Diverse phenotype of hypokalaemic periodic paralysis within a family

2017 ◽  
Vol 18 (1) ◽  
pp. 60-65 ◽  
Author(s):  
Albi Jose Chalissery ◽  
Tudor Munteanu ◽  
Yvonne Langan ◽  
Francesca Brett ◽  
Janice Redmond
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Calcium Ion ◽  
Late Onset ◽  
Pathogenic Mutation ◽  
Periodic Paralysis ◽  
Initial Work ◽  
The Right ◽  
Work Up ◽  
Hypokalaemic Periodic Paralysis

Hypokalaemic periodic paralysis typically presents with intermittent mild-to-moderate weakness lasting hours to days. We report a case with an uncommon phenotype of late-onset myopathy without episodic paralytic attacks. Initial work-up including muscle biopsy was inconclusive. A subsequent review of the right deltoid biopsy, long exercise testing and repeated family history was helpful, followed by appropriate genetic testing. We identified a heterozygous pathogenic mutation in calcium ion channel (CACNA1S:c.1583G>A p.Arg528His) causing hypokalaemic periodic paralysis. Myopathy can present without episodic paralysis and the frequency of paralytic episodes does not correlate well with the development and progression of a fixed myopathy. Our report also highlights the intrafamilial phenotypic variation of hypokalaemic periodic paralysis secondary to a CACNA1S gene mutation.

scholarly journals HIPOKALEMIK PERIODIK PARALISIS

2018 ◽  
Vol 12 (1) ◽  
pp. 19
Author(s):  
Anik Widjajanti ◽  
S.M. Agustini
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Blood Count ◽  
Periodic Paralysis ◽  
Nutritional Conditions ◽  
The Family ◽  
History Of ◽  
Progressive Weakness ◽  
Hypokalaemic Periodic Paralysis ◽  
Low Serum

A 7-year-old boy of Java origin, visited the doctor with progressive weakness everytime he ate food containing Monosodium Glutamat (MSG). Progressive weakness began from his legs and spreaded to the arms as well (sometimes also to the neck). He could neither walk nor do anything for 5–6 hours then began to resolve spontaneously.. We suspected the diagnosis of hypokalaemic periodic paralysis upon the history of episodes of flacid paralysis and low serum concentration of potassium (< 3,5 mmol/L) during the attacts. The clinical examination showed that this boy is in good general and nutritional conditions; electrocardiogram, laboratory blood count, urinalisis, thyroid, liver, kidney function, and ANA test were normal as well. The family history of flacid paralysis was negative. We have promptly administered potassium orally and his condition was improved progressively including less degree of flacid paralysis (the weakness). A genetic testing, electromyography (EMG), muscle biopsy and another examination has not performed.

scholarly journals Crystalline Lens Resorption Caused by Ciliary Body Melanoma

2020 ◽  
Vol 13 (2) ◽  
pp. 497-500
Author(s):  
William M. Carrera ◽  
Matthew R. Denny ◽  
Michael I. Seider
Keyword(s):  
Genetic Testing ◽  
Early Detection ◽  
Ciliary Body ◽  
Crystalline Lens ◽  
Pathogenic Mutation ◽  
Posterior Subcapsular Cataract ◽  
Epithelioid Cells ◽  
The Right ◽  
Caucasian Female ◽  
Ciliary Body Melanoma

We report a case of a 51-year-old Caucasian female who presented with a ciliary body melanoma of the right eye leading to focal resorption of the crystalline lens and inducing posterior subcapsular cataract. She underwent successful enucleation, and histopathology demonstrated a ciliary body melanoma with a predominance of epithelioid cells and focal scleral extension. Genetic testing revealed a heterozygous, pathogenic mutation of BAP1 (c.1717delC, p.Leu573fs). Crystalline lens resorption is a rare but potentially important finding in ciliary body melanoma, as early detection of malignancy can be lifesaving.

