Bilateral Vestibular Schwannomas in a Patient with Ring Chromosome 22: Case Report and Review of the Literature

2021 ◽  
pp. 1-5
Author(s):  
Penelope E. Nussbaum ◽  
Puja D. Patel ◽  
Leslie A. Nussbaum ◽  
Christopher W. Hilton ◽  
Eric S. Nussbaum
Keyword(s):  
Ring Chromosome ◽  
Sudden Hearing Loss ◽  
Vestibular Schwannomas ◽  
Warning Sign ◽  
Chromosome 22 ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Development Delay ◽  
History Of ◽  
Fractionated Stereotactic Radiosurgery

<b><i>Introduction:</i></b> Ring chromosome 22 (r[22]) can lead to the development of intracranial tumors such as meningiomas, neurofibromas, and schwannomas similar to neurofibromatosis 2 (NF2). <b><i>Case Presentation:</i></b> An 18-year-old female with r(22) and a history of global development delay and cognitive impairment presented with sudden hearing loss. MRI revealed bilateral vestibular schwannomas. Given documented audiologic decline in the patient’s hearing, the larger tumor was treated with CyberKnife fractionated stereotactic radiosurgery, and the smaller tumor is being monitored. <b><i>Conclusion:</i></b> This case provides further evidence that patients with r(22) can develop clinical features of NF2, including the development of bilateral vestibular schwannomas, and should be monitored for hearing disturbances starting in puberty as a warning sign for these tumors.

scholarly journals A Case Report of Malaria-associated Secondary Hemophagocytic Lymphohistiocytosis and a Review of the Literature

2020 ◽  
Author(s):  
Xiao Zhou ◽  
Meili Duan
Keyword(s):  
Intensive Care ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Multidisciplinary Approach ◽  
Review Of The Literature ◽  
Intermittent Fever ◽  
Case Presentation ◽  
Satisfactory Outcome ◽  
History Of ◽  
Secondary Hemophagocytic Lymphohistiocytosis

Abstract Background: Malaria-associated secondary hemophagocytic lymphohistiocytosis (HLH) is rare. Moreover, the literature on malaria-associated HLH is sparse, and there are no similar cases reported in China.Case presentation: We report a case of a 29-year-old young woman with unexplained intermittent fever who was admitted to our hospital due to an unclear diagnosis. The patient concealed her history of travel to Nigeria and Dubai before onset. We made a diagnosis of malaria-associated secondary HLH. The treatment strategy for the patient included treatment of the inciting factor (artemether for 9 days followed by artemisinin for 5 days), the use of immunosuppressants (steroids, intravenous immunoglobulin) and supportive care. The patient was discharged in normal physical condition after 25 days of intensive care. No relapses were documented on follow-up at six months and 1 year. Conclusion: Early diagnosis of the primary disease along with timely intervention and a multidisciplinary approach can help patients achieve a satisfactory outcome.

scholarly journals Leptomeningeal Cyst in the Adult: Case Report and Review of the Literature

2021 ◽  
pp. 1-3
Author(s):  
Paula Pilar Morales Cejas ◽  
Paula Pilar Morales Cejas ◽  
Yanire Sánchez Medina ◽  
Marta García Berrocal ◽  
Luis Francisco Gómez Perals
Keyword(s):  
Case Report ◽  
Rare Complication ◽  
Review Of The Literature ◽  
Adult Case ◽  
Leptomeningeal Cyst ◽  
Case Presentation ◽  
Affected Area ◽  
Previous Trauma ◽  
History Of ◽  
Childhood Fractures

Background: Leptomeningeal cysts are a rare complication of childhood fractures, being very rare in adulthood and usually related to previous trauma generated in children. Case Presentation: We present a case of “growing fracture” in a 70-year-old woman with a history of head injury in childhood, who clinically debuted with paresthesia-dysesthesia in the left hemicranium and hypersensitivity and pain in the affected area, and who was treated with surgical treatment. Conclusion: We review the pathogenesis, diagnosis and treatment of this injury today.

Concomitant 3q13.31 Microdeletion and Ring Chromosome 22 in a Patient with Severe Developmental Delay, Ventriculomegaly, and Dandy-walker Malformation

2017 ◽  
Vol 41 (S1) ◽  
pp. S167-S167
Author(s):  
A. Kashevarova ◽  
E. Belyaeva ◽  
N. Skryabin ◽  
S. Vasilyev ◽  
M. Lopatkina ◽  
...  
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Ring Chromosome ◽  
Copy Number Variations ◽  
Speech Development ◽  
Chromosome 22 ◽  
Russian Science ◽  
Development Delay ◽  
Conventional Cytogenetics ◽  
Walker Malformation

IntroductionOver 20% of patients with developmental delay (DD) has copy number variations (CNV) of unknown significance. Some CNV may be associated with disease in a patient and also present in their apparently healthy parents. According to the two-hit model another CNV may contribute to phenotypic variation of such genomic disorders.ObjectivesDD diagnostics improvement.AimsUnderstanding the pathogenic significance of concomitant 3q13.31 and 22q13.32-q13.33 microdeletions.MethodsRing chromosome 22 was first detected by conventional cytogenetics. Microdeletions at 3q13.31 and 22q13.32–q13.33 were revealed by agilent technologies 60 K microarray and confirmed by qPCR. Ring chromosome was confirmed by FISH.ResultsWe present a four-year-old girl with del22q13.32-q13.33 resulted in a ring chromosome 22 and a single TUSC7 gene microdeletion at 3q13.31. The del22q13.32-q13.33 originated de novo, whereas del3q13.31 was inherited from healthy mother. The 22q13.32-q13.33 locus is associated with Phelan-McDermid syndrome (PHMDS, OMIM 606232). The patient demonstrated features both typical for the syndrome (psychomotor and speech development delay, autistic signs, aggression, sleep alteration, seizures) and atypical – attention deficit-hyperactivity disorder (ADHD), ventriculomegaly, and reduced size of cerebella hemispheres (Dandy-Walker variant). ADHD and ventriculomegaly were previously described in patients with del3q13.31 (OMIM 615433) but Dandy-Walker variant was observed in our patient for the first time. Possibly, atypical for PHMDS features, may result from trans-epistasis of microdeletions.ConclusionsMultiple CNVs in one patient complicate genotype-phenotype correlations due to possible overlapping phenotypes and/or modifying effect of variants. This study was supported by Russian Science Foundation, grant no. 16-15-10231.

scholarly journals Ring Chromosome 22: A Review of the Literature and First Report from India

2012 ◽  
Vol 15 (1) ◽  
pp. 55-59
Author(s):  
S Mahajan ◽  
A Kaur ◽  
J Singh
Keyword(s):  
Intellectual Disability ◽  
Ring Chromosome ◽  
Male Child ◽  
Chromosome 22 ◽  
Review Of The Literature ◽  
First Report ◽  
Cytogenetic Finding

Ring Chromosome 22: A Review of the Literature and First Report from IndiaRing chromosome 22 [r(22)], a rare cytogenetic finding, has been described in nearly 70 cases to date. Cytogenetic investigations were carried out on a 5-year-old male child with microcephaly and intellectual disability. Cytogenetic investigations revealed his karyotype to be 46, XY, r(22). To the best of our knowledge, this is the first report of an r(22) anomaly from India.

scholarly journals Recurrent Volvulus during Pregnancy: Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Layan Alrahmani ◽  
Jaclyn Rivington ◽  
Carl H. Rose
Keyword(s):  
Case Report ◽  
Laparoscopic Resection ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Previous Pregnancy ◽  
Gastrointestinal Obstruction ◽  
Common Etiology ◽  
History Of ◽  
Colonoscopic Decompression ◽  
Colon Volvulus

Introduction. Sigmoid colon volvulus (SV) represents the most common etiology of antepartum gastrointestinal obstruction, with repetitive antepartum episodes rarely reported. Case Presentation. A 25-year-old multiparous patient with history of SV at 26 weeks in her previous pregnancy presented with recurrent episodes of SV at 32 0/7, 32 4/7, 37 0/7, and 38 1/7 weeks successfully managed with colonoscopic decompression. Labor was successfully induced at 38 4/7 weeks, and she experienced two further episodes on postpartum days #1 and #32 also treated with colonoscopic decompression, followed by laparoscopic resection. Conclusion. Successful treatment of antepartum SV with colonoscopic decompression does not preclude recurrence later in gestation and in future pregnancies.

scholarly journals Severe Hyperthyroidism Complicated by Agranulocytosis Treated with Therapeutic Plasma Exchange: Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Vishnu Garla ◽  
Karthik Kovvuru ◽  
Shradha Ahuja ◽  
Venkatataman Palabindala ◽  
Bharat Malhotra ◽  
...  
Keyword(s):  
Plasma Exchange ◽  
Complete Blood Count ◽  
Therapeutic Plasma Exchange ◽  
Graves Disease ◽  
Thyroid Function Tests ◽  
Review Of The Literature ◽  
Case Presentation ◽  
History Of

Aim. To present a case of Graves’ disease complicated by methimazole induced agranulocytosis treated with therapeutic plasma exchange (TPE) and review of the literature. Case Presentation. A 21-year-old patient with a history of Graves’ disease presented to the endocrine clinic. His history was significant for heat intolerance, weight loss, and tremors. Upon examination he had tachycardia, smooth goiter, thyroid bruit, and hyperactive reflexes. He was started on methimazole and metoprolol and thyroidectomy was to be done once his thyroid function tests normalized. On follow-up, the patient symptoms persisted. Complete blood count done showed a white blood cell count of 2100 (4000–11,000 cells/cu mm) with a neutrophil count of 400 cells/cu mm, consistent with neutropenia. He was admitted to the hospital and underwent 3 cycles of TPE and was also given filgrastim. He improved clinically and his thyroxine (T4) levels also came down. Thyroidectomy was done. He was discharged on levothyroxine for postsurgical hypothyroidism. Conclusion. Plasmapheresis may be useful in the treatment of hyperthyroidism. It works by removing protein bound hormones and also possibly inflammatory cytokines. Further studies are needed to clarify the role of various modalities of TPE in the treatment of hyperthyroidism.

scholarly journals Mandibular Brown Tumor as a Result of Secondary Hyperparathyroidism: A Case Report with 5 Years Follow-Up and Review of the Literature

2021 ◽  
Vol 18 (14) ◽  
pp. 7370
Author(s):  
Veronika Shavlokhova ◽  
Benjamin Goeppert ◽  
Matthias M. Gaida ◽  
Babak Saravi ◽  
Frederic Weichel ◽  
...  
Keyword(s):  
Secondary Hyperparathyroidism ◽  
Lupus Erythematosus ◽  
Radical Resection ◽  
Disease Stage ◽  
Brown Tumor ◽  
Review Of The Literature ◽  
Case Presentation ◽  
History Of ◽  
Skeletal Manifestation

Background: Brown tumor is a rare skeletal manifestation of secondary hyperparathyroidism. Although diagnosis of the disease is increasingly seen in early stages due to improved screening techniques, some patients still present in a progressed disease stage. The treatment depends on tumor mass and varies from a conservative approach with supportive parathyroidectomy to extensive surgical resection with subsequent reconstruction. Case presentation: We report a case of extensive mandibular brown tumor in a patient with a history of systemic lupus erythematosus, chronic kidney disease, and secondary hyperparathyroidism. Following radical resection of the affected bone, reconstruction could be successfully performed using a free flap. Conclusions: There were no signs of recurrence during five years of close follow-up. Increased awareness and multidisciplinary follow-ups could allow early diagnosis and prevent the need for radical therapeutical approaches.

Does Natural History of Vestibular Schwannomas Govern Treatment Response and Complications to Radiosurgery?

2013 ◽  
Vol 74 (S 01) ◽  
Author(s):  
Soroush Larjani ◽  
Hooman Pebdani ◽  
Eric Monsalves ◽  
Caroline Hayhurst ◽  
Boris Krischek ◽  
...  
Keyword(s):  
Natural History ◽  
Treatment Response ◽  
Vestibular Schwannomas ◽  
History Of
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