Systematic Review of Outcomes After Cochlear Implantation in Children With X-Linked Deafness-2.

OBJECTIVE: Outcomes following cochlear implantation in children with X-linked deafness-2 are variable, resulting in challenges in appropriate preoperative counseling. To address this uncertainty, we performed a systematic review and synthesis of the literature on audiologic and speech outcomes after cochlear implantation in these patients to inform prognostic counseling. DATA SOURCES: PubMed, Embase, and Cochrane Library were queried for articles published between January 2000 and July 2019. REVIEW METHODS: We performed a systematic review of all studies published between 2000 and 2019 that reported on (1) children with confirmed X-linked deafness-2 undergoing cochlear implantation and (2) formal assessment of hearing and/or speech capabilities postimplantation. RESULTS: Our initial database search yielded 313 articles. Fourteen articles met inclusion criteria. These studies reported on 61 children with X-linked deafness-2 who underwent implantation at a wide age range (1-29 years) for severe-profound sensorineural hearing loss of prelingual onset. The mean follow-up duration after implant activation was 32 months (range, 12-61). Outcome domains assessed at follow-up were heterogeneous, though each study employed at least 1 assessment of hearing (eg, pure tone audiometry), speech perception (eg, Early Speech Perception Test), or auditory perception (eg, Categories of Auditory Perception scores). In 10 of 14 studies, cochlear implantation afforded significant improvement in hearing and speech capabilities relative to preoperative performance or as compared with age-matched, normal-hearing controls. CONCLUSION: The majority of studies demonstrate that cochlear implantation provides improvements in hearing and speech performance in patients with X-linked deafness-2. This information is valuable for decision making regarding cochlear implantation in these patients.

Outcomes of cochlear implantation in patients with incomplete partition type III.

OBJECTIVE: To evaluate the outcomes of the surgery of cochlear implantation (CI) in patients with incomplete partition type III. METHODS: Five patients (6 ears) with incomplete partition type III were performed CI from January 2010 and July 2018. Five ears were performed CI with extended round window approach. One ear was performed with round window approach. RESULTS: The results of computed tomography (CT) showed proper placement of the electrode in 5 ears with extended round window approach. The electrode went into the internal auditory canal in one ear with round window approach. The scores of patients in the CAP and SIR assessment significantly improved after cochlear implantation in all patients during an follow-up period of 12 months. CONCLUSIONS: CI with extended round window approach in patients with incomplete partition type III is a safe and effective method, but also a challenging task. This method maybe avoid the problem of electrode insertion into the IAC.

X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.

X-linked lymphoproliferative syndrome (XLP) is a rare primary immunodeficiency disease that can be divided into two types: SAP deficiency (XLP1) and XIAP deficiency (XLP2), caused by mutations in the SH2D1A and XIAP genes, respectively. Few cases of XLP (particularly XIAP deficiency) have been reported in mainland China; hence, little is known about the characteristics of Chinese patients with XLP. We identified 13 and 7 patients with SAP and XIAP deficiency, respectively, in our center. Of our 20 patients, 19/20 (95%) presented with disease symptoms at a very early age: six in infancy and 13 in childhood. One XIAP- and three SAP-deficient patients died, while 3/7(42.9%) and 4/13(30.8%), respectively, developed hemophagocytic lymphohistiocytosis (HLH). Epstein-Barr virus (EBV) infection was significantly more common in SAP-deficient 10/13 (76.9%) than XIAP-deficient 2/7 (28.6%) patients, as was hypogammaglobulinemia (10/13 (76.9%) vs. 1/7 (14.3%)). None of the seven XIAP-deficient patients had colitis or lymphoma. Nine SAP-deficient patients and five XIAP-deficient patients showed markedly deficient SAP and XIAP expression, respectively, in lymphocytes. Significantly reduced levels of switched memory B cells were observed in six SAP-deficient patients with persistent hypogammaglobulinemia. One of 13 (7.7%) SAP-deficient patients and 1 of 7 (12.3%) XIAP-deficient patients have received HSCT treatment and are now alive and well; the other alive patients were waiting for HSCT. We also summarized clinical, genetic, and immunological characteristics of all 55 patients (including our 20 patients) reported in the literature in mainland China today.Conclusion: The overall characteristics of SAP deficiency in mainland China were consistent with those in previous reports, whereas manifestations of XIAP deficiency varied significantly. None of inflammatory bowel disease (IBD) has been reported among XIAP-deficient patients in our center; however, whether Chinese XIAP-deficient patients will develop colitis in the future warrants further investigation. HSCT is the only curative therapy for XLP and this therapy should be urgently considered.What is Known:• SAP and XIAP deficiencies share common clinical feature, HLH, whereas they also have their own specific manifestations.• IBD affects 25-30% of XIAP-deficient patients, which has been reported in other countries especially in European country and Japan.What is New:• This is the largest patient cohort study of XLP in China.• We firstly summarized the clinical features and outcomes of Chinese XIAP-deficient patients and found only 1 in 22 patients developed IBD and diet background may contribute to it; Asian SAP-deficient patients carrying SH2D1A R55X mutation were more prone to HLH.

Prediction of endoscopic third ventriculostomy (ETV) success with preoperative third ventricle floor bowing (TVFB): a supplement to ETV success score.

Preoperative judgement of which children is likely to benefit from endoscopic third ventriculostomy (ETV) is still the most difficult challenge. This study aimed to compare the efficiency of third ventricular floor bowing (TVFB) and ETV success score (ETVSS) in selecting ETV candidates and achieve a better preoperative patient selection method for ETV based on our institutional experience. Children (≤ 16 years old) with newly diagnosed hydrocephalus treated with ETV between January 2013 and June 2018 were included in this prospective study. Patients with TVFB will receive ETV procedure in the pediatric subgroup of our department. ETVSS was calculated in every patient. The ETVSS predicted ETV success rate and the actual ETV success rate in our institution were compared and further analyzed. One hundred twenty-nine children with TVFB were enrolled in our study. The mean age at ETV was 5.84 ± 5.17 years (range, 0.04-16). Brain tumors, aqueductal stenosis, and inflammatory are the most common hydrocephalus etiologies. The most common complication was noninfectious fever (3.1%). During the average follow-up of 19.5 ± 14.95 months, twenty-five patients had depicted ETV failure. The actual ETV success rate (81%) in our study was higher than the success rate (69%) predicted by ETVSS. TVFB is a pragmatic, efficient, and simple model to predict the ETV outcome. We suggest that for hydrocephalic patients with preoperative third ventricular floor bowing, ETV should be the first-treatment choice regardless of the ETV success score. And for patients without such sign, ETVSS should be applied to select ETV candidates.

Urrets-Zavalia Syndrome following cataract surgery in a case of anterior megalophthalmos / Síndrome de Urrets-Zavalia após cirurgia de catarata em um caso de megaloftalmo anterior

ABSTRACT Intraoperative and postoperative cataract surgery in eyes with anterior megalophthalmos are challenging procedures. Herein we describe the case of a 53-year-old male with anterior megalophthalmos who developed unilateral Urrets-Zavalia Syndrome following cataract surgery.

RESUMO O intraoperatório e o pós-operatório de cirurgia de catarata em olhos com megaloftalmo anterior é desafiador. Descrevemos o caso de um homem de 53 anos com megaloftalmo anterior que desenvolveu a Síndrome de Urrets-Zavalia unilateral após cirurgia de catarata.

Clinical evaluation of graded Anderson's procedure in idiopathic infantile nystagmus.

Aim: To study the efficacy of graded, bilateral, single, horizontal yoked rectus muscle recession for correction of anomalous head posture (AHP) in idiopathic infantile nystagmus (IIN). We hypothesize that the above procedure would sufficiently correct AHP in IIN. Methods: Case records of patients who presented with IIN and AHP due to eccentric null position were included in a retrospective study following IRB approval. Best-corrected visual acuity (binocular Snellen's acuity for distance, in both null position and primary position), anterior segment evaluation using slit lamp biomicroscopy, fundus examination, ocular motility examination and stereopsis (using TNO for adults and older children, Titmus fly test for younger children) were recorded. In all cases recession of the yoke muscles was performed with a gradation of recession, depending on the initial head turn as elaborated in Table 1. AHP was recorded before surgery and 1 and 3 months after surgery. Visual acuity and stereopsis before and after surgery were recorded. Results: Mean AHP improved from 22.5 ± 6.12 degrees of head turn preoperatively to 7.58 ± 3.62 degrees at 1-month postoperative visit (p < .001). The mean binocular visual acuity improved from 0.47 ± 0.15 preoperatively to 0.25 ± 0.17 after surgery (p < .001). Conclusion: Graded yoke muscle recession based on the initial head turn was found to be successful in correcting moderate AHP in patients with IIN. This procedure leaves behind two recti muscles for further surgical intervention in cases with residual AHP.

