and specificity of MR examination were, respectively, 100% and 89% for bile duct invasion, 100% and 87% for vascular invasion, 67% and 89% for hepatic invasion, and 56% and 89% for lymph node metastasis. CONCLUSION: The "all-in-one" MR protocol, including MR imaging, MRC, and MRA, can be an effective diagnostic method in the preoperative work-up for gallbladder carcinoma.     

Diagnosis of intrahepatic stones: superiority of MR cholangiopancreatography over endoscopic retrograde cholangiopancreatography

OBJECTIVE: The purpose of this study was to compare the efficacy of MR cholangiopancreatography (MRCP) and endoscopic retrograde cholangiopancreatography (ERCP) for the diagnosis of intrahepatic stones. MATERIALS AND METHODS: Of the 318 patients who underwent MRCP examinations at our institution during an 18-month period, we identified 49 patients who subsequently underwent surgery or cholangioscopic stone removal with proof of intrahepatic stones. Thirty-four of these patients also underwent ERCP; they made up our study population. All images were interpreted for the presence of bile duct stones: MRCP images were interpreted independently by two reviewers, and ERCP studies were interpreted by one reviewer who was unaware of the MRCP findings. RESULTS: The sensitivity and specificity of MRCP for detecting intrahepatic stones were 97% and 93%, respectively, whereas those of ERCP were 59% and 97%, respectively. MRCP showed a significantly higher sensitivity than ERCP in the diagnosis of intrahepatic stones (p < 0.001). We found no significant difference between MRCP and ERCP in sensitivity or specificity for detecting calculi in the common duct or gallbladder. CONCLUSION: MRCP is a more effective diagnostic method than ERCP for the evaluation of intrahepatic stones.     

Intracranial and Spinal Ependymomas: Review of MR Images in 61 Patients

Objective

To compare the age distribution and characteristic MR imaging findings of ependymoma for each typical location within the neuraxis.

Materials and Methods

During a recent eleven-year period, MR images of 61 patients with histologically proven ependymomas were obtained and retrospectively reviewed in terms of incidence, peak age, location, size, signal intensity, the presence or absence of cyst and hemorrhage, enhancement pattern, and other associated findings.

Results

Among the 61 patients, tumor location was spinal in 35 (57%), infrartentorial in 19 (31%), and supratentorial in seven (12%). In four of these seven, the tumor was located in brain parenchyma, and in most cases developed between the third and fifth decade. Approximately half of the infratentorial tumors occurred during the first decade. The signal intensity of ependymomas was non-specific, regardless of their location. A cystic component was seen in 71% (5/7) of supratentorial, 74% (14/19) of infratentorial, and 14% (5/35) of spinal cord tumors. Forty-nine percent (17/35) of those in the spinal cord were associated with rostral and/or caudal reactive cysts. Intratumoral hemorrhage occurred in 57% (4/7) of supratentorial, 32% (6/19) of infratentorial, and 9% (3/35) of spinal cord tumors. In 17% (6/35) of spinal ependymomas, a curvilinear low T2 signal, suggesting marginal hemorrhage, was seen at the upper and/or lower margins of the tumors. Peritumoral edema occurred in 57% (4/7) of supratentorial, 16% (3/19) of infratentorial and 23% (8/35) of spinal cord tumors. Seventy-two percent (5/7) of supratentorial and 95% (18/19) of infratentorial tumors showed heterogeneous enhancement, while in 50% (17/34) of spinal cord tumors, enhancement was homogeneous.

Conclusion

Even though the MR imaging findings of ependymomas vary and are nonspecific, awareness of these findings, and of tumor distribution according to age, is helpful and increases the likelihood of correct preoperative clinical diagnosis.