Retroperitoneal Leiomyosarcoma of the Inferior Vena Cava Mimicking a Liver Tumor

2008 ◽  
Vol 74 (5) ◽  
pp. 433-436
Author(s):  
Julio Sokolich ◽  
Alejandro Mejia ◽  
Stephen Cheng ◽  
Ernest Dunn
Keyword(s):  
Inferior Vena Cava ◽  
Inferior Vena ◽  
Abdominal Cavity ◽  
Vena Cava ◽  
White Female ◽  
Primary Malignancy ◽  
Term Survival ◽  
Initial Work ◽  
The Right ◽  
Work Up

Leiomyosarcoma of the inferior vena cava (IVC) is a rare sarcoma, but it is the most common primary malignancy of the IVC. It has an extremely poor prognosis. We describe a 60-year-old white female complaining of abdominal fullness for 7 weeks before she sought medical assistance. Initial work-up including sonography, computed tomography, and magnetic resonance showed a tumor in the right upper quadrant of the abdominal cavity originating from the liver with compression of the IVC and displacement of the right kidney. The patient underwent surgical resection of the tumor with clear margins and reconstruction of the IVC using a Dacron tubular graft. Postoperatively, she was placed on Coumadin® and adjuvant chemotherapy was started. Subsequently, the patient developed metastasis into the liver and peripancreatic nodes during the follow-up period. Considering the aggressiveness of this tumor, early radical en block resection with clear margins is still the only chance for long-term survival.

scholarly journals Early Onset, Multiple, Bilateral Fibroadenomas of the Breast: A Case Report

2020 ◽  
Author(s):  
Cecilia Jung Im ◽  
Ashlie Miller ◽  
Rita A Mukhtar
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Early Onset ◽  
Breast Disease ◽  
Pathogenic Mutation ◽  
Cowden Syndrome ◽  
Breast Masses ◽  
Nccn Guidelines ◽  
Increased Risk ◽  
History Of

Abstract Background: While fibroadenomas are common in the general population, affecting 10-20% of women, they are rarely early onset, multiple, and bilateral. Case Presentation: An 18-year-old woman presented with a 6 year history of multiple, bilateral breast masses without family history of breast disease. Magnetic resonance imaging (MRI, Figure 1) of the breasts showed innumerable, bilateral breast masses ranging in size from 0.5 to 4 cm. Two needle biopsies showed fibroadenoma. Although the patient’s family history did not meet National Comprehensive Cancer Network (NCCN) guidelines for genetic testing, it was performed due to the rarity of her presentation. Genetic testing identified a pathogenic mutation in the phosphatase and tensin homolog (PTEN) gene. Conclusions: A germline mutation in PTEN is associated with an increased risk of breast cancer, and in many cases occurs as part of Cowden Syndrome. This case highlights the importance of genetic testing in patients with unusual presentations of early-onset, bilateral, and multiple (greater than four) fibroadenomas.

Pulmonary Hypertension

Chest Imaging ◽  
2019 ◽  
pp. 147-152
Author(s):  
Constantine Raptis
Keyword(s):  
Pulmonary Hypertension ◽  
Right Ventricle ◽  
Pulmonary Capillary Wedge Pressure ◽  
Pulmonary Capillary ◽  
Initial Work ◽  
The Right ◽  
Work Up ◽  
Wedge Pressure

Pulmonary hypertension (PH) is defined as a pulmonary capillary wedge pressure >25 mm Hg. Patients tend to present with nonspecific symptoms centered on worsening dyspnea. The causes of PH are classified according to the Dana Point classification which groups causes of PH based on shared pathophysiology and treatments. In the initial work up of patients with PH, the goal of imaging is determine if there are findings of PH and to look for clues to the underlying cause so that patients are treated appropriately. MRI can be useful in the follow up of patients with PH, as it can evaluate for changes in the right ventricle.

scholarly journals 102 Late-onset paradoxical reactions in neurotuberculosis presenting 18 months and 20 years after treatment

2019 ◽  
Vol 90 (e7) ◽  
pp. A33.2-A33
Author(s):  
Ruth Leadbetter ◽  
Timothy Blackmore ◽  
Ian Rosemergy
Keyword(s):  
Late Onset ◽  
Brain Biopsy ◽  
Parietal Lobes ◽  
Leg Weakness ◽  
T2 Hyperintensity ◽  
Diagnostic Work ◽  
The Right ◽  
Timing Of Onset ◽  
Work Up

IntroductionParadoxical reactions (PRs) during treatment of neurotuberculosis are common but late-onset PRs after completion of anti-tuberculous treatment are reported very rarely. The management of late-onset PRs is challenging as excluding other diagnoses is difficult without invasive testing.MethodsTwo cases of late-onset PRs after treatment for neurotuberculosis are reported. The timing of onset, clinical and radiological features of these PRs are described and the diagnostic work up and outcomes after empiric immunosuppression reviewed.ResultsA 24-year-old woman presented with right-sided focal motor seizures 18 months after receiving anti-tuberculous treatment for neurotuberculosis. MRI showed enlargement of a previous left frontal tuberculoma with extensive oedema. A biopsy was not performed as the lesion involved eloquent brain and the patient declined a lumbar puncture. She was treated empirically with corticosteroids for six months and had clinical and radiological improvement.A 56-year-old woman presented with left leg weakness and numbness 20 years after treatment for multiple cerebral tuberculomas. MRI showed a new confluent area of T2 hyperintensity in the right frontal and parietal lobes. Cerebrospinal fluid was negative for acid-fast bacilli. She was treated with corticosteroids for 2 months with progressive improvement.ConclusionsLate onset PRs to neurotuberculosis can occur months to years after completing anti-tuberculous therapy. Recognising this entity is important so unnecessary treatments and brain biopsy may be avoided. Empiric immunosuppression with corticosteroids appears to be safe if early follow up and repeat imaging is arranged.

scholarly journals Early onset, multiple, bilateral fibroadenomas of the breast: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Cecilia J. Im ◽  
Ashlie Miller ◽  
Ronald Balassanian ◽  
Rita A. Mukhtar
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Early Onset ◽  
Breast Disease ◽  
Pathogenic Mutation ◽  
Cowden Syndrome ◽  
Breast Masses ◽  
Nccn Guidelines ◽  
Increased Risk ◽  
History Of

Abstract Background While fibroadenomas are common in the general population, affecting 10–20% of women, they are rarely early-onset, multiple, and bilateral. Case presentation An 18-year-old woman presented with a 6 year history of multiple, bilateral breast masses without family history of breast disease. Magnetic resonance imaging (MRI, Fig. 1) of the breasts showed innumerable, bilateral breast masses ranging in size from 0.5 to 4 cm. Two needle biopsies showed fibroadenoma. Although the patient’s family history did not meet National Comprehensive Cancer Network (NCCN) guidelines for genetic testing, it was performed due to the rarity of her presentation. Genetic testing identified a pathogenic mutation in the phosphatase and tensin homolog (PTEN) gene. Conclusions A germline mutation in PTEN is associated with an increased risk of breast cancer and often occurs as part of Cowden Syndrome. This case highlights the importance of genetic testing in patients with unusual presentations of early-onset, bilateral, and multiple (greater than four) fibroadenomas.

Late-onset malignant glaucoma

2020 ◽  
Vol 3 ◽  
pp. 1
Author(s):  
Ramiro José Daud ◽  
Horacio Freile ◽  
Mauricio Freile ◽  
Soledad Mariano
Keyword(s):  
Intraocular Pressure ◽  
Case Report ◽  
Acute Pain ◽  
Late Onset ◽  
Slit Lamp ◽  
Normal Range ◽  
Slit Lamp Examination ◽  
Complete Occlusion ◽  
Malignant Glaucoma ◽  
The Right

A case report on a 49-year-old female with diagnoses of ocular hypertension in her left eye (LE) treated with 250 mg/day acetazolamide for 2 years. During the slit-lamp examination, complete occlusion of both iridocorneal angles was detected. Intraocular pressure (IOP) was 10 and 35 mmHg in the right eye and LE, respectively. Phacotrabeculectomy was performed in the LE. After 1 month of the procedure, the patient developed a slowly progressive miopization from −1 to −3 diopters (D) the following months. Approximately 3 months after surgery, the patient developed an episode of acute pain, athalamia, and IOP 45 mmHg in her LE. Late-onset malignant glaucoma was suspected and the patient was treated with topical hypotensive and cycloplegic agent until a prompt vitrectomy was performed. Deepening of the anterior chamber and restoration of IOP to normal range was obtained after surgery.

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