Urrets-Zavalia Syndrome following cataract surgery in a case of anterior megalophthalmos.

Intraoperative and postoperative cataract surgery in eyes with anterior megalophthalmos are challenging procedures. Herein we describe the case of a 53-year-old male with anterior megalophthalmos who developed unilateral Urrets-Zavalia Syndrome following cataract surgery.

[Laparoscopic Surgery for a Case of Double Digestive Cancers with X-Linked Agammaglobulinemia].

A 65-year-old man was diagnosed with agammaglobulinemia at the age of 53 years. To investigate the cause of the increased CRP value, CT was performed and revealed thickening of the walls of the ascending colon and rectum. Colonoscopy revealed tumors and stenoses in the ascending colon and rectum. Both tumors were found to be adenocarcinomas in histological examinations. The preoperative diagnosis of the ascending colon and rectal cancers was cT4aN0M0, cStageⅡb. Preoperatively, we administered 10.0 g of immunoglobulin intravenously. We performed laparoscopic right hemicolectomy and high anterior resection with D3 dissection of the lymph node. On postoperative day 1, we again administered 10.0 g of immunoglobulin intravenously. The patient recovered uneventfully and was discharged on postoperative day 13. Laparoscopic colectomy for patients with agammaglobulinemia can be performed safely by administering immunoglobulin during the perioperative period.

Bilateral Xp11.2 translocation renal cell carcinoma: a case report.

BACKGROUND: Xp11.2 translocation renal cell carcinoma (RCC) is a rare variety of a kidney neoplasm. We report a case of bilateral Xp11.2 translocation RCC occurring metachronously and discuss this very rare entity with reference to the literature. CASE PRESENTATION: The patient was a 56-year-old woman who presented with a right renal tumor. The patient had undergone left radical nephrectomy 7 years previously, which resulted in a histopathological diagnosis of clear cell RCC. Open right partial nephrectomy was performed under the presumptive diagnosis of recurrence of clear cell RCC. The present right renal tumor was pathologically diagnosed Xp11.2 translocation RCC. More than 70% of the tumor cells in the present right tumor were strongly positive for transcription factor E3 (TFE3) expression by immunohistochemical analysis with an anti-TFE3 antibody. A break-apart of the TFE3 genes in the bilateral tumors was identified by fluorescence in situ hybridization analysis. Real time-polymerase chain reaction analysis for the alveolar soft part sarcoma locus-TFE3 fusion gene was performed, which gave a positive result in the bilateral tumors. Pathological comparison of each of the tumors might lead to a final diagnosis of Xp11.2 translocation RCC occurring metachronously. CONCLUSIONS: We present the bilateral Xp11.2 translocation RCC. A combination of immunohistochemical, cytogenetic and molecular biological approaches allowed the final diagnosis of such a rare RCC.

Small lens for a big eye: Successful management of anterior megalophthalmos.

We report a case of anterior megalophthalmos and complicated cataract, with apparently smaller lens in both eyes. The right eye had spontaneous retinal detachment. The child underwent cataract surgery in both the eyes with retinal detachment surgery in the right eye. Due to small size of the lenticular bag, a downsized customized intraocular lens (IOL) was implanted. Postoperatively, the IOL was well centered with ambulatory vision till 3 years of follow-up. This case describes this rare disorder and its association with apparently small-sized lens and discusses the course of its management, highlighting the visual rehabilitation with customization of IOLs.

Incomplete partition type III: A rare and difficult cochlear implant surgical indication.

OBJECTIVE: Presenting the clinical features and treatment options for incomplete partition type-III. METHODS: Nine primary and 1 revision incomplete partition type-III cochlear implant cases treated between 2004 and 2015 in Hacettepe University Department of Otolaryngology were included in the study. Treatment options and particularly cochlear implantation tecnique were described. RESULTS: Nine primary and 1 revison cases were all succesfully implanted. Eight cases were standart cases with no secondary intervention. Case #9 has to be revised intraoperatively and case #10 were operated four times in another center and revised in our department. CONCLUSION: Incomplete partition type-III is one of the rarest inner ear anomaly and the rarest among incomplete partition group. Treatment options may differ depending on the hearing loss level of the patient. Stapes surgery should be avoided because it will lead to gusher and further hearing loss. Preoperative imaging is mandatory in order to avoid unnecessary stapes surgery. Incochlear implantation surgery a gusher and misplacement into the IAC may complicate the surgery. Gusher should be controlled intraoperatively and the position of the electrode should be controlled via intraoperative imaging.

Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case Report.

STUDY DESIGN: Case report. OBJECTIVE: We report here on an 18-month-old boy with brachytelephalangic chondrodysplasia punctata (BCDP), whose atlantoaxial instability was successfully managed with occipitocervical instrumented fusion (OCF) using screw and rod instrumentations. SUMMARY OF BACKGROUND DATA: Recently, there have been a number of reports on BCDP with early onset of cervical myelopathy. Surgical OCF is a vital intervention to salvage affected individuals from the life-threatening morbidity. Despite recent advancement of instrumentation techniques, however, rigid OCF is technically demanding in very young children with small and fragile osseous elements. To our best knowledge, this is the first report on application of the instrumentation technique to a toddler patient with BCDP. METHODS: A 16-month-old boy with BCDP presented with tetraplegia and swallow obstacle. Hypoplasia of the odontoid process and atlantoaxial instability were present in lateral radiographs. T2-weighted magnetic resonance (MR) images revealed a high signal region in the spinal cord at the C1-2 and C7-T1 levels. Cervical computed tomography (CT) showed that the pedicles and lateral masses in the cervical spine were small and immature, but the laminae were comparatively thick. RESULTS: One week before surgery, the patient was fitted with a Halo-body jacket. We performed plate-rod placement with occipital cortical screws and C2/C3 interlaminar screws, and added an autogenous bone graft using the right 8 and 9 ribs. Rigid fixation of the occipito-cervical spine was completed successfully without major complications. Postoperative halo-body jacket immobilization was continued for 3 months, after which Aspen collar was fitted. CT confirmed occipitocervical bone fusion at 6 months after surgery. Mild clinical improvements in motor power of the affected muscles and swallowing were witnessed at 1 year postoperatively. CONCLUSION: Rigid fixation using screw, rod, and occipital plate instrumentation was successful in an 18-month-old toddler with BCDP and atlantoaxial instability. Bone fusion was achieved at postoperative 6 months. LEVEL OF EVIDENCE: 5.

Mycobacterium genavense-induced spindle cell pseudotumor in a pediatric hematopoietic stem cell transplant recipient: Case report and review of the literature.

We describe the first reported pediatric patient to our knowledge with a spindle cell pseudotumor caused by Mycobacterium genavense in a hematopoietic stem cell transplant recipient, and review the literature of such an entity in the transplant population.

Minimally Invasive Surgical Management of Thoracic Ossification of the Ligamentum Flavum Associated with X-linked Hypophosphatemia.

BACKGROUND: X-linked hypophosphatemia (XLH) is the most common inherited form of renal phosphate wasting and inherited rickets. Patients have hyperplasia of fibrochondrocytes in tendons and ligaments, causing the structures to thicken and calcify. Thickening of the lamina, hypertrophy of facet joints, and calcification of spinal ligaments are sequelae of this condition and can result in central or foraminal stenosis that compresses nerve roots or the spinal cord. We present a case of XLH with calcification of the ligamentum flavum in which the patient was operated on using minimally invasive posterior decompression. CASE DESCRIPTION: A 49-year-old man with a history of XLH presented to our emergency department with symptomatic myelopathy from multilevel thoracic stenosis. Radiographically, the calcified ligamentum flavum appeared to be the cause of the stenosis at various levels. The patient underwent a posterior decompression at the levels of compression, T4-T5, T8-T9, T9-T10, and T11-T12, via a minimally invasive spine surgery approach. Intraoperatively, the ligamentum flavum appeared to be both calcified and the source of spinal compression. Postoperatively, the patient experienced neurologic and radiographic improvement. CONCLUSION: Patients with a history of XLH and multilevel symptomatic spine stenosis can be treated successfully and safely with a minimally invasive posterior decompression.

Endoscopic third ventriculostomy through lamina terminalis: A feasible alternative to standard endoscopic third ventriculostomy.

CONTEXT: Endoscopic third ventriculostomy (ETV), wherein a stoma is created in the floor of the third ventricle, has now become the standard procedure for noncommunicating hydrocephalus across the world. However, in certain situations, this procedure may pose technical difficulties. These include a narrow prepontine space, vascularized third ventricular floor, the presence of prominent blood vessels traversing within the prepontine space, significant basal exudates, thickened and ill-defined third ventricular floor, and distorted floor anatomy. In such situations, an endoscopic lamina terminalis opening may provide a safer and more effective alternative to the standard technique. AIMS: The paper aims to discuss the different indications, technical nuances, and outcome of endoscopic third ventriculostomy through the lamina terminalis (ETV LT) utilizing the standard transventricular transforaminal route. SETTINGS AND DESIGN: A total of 240 patients underwent ETV between January 2007 and January 2014. Of these patients, 8 patients required an EVT LT and these patients formed the subset of patients for the present study. In all the 8 patients, the decision to perform fenestration of the LT during the endoscopic procedure was taken intraoperatively. We qualified a procedure to be a success when a second procedure was not required subsequently. RESULTS: Of the eight patients in whom ETV LT was done, four had aqueductal stenosis (including one case of post-primary ETV), three patients were diagnosed with post-meningitic hydrocephalus, and the remaining patient had a posterior fossa tumor. The procedure was successful in 6 of our patients who did not require a second procedure till the last follow-up. CONCLUSIONS: Endoscopic transventricular transforaminal LT fenestration with a flexible neuroendoscope is a feasible alternative to the standard ETV when technical difficulties precludes safe performance of the latter procedure.

Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.

X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. His height was 163 cm, his weight was 36 kg, and he had markedly elevated GH and IGF-1. MRI showed a non-invasive sellar mass measuring 32.5 × 23.9 × 29.1 mm. Treatment was declined and the family was lost to follow-up. At the age of 10 years and 7 months, he presented again with headaches, seizures, and visual disturbance. His height had increased to 197 cm. MRI showed an invasive mass measuring 56.2 × 58.1 × 45.0 mm, with compression of optic chiasma, bilateral cavernous sinus invasion, and hydrocephalus. His thyrotrope, corticotrope, and gonadotrope axes were deficient. Surgery, somatostatin analogs, and cabergoline did not control vertical growth and pegvisomant was added, although vertical growth continues (currently 207 cm at 11 years 7 months of age). X-LAG syndrome is a new genomic disorder in which early-onset pituitary tumorigenesis can lead to marked overgrowth and gigantism. This case illustrates the aggressive nature of tumor evolution and the challenging clinical management in X-LAG syndrome.

Successful Allogeneic Hematopoietic Stem Cell Transplantation in XIAP Deficiency Using Reduced-Intensity Conditioning.

Hematopoietic stem cell transplantation (HSCT) is currently the only available curative therapy for X-linked inhibitor of apoptosis (XIAP) deficiency. Myeloablative conditioning regimens are associated with high mortality rates. Reduced-intensity conditioning (RIC) is recommended in order to decrease treatment-related toxicities, but RIC regimens increase the risk for mixed donor-recipient chimerism that may progress to graft loss. We report our experience with a patient with XIAP deficiency who was successfully treated with allogeneic HSCT using a RIC protocol. Post-transplant chimerism was vigilantly monitored and maintained with donor lymphocyte infusions and a stem cell boost to a level that prevented hemophagocytic lymphohistiocytosis recurrence.

Rare Presentations of Epstein-Barr Virus--Associated Smooth Muscle Tumor in Children.

Epstein-Barr virus (EBV) has oncogenic potential and has been implicated in the etiology of a wide range of malignancies. Certain EBV-driven neoplasms, such as smooth muscle tumors (SMTs), manifest typically in immunocompromised patients. In children, these neoplasms have been encountered in the setting of primary immune disorders, specifically severe combined and common variable immunodeficiency syndromes. Human immunodeficiency virus infection and posttransplant immunosuppression, in particular liver and kidney transplantation, likewise increase the risk in the pediatric population. The location of these neoplasms appears related to the type of immunodeficiency: in acquired immunodeficiency syndrome they are frequently located intracranially or intraspinally, whereas after transplant they usually involve the liver or lung. We report 2 distinct cases of EBV-related SMT, unique through their coassociated immunosuppressive state or location: the 1st occurred in a patient with immunodeficiency secondary to NEMO gene mutation following hematopoietic stem cell transplantation; the 2nd developed in the orbit after heart transplant.