scholarly journals A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma

2019 ◽  
Vol 67 (3) ◽  
Author(s):  
Jacquelyn N. Crane ◽  
Vivian Y. Chang ◽  
William H. Yong ◽  
Noriko Salamon ◽  
Jessica Kianmahd ◽  
...  
Keyword(s):  
Case Report ◽  
Sonic Hedgehog ◽  
Gnas Mutation

scholarly journals Mature salivary gland rests within sonic hedgehog–positive medulloblastoma: case report and insights into the molecular genetics and embryopathology of ectopic intracranial salivary gland analogs

2016 ◽  
Vol 18 (6) ◽  
pp. 708-712 ◽  
Author(s):  
Berje Shammassian ◽  
Sunil Manjila ◽  
Efrem Cox ◽  
Kaine Onwuzulike ◽  
Dehua Wang ◽  
...  
Keyword(s):  
Salivary Gland ◽  
Case Report ◽  
Salivary Glands ◽  
Molecular Genetics ◽  
Posterior Fossa ◽  
Sonic Hedgehog ◽  
Unique Case ◽  
Cerebellar Medulloblastoma ◽  
Disseminated Disease

Intracranial ectopic salivary gland rests within dural-based lesions are reported very infrequently in the literature. The authors report the unique case of a 12-year-old boy with a cerebellar medulloblastoma positive for sonic hedgehog (Shh) that contained intraaxial mature ectopic salivary gland rests. The patient underwent clinical and radiological monitoring postoperatively, until he died of disseminated disease. An autopsy showed no evidence of salivary glands within disseminated lesions. The intraaxial presence of salivary gland rests and concomitant Shh positivity of the described tumor point to a disorder in differentiation as opposed to ectopic developmental foci, which are uniformly dural based in the described literature. The authors demonstrate the characteristic “papilionaceous” appearance of the salivary glands with mucicarmine stain and highlight the role of Shh signaling in explaining the intraaxial presence of seromucous gland analogs. This article reports the first intraaxial posterior fossa tumor with heterotopic salivary gland rests, and it provides molecular and embryopathological insights into the development of these lesions.

scholarly journals Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation

2018 ◽  
Vol 6 (10) ◽  
pp. 1933-1940
Author(s):  
Valérie Leclercq ◽  
Valérie Benoit ◽  
Damien Lederer ◽  
Melanie Delaunoy ◽  
Marcela Ruiz ◽  
...  
Keyword(s):  
Case Report ◽  
Albright Hereditary Osteodystrophy ◽  
Gnas Mutation

scholarly journals Subcutaneous Calcification and Fixed Flexion Deformity of the Right Elbow Joint in a Child with a GNAS Mutation, the First Case Report

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Hussain Alsaffar ◽  
Najya Attia ◽  
Senthil Senniappan
Keyword(s):  
Case Report ◽  
Parathyroid Hormone ◽  
Elbow Joint ◽  
Flexion Deformity ◽  
First Case ◽  
History Of ◽  
The Right ◽  
Subcutaneous Calcification ◽  
Gnas Mutation ◽  
Fixed Flexion Deformity

Introduction: The art of medicine glorifies when a clinician listens carefully to the patient’s story, gives a thorough examination, performs appropriate investigations, and finally links findings together to reach a definite diagnosis. An interesting case was reported here, highlighting the integration of different symptoms and manifestations with some relevant biochemical investigations to reach a final diagnosis. To the best of our knowledge, fixed flexion deformity, as a complication of subcutaneous calcification, has not been previously reported in a child with Albright hereditary osteodystrophy (AHO). Case Presentation: A 2.5-year-old boy was born at term with a birth weight of 3.5 kg (-0.49 SDS). The child was referred to a general pediatrician with a history of right elbow joint swelling noticed initially at six months of age. He then developed the limitation of right upper arm movement, which slowly progressed afterward. The patient had no history of trauma. At nine months of age, he was diagnosed with hypothyroidism, preceded by cold skin, dry hair, and constipation. At nine years of age, he presented with a fixed flexion deformity of the right elbow, associated with markedly limited joint movement and symmetrical hands with hyperpigmented knuckles of right metacarpal bones. Subcutaneous masses were felt along the right forearm, showing tenderness on palpation. Investigations revealed elevated serum parathyroid hormone and normal calcium, indicating parathyroid hormone resistance. Further genetic testing revealed GNAS mutation. The child was obese throughout his childhood. Conclusions: This case report describes an obese child with subcutaneous calcification that led to fixed flexion deformity of the elbow, starting at an incredibly early age. Hypothyroidism and pseudohypoparathyroidism raised the suspicion of AHO, which was later confirmed by genetic testing. This is the first case report on fixed flexion deformity in a patient with GNAS mutation (c.719-1G > A Chr20: 57484737) in West Asia.

Case Report of Unilateral Clefting: Is Sonic Hedgehog to Blame?

2007 ◽  
Vol 10 (2) ◽  
pp. 117-120 ◽  
Author(s):  
Meghan Delaney ◽  
Theonia K. Boyd
Keyword(s):  
Case Report ◽  
Sonic Hedgehog

Case Report of Unilateral Clefting: Is Sonic Hedgehog to Blame?

2006 ◽  
Vol preprint (2007) ◽  
pp. 1
Author(s):  
Meghan Delaney ◽  
Theonia Boyd
Keyword(s):  
Case Report ◽  
Sonic Hedgehog

scholarly journals Case Report: Identification of a Novel GNAS Mutation and 1p/22q Co-Deletion in a Patient With Multiple Recurrent Meningiomas Sensitive to Sunitinib

2021 ◽  
Vol 11 ◽  
Author(s):  
Weiping Hong ◽  
Changguo Shan ◽  
Minting Ye ◽  
Yanying Yang ◽  
Hui Wang ◽  
...  
Keyword(s):  
Case Report ◽  
Potential Role ◽  
Molecular Classification ◽  
Who Grade ◽  
Case Presentation ◽  
Grade Ii ◽  
Residual Lesions ◽  
Generation Sequencing ◽  
Gnas Mutation

BackgroundAlthough surgical resection can cure the majority of meningiomas, there are still approximately 20% of patients suffering from an aggressive course with recurrence or progression. In this study, we reported a novel GNAS mutation and 1p/22q co-deletion responding to sunitinib in a patient with multiple recurrent meningiomas.Case PresentationA 53-year-old woman with meningioma was hospitalized due to postoperative tumor progression for 3 weeks. WHO grade I meningioma was pathologically diagnosed after the first three surgeries, but the second recurrence occurred approximately 3 years following the third surgery. Next-generation sequencing was performed on the first two recurrent samples. GNAS mutations and 1p/22q co-deletion were both identified, and amplification at 17q and chromosome 19 was also found in the second recurrent sample, based on which WHO grade II/III meningioma was diagnosed. The lesion in the left cerebellopontine angle area enlarged after use of radiotherapy combined with temozolomide chemotherapy for 2 months. When sunitinib was added, the residual lesions began to lessen and continuously reduced.ConclusionThis typical case suggested that timely molecular diagnosis for refractory meningiomas contributed to guiding the molecular classification and clinicians to make more reasonable individualized therapeutic regimens, consequently benefiting the patients. This case report also highlighted the potential role of sunitinib in the treatment of refractory meningiomas.

scholarly journals Ectopic expression of Sonic Hedgehog in a cryptorchid man with azoospermia: A case report

2014 ◽  
Vol 42 (2) ◽  
pp. 589-597 ◽  
Author(s):  
Shasha Zou ◽  
Yanan Wang ◽  
Tingting Chen ◽  
Pingping Song ◽  
Daiying Xin ◽  
...  
Keyword(s):  
Case Report ◽  
Sonic Hedgehog ◽  
Ectopic Expression

Misophonia: An Evidence-Based Case Report

2020 ◽  
Vol 29 (4) ◽  
pp. 685-690
Author(s):  
C. S. Vanaja ◽  
Miriam Soni Abigail
Keyword(s):  
Quality Of Life ◽  
Case Report ◽  
Case History ◽  
Pure Tone ◽  
Physiological Responses ◽  
Evidence Based ◽  
Management Option ◽  
Pure Tone Audiogram

Purpose Misophonia is a sound tolerance disorder condition in certain sounds that trigger intense emotional or physiological responses. While some persons may experience misophonia, a few patients suffer from misophonia. However, there is a dearth of literature on audiological assessment and management of persons with misophonia. The purpose of this report is to discuss the assessment of misophonia and highlight the management option that helped a patient with misophonia. Method A case study of a 26-year-old woman with the complaint of decreased tolerance to specific sounds affecting quality of life is reported. Audiological assessment differentiated misophonia from hyperacusis. Management included retraining counseling as well as desensitization and habituation therapy based on the principles described by P. J. Jastreboff and Jastreboff (2014). A misophonia questionnaire was administered at regular intervals to monitor the effectiveness of therapy. Results A detailed case history and audiological evaluations including pure-tone audiogram and Johnson Hyperacusis Index revealed the presence of misophonia. The patient benefitted from intervention, and the scores of the misophonia questionnaire indicated a decrease in the severity of the problem. Conclusions It is important to differentially diagnose misophonia and hyperacusis in persons with sound tolerance disorders. Retraining counseling as well as desensitization and habituation therapy can help patients who suffer from misophonia.

Intensive Stuttering Therapy With Telepractice Follow-up: A Case Study

2011 ◽  
Vol 21 (1) ◽  
pp. 11-21 ◽  
Author(s):  
Farzan Irani ◽  
Rodney Gabel
Keyword(s):  
Case Report ◽  
Therapeutic Intervention ◽  
Intensive Therapy ◽  
Positive Outcome ◽  
Eclectic Approach

This case report describes the positive outcome of a therapeutic intervention that integrated an intensive, residential component with follow-up telepractice for a 21 year old male who stutters. This therapy utilized an eclectic approach to intensive therapy in conjunction with a 12-month follow-up via video telepractice. The results indicated that the client benefited from the program as demonstrated by a reduction in percent stuttered syllables, a reduction in stuttering severity, and a change in attitudes and feelings related to stuttering and speaking.

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