Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature

2021 ◽  
Author(s):  
Stephanie Christensen ◽  
Peter J. Tebben ◽  
David Sas ◽  
Ana L. Creo
Keyword(s):  
Literature Review ◽  
Clinical Presentation ◽  
Case Series ◽  
Rare Condition ◽  
Signs And Symptoms ◽  
Hypophosphatemic Rickets ◽  
Urinary Stones ◽  
Old Patients ◽  
Dihydroxyvitamin D ◽  
Variable Clinical Presentation

Introduction: Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) is a rare condition of renal phosphate wasting due to SLC34A3 mutations [1]. Patients exhibit low serum phosphorus, high 1,25-dihydroxyvitamin D and inappropriately high urine phosphate and calcium. However, symptoms vary and little is known about specific phenotype-genotype correlations. Methods: We report three HHRH cases in unrelated 12-year-old, 9-year-old and 14-year-old patients and perform a systematic literature review. Results: All three patients exhibited labs typical of HHRH. Yet, their presentations differed and 2 novel SLC34A3 variants were identified. As found in the literature review, bone symptoms are most common (50%), followed by renal symptoms (17%), combined bone and renal symptoms (18%) and asymptomatic (9%). Conclusion: These three cases highlight the variability of presenting signs and symptoms among individuals with HHRH. An accurate diagnosis is critical, as treatment differs from other disorders of phosphate wasting, urinary stones, and mineralization defects.

scholarly journals Management of Isolated Capitate Nonunion: A Case Series and Literature Review

2018 ◽  
Vol 07 (05) ◽  
pp. 419-423 ◽  
Author(s):  
Rishabh Jethanandani ◽  
Schneider Rancy ◽  
Keith Corpus ◽  
Jeffrey Yao ◽  
Scott Wolfe
Keyword(s):  
Literature Review ◽  
Internal Fixation ◽  
Bone Grafting ◽  
Relevant Literature ◽  
Case Series ◽  
Rare Condition ◽  
Vascular Supply ◽  
Autogenous Bone ◽  
Rare Injury ◽  
Autogenous Bone Grafting

Background Isolated capitate nonunion is rare. No consensus on the appropriate treatment for this condition exists. Case Description We reported two cases of capitate fracture nonunion presenting several months after untreated high-impact wrist trauma. Treatment was delayed as both patients' nonunions were missed on conventional radiographs. Both were ultimately diagnosed with advanced imaging and successfully treated with internal fixation and autogenous bone grafting. The relevant literature pertaining to capitate nonunion was reviewed. Literature Review Immobilization and internal fixation with bone grafting for capitate nonunion have been described in the literature. Loss of vascular supply and progression to avascular necrosis is a concern after capitate nonunion. Clinical Relevance We present two cases and review the literature on the diagnosis and treatment of this rare injury to guide management. Internal fixation with autogenous bone grafting could play a role in management for this rare condition.

scholarly journals Clinical manifestations of chronic subdural hematoma in the elderly: Literature Review

2021 ◽  
Author(s):  
Gabriela Ferreira Kalkmann ◽  
Carlos Umberto Pereira ◽  
Francisco de Assis Pereira ◽  
Débora Moura da Paixão Oliveira ◽  
Nicollas Nunes Rabelo
Keyword(s):  
Early Diagnosis ◽  
Literature Review ◽  
Subdural Hematoma ◽  
Elderly Population ◽  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Chronic Subdural Hematoma ◽  
Signs And Symptoms ◽  
The Elderly ◽  
Study Results

Introduction: The clinical manifestations of chronic subdural hematoma (CSDH) are often confused with other medical entities in the elderly, making their early diagnosis difficult or difficult. Early diