scholarly journals Posterior Fossa Arachnoid Cyst Masking a Delayed Diagnosis of Hyperparathyroidism in a Child

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
B. Dhamija ◽  
D. Kombogiorgas ◽  
I. Hussain ◽  
G. A. Solanki
Keyword(s):  
Differential Diagnosis ◽  
Primary Hyperparathyroidism ◽  
Posterior Fossa ◽  
Arachnoid Cyst ◽  
Hospital Admissions ◽  
Delayed Diagnosis ◽  
Visual Disturbance ◽  
Organ Damage ◽  
Presenting Symptoms ◽  
History Of

Background. Primary hyperparathyroidism in childhood is a very rare entity, often being diagnosed late after the onset of its presenting symptoms. It most commonly affects patients in their fourth decade of life and beyond. The inclusion of primary hyperparathyroidism in the differential diagnosis is necessary when evaluating patients presenting with nonspecific symptoms such as polyuria, fatigue, weight loss, abdominal pain, nausea, and vomiting.Methods. We report the case of an eleven-year-old girl presenting with three years history of headaches, visual disturbance, along with episodes of emotional lability. Neuroimaging confirmed a large posterior fossa arachnoid cyst. It was decided to manage this lesion conservatively with surveillance. Only after further hospital admissions with recurrent loss of consciousness, dizziness, and nausea to add to her already existing symptoms, a full biochemical and endocrine assessment was performed to look for more specific causes for her presentation. These pointed to a diagnosis of primary hyperparathyroidism.Conclusions. The inclusion of primary hyperparathyroidism in the differential diagnosis should be considered when evaluating paediatric patients presenting with nonspecific (neurological, gastrointestinal, and renal) symptoms in order to establish a prompt diagnosis of the disorder and to avoid severe complications of prolonged hypercalcaemia and end-organ damage.

scholarly journals Vascular Headache: A Presenting Symptom of Multiple Sclerosis

1989 ◽  
Vol 16 (1) ◽  
pp. 63-66 ◽  
Author(s):  
Mark S. Freedman ◽  
Trevor A. Gray
Keyword(s):  
Multiple Sclerosis ◽  
Differential Diagnosis ◽  
Posterior Fossa ◽  
Severe Headache ◽  
Prior History ◽  
Initial Attack ◽  
Vascular Headache ◽  
Neurological Signs ◽  
History Of ◽  
Type Headache

ABSTRACT:Vascular headache of migraine-type may be a presenting symptom of multiple sclerosis (MS), a condition usually not considered in the differential diagnosis of a severe headache accompanied by neurological signs. We reviewed records of 1,113 patients with MS seen from 1967-1987 and found 44 cases whose initial attack or subsequent exacerbations were heralded by a migraine-type headache. Twenty-seven patients had no prior history of migraine, and of these, 12 presented simultaneously with their first headache and MS attack. Twenty-three patients had symptoms of a posterior fossa mass lesion. The significance of these results and possible pathogenesis is discussed.

scholarly journals SAT-370 Novel CASR Gene Mutation as a Cause of Familial Isolated Primary Hyperparathyroidism

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Andrea K Juneau ◽  
Adwoa Opoku-Boateng ◽  
Gabriel Ikponmosa Uwaifo
Keyword(s):  
Family History ◽  
Primary Hyperparathyroidism ◽  
Hospital Admissions ◽  
Novel Mutation ◽  
Pituitary Tumors ◽  
Loss Of Function ◽  
Casr Gene ◽  
Gene Testing ◽  
Calcium Sensing ◽  
History Of

Abstract BACKGROUND: Primary hyperparathyroidism (pHT) is one of the most common causes of hypercalcemia. About 10% of these patients have a familial cause of which MEN and the hyperparathyroid-jaw tumor syndrome (HJTs) are most common. Familial hypocalciuric hypercalcemia (FHH) due to loss of function mutations of the calcium sensing receptor (CASR) gene is an important familial mimic of this that needs to be distinguished. Beyond this are still a group of patients with familial isolated primary hyperparathyroidism (FIpHT). Recognition of this entity is important because of the different prognostic and surgical treatment strategy for their management compared to regular sporadic pHT. Clinical Case: A 58 yr old postmenopausal lady on topical HRT was referred for thyroid nodular disease. Her initial lab tests showed primary hyperparathyroidism with mild hypercalcemia. Her initial neck sonogram showed multiple benign appearing nodules that did not warrant biopsy. There was a history of hypothyroidism in her mother and thyroid cancer in a maternal cousin. In addition, her father and two sons have history of hypercalcemia that required repeated hospital admissions for treatment. Her two daughters to date have had no hypercalcemia, nephrolithiasis nor thyroid problems. There was no family history of jaw, renal nor brain or pituitary tumors and no history of severe dyspeptic disease nor familial cancers. She had hypercalciuria, normal bone density and non-obstructive nephrolithiasis. MEN-1 gene testing was normal. Parathyroid scan suggested a possible right sided parathyroid lesion and she had elective parathyroidectomy of an ectopic right parathyroid that was hypercellular on histology. The intra-operative PTH dropped following the lesion extraction by ~ 51%. Post operatively the patient’s mild pHT and hypercalcemia persists but imaging studies have been unrevealing. Further genetic testing for other possible etiologies of familial pHT were -ve for HJTs but revealed a novel somatic mutation of the CASR gene; c.1868G>A (p.Gly623Asp) whose present significance is unclear. This variant has been described in one family with FHH but In silico predictive analyses of the mutation suggests a possible deleterious effect. Given her known family history of symptomatic hypercalcemia this novel mutation appears to be a hitherto unrecognized cause for FIpHT. The patient is presently being conservatively managed and monitored. Conclusion: While familial pHT is relatively uncommon its recognition is important as it can inform planned surgical intervention and expected prognosis for anticipated cure. While MEN and HJTs are the most common etiologies for familial pHT other possibilities need to considered when the history suggests possible FIpHT and our case highlights a novel CASR mutation as diagnostic consideration.

Transventricular Endoscopic Fenestration of Intrasellar Arachnoid Cyst

Neurosurgery ◽  
2012 ◽  
Vol 72 (4) ◽  
pp. 520-528 ◽  
Author(s):  
Kyu-Won Shim ◽  
Eun-Kyung Park ◽  
Yun-Ho Lee ◽  
Sun-Ho Kim ◽  
Dong-Seok Kim
Keyword(s):  
Diabetes Insipidus ◽  
Arachnoid Cyst ◽  
Simple Procedure ◽  
Visual Disturbance ◽  
Magnetic Resonance Images ◽  
Arachnoid Cysts ◽  
Cerebrospinal Fluid Leakage ◽  
Presenting Symptoms ◽  
Endoscopic Fenestration

Abstract BACKGROUND: To manage arachnoid cysts, incorporation with the normal circulation is the single most important determinant of success. Although the postoperative cerebrospinal fluid leakage rate is 3.9% for all cases of transsphenoidal surgery, it is 21.4% for intrasellar arachnoid cysts. OBJECTIVE: To present a safe, relatively easy, and effective treatment option for very rare intrasellar arachnoid cysts. METHODS: We performed a prospective study of intrasellar cystic lesions without a solid portion. Endoscopic exploration and fenestration were performed for all lesions under neuronavigational guidance. We analyzed presenting symptoms, endocrinological status, and magnetic resonance images. RESULTS: There were 2 male and 4 female patients with a mean age of 45 years (range, 27–67 years). All patients presented with the visual disturbance of bitemporal hemianopsia. Four patients had endocrinological symptoms including galactorrhea, dysmenorrhea, and diabetes insipidus. Endoscopic fenestration of the cyst was successfully performed in all patients. All patients were confirmed to have a pure cystic lesion, namely an arachnoid cyst. The follow-up period was 10 months on average (range, 6–12 months). Visual disturbance improved in 5 patients. Endocrinological problems persisted in all patients for 3 months and then normalized, with the exception of the patient with diabetes insipidus. There was no evidence of recurrence in any of the 6 patients in the 12-month postoperative imaging studies (median follow-up of 10 months). Two patients showed syndrome of inappropriate antidiuretic hormone at 2 and 4 weeks after the operation, but antidiuretic hormones recovered to normal levels after this time point. CONCLUSION: Endoscopic fenestration of an intrasellar arachnoid cyst is a safe and simple procedure without serious complications.

A differential diagnosis in postural headache: herniation of a giant posterior fossa arachnoid cyst

2008 ◽  
Vol 26 (2) ◽  
pp. 247.e1-247.e3 ◽  
Author(s):  
Kuan-Che Lu ◽  
Chun-Chieh Chao ◽  
Tzong-Luen Wang ◽  
Chee-Fah Chong ◽  
Chien-Chih Chen
Keyword(s):  
Differential Diagnosis ◽  
Posterior Fossa ◽  
Arachnoid Cyst ◽  
Postural Headache

scholarly journals A Case of Torticollis in an 8-Month-Old Infant Caused by Posterior Fossa Arachnoid Cyst: An Important Entity for Differential Diagnosis

2021 ◽  
Vol 13 (2) ◽  
pp. 197-202
Author(s):  
John K. Yue ◽  
Taemin Oh ◽  
Kasey J. Han ◽  
Diana Chang ◽  
Peter P. Sun
Keyword(s):  
Differential Diagnosis ◽  
Brain Imaging ◽  
Posterior Fossa ◽  
Clinical Diagnosis ◽  
Arachnoid Cyst ◽  
Cerebellopontine Angle ◽  
Unusual Case ◽  
Female Infant ◽  
New Onset

Torticollis is a clinical diagnosis with heterogeneous causes. We present an unusual case of acquired torticollis in an 8-month-old female infant with a large cerebellopontine angle arachnoid cyst. Symptoms resolved after surgical fenestration. Non-traumatic acquired or new-onset torticollis requires brain imaging, and posterior fossa lesions are an important entity in the differential for pediatric clinicians.

scholarly journals Angiomyomatous hamartoma of subglottic tracheal wall in a 12-year-old adolescent: a case report

2022 ◽  
Vol 16 (1) ◽  
Author(s):  
Elvin M. Mendez
Keyword(s):  
Differential Diagnosis ◽  
Skin Testing ◽  
Empiric Therapy ◽  
Normal Lung ◽  
Rare Presentation ◽  
Case Presentation ◽  
X Ray ◽  
Presenting Symptoms ◽  
Long Term Treatment ◽  
History Of

Abstract Background Allergic rhinitis is the most common allergic disease encountered in a primary care setting. Diagnosis is often made clinically based on response to empiric therapy. However, with long-term treatment failure and/or atypical disease presentation, a differential diagnosis should be considered. The following is a report of an unusual and rare presentation of a subglottic tracheal angiomyomatous hamartoma in an adolescent, treated for many years as allergic rhinoconjunctivitis and asthma. Case presentation A 12-year-old Caucasian was referred to the allergy clinic with a lifetime history of bronchospasms and rhinoconjunctivitis symptoms, treated for many years for asthma and environmental allergies. Cough, posterior nasal drainage, self-described “choking on phlegm,” and a sensation of “a flap in the throat,”, worsened 5 months prior to the initial evaluation. Puncture skin testing for common environmental allergens was negative. Spirometry, performed due to history of chronic cough, showed blunting of the forced expiratory phase. A chest X-ray, immediately ordered to rule out possible extrapulmonary obstruction, showed bilateral bibasilar infiltrates. A noncontrast computerized tomographic scan of the chest, ordered to further elucidate X-ray findings, revealed a subglottic tracheal mass. Following a subsequent transfer and admission to a tertiary hospital center, microlaryngoscopy, bronchoscopy, and microsuspension laryngoscopy were performed to remove the tracheal mass. Pathology confirmed squamous mucosa with polypoid angiomyomatous changes and chronic inflammatory features consistent with angiomyomatous hamartoma. Surgical intervention was successful, and follow-up 1 year postoperatively revealed a healthy, asymptomatic adolescent child with normal lung function. Conclusions Although posterior nasal drainage and cough are typical presenting symptoms in the general patient population, they may be clinically impactful as they could disguise more serious medical conditions. A detailed history and careful physical examination may provide a high index of suspicion of disease, and can help work the differential diagnosis. This case presentation is the first documentation of subglottic hamartoma reported in the pediatric literature with clinical manifestation of environmental allergy and asthma symptoms.

Posterior fossa arachnoid cyst presenting with isolated sensorineural hearing loss

2006 ◽  
Vol 120 (11) ◽  
pp. 979-982 ◽  
Author(s):  
T Thinakara-Rajan ◽  
A Janjua ◽  
V Srinivasan
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Posterior Fossa ◽  
Arachnoid Cyst ◽  
English Literature ◽  
Sensorineural Hearing ◽  
Arachnoid Cysts ◽  
Resonance Imaging ◽  
Presenting Symptoms ◽  
Cranial Fossa

Arachnoid cysts are benign cysts occurring in the intra-arachnoid space and containing cerebrospinal fluid. They constitute approximately 1 per cent of all intracranial masses. They are uncommon in the posterior cranial fossa. Common presenting symptoms include headaches, seizures, focal neurologic signs and vague dizziness. Magnetic resonance imaging is the preferred method of investigation, and the treatment for symptomatic cysts is generally surgical drainage.We report the unusual presentation of a young patient with a posterior fossa arachnoid cyst that manifested in the form of isolated unilateral sensorineural hearing loss. The patient underwent posterior fossa craniotomy and marsupialization of the cyst. To our knowledge, posterior fossa arachnoid cyst presenting with isolated hearing loss alone has not been reported in the English literature. A review of the literature pertaining to posterior fossa arachnoid cysts, including the clinical features, diagnosis and management, is also presented.

scholarly journals Arachnoid cyst resulting in tonsillar herniation and syringomyelia in a patient with achondroplasia

2005 ◽  
Vol 19 (5) ◽  
pp. 1-7 ◽  
Author(s):  
Andrew M. Bauer ◽  
Diane M. Mueller ◽  
John J. Oró
Keyword(s):  
Mr Imaging ◽  
Arachnoid Cyst ◽  
Chiari Malformation ◽  
Pediatric Population ◽  
Foramen Magnum ◽  
Tonsillar Herniation ◽  
Residual Symptoms ◽  
Presenting Symptoms ◽  
Suboccipital Craniectomy ◽  
History Of

Achondroplasia has been associated with varying degrees of cervicomedullary and spinal compression, although usually in the pediatric population. Large arachnoid cysts have also been found to result in tonsillar herniation and syringomyelia. The authors present the case of a patient with achondroplasia who presented with symptoms of foramen magnum compression and syringomyelia, and who was subsequently found to have a large posterior fossa arachnoid cyst. This 38-year-old woman with achondroplasia presented with an 8-month history of headache and numbness of the hands and fingers. Admission magnetic resonance (MR) imaging of the head and spine revealed a large arachnoid cyst in the posterior cranial fossa, a 6-mm tonsillar herniation consistent with an acquired Chiari malformation, and a large cervicothoracic syrinx. The patient was treated using suboccipital craniectomy, C-1 laminectomy, fenestration of the arachnoid cyst, and decompression of the acquired Chiari malformation with duraplasty. Surgical decompression resulted in improvement of the presenting symptoms, adequate decompression of crowding at the foramen magnum, and resolution of the syrinx. Although there was only partial reduction in the retrocerebellar cisternal space on follow-up MR imaging, no residual symptoms were related to this.

scholarly journals Familial Hypocalciuric Hypercalcemia in an Index Male: Grey Zones of the Differential Diagnosis From Primary Hyperparathyroidism in a 13-Year Clinical Follow up

2020 ◽  
pp. S321-S328
Author(s):  
K. ZAJÍČKOVÁ ◽  
M. DVOŘÁKOVÁ ◽  
J. MORAVCOVÁ ◽  
J. VČELÁK ◽  
D. GOLTZMAN
Keyword(s):  
Differential Diagnosis ◽  
Family History ◽  
Primary Hyperparathyroidism ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Clearance Ratio ◽  
Japanese Family ◽  
Casr Gene ◽  
History Of ◽  
Inactivating Mutation

Familial hypocalciuric hypercalcemia (FHH) type 1, caused by a heterozygous inactivating mutation of the gene encoding the calcium-sensing receptor (CaSR), is characterized by mild to moderate hypercalcemia, hypocalciuria and inappropriately normal or elevated parathyroid hormone (PTH). FHH must be differentiated from primary hyperparathyroidism (PHPT) because parathyroidectomy is ineffective in the former. Herein, we report a 39-year-old male patient with a 13-year history of asymptomatic PTH-dependent hypercalcemia (mean calcium of 2.88 mmol/l; reference range 2.15-2.55 mmol/l) and calcium-to-creatinine clearance ratio (Ca/Cr) ranging from 0.007 to 0.0198, which is consistent with either FHH or PHPT. Although a family history of hypercalcemia was negative, and PET-CT with fluorocholine was suggestive of a parathyroid adenoma, genetic analysis of the CaSR gene identified a heterozygous inactivating mutation NM_000388.4:c.1670G>A p. (Gly557Glu) in exon 6 and a polymorphism NM_000388.4:c.1192G>A p. (Asp398Asn) in exon 4. The G557E mutation has been previously reported in a Japanese family in which all family members with the mutation had Ca/Cr below 0.01 consistent with FHH. The biochemical profile of FHH and PHPT may overlap. Our FHH patient with a G557E CaSR mutation illustrates that the differential diagnosis can be difficult in an index case with no family history, (false) positive parathyroid imaging and higher calciuria than expected for FHH. Calcium intake, vitamin D status and bone resorption might have contributed to the Ca/Cr variations over a 13-year clinical follow up. This case thus emphasizes the irreplaceable role of genetic testing of the CaSR gene when clinical evaluation is inconclusive.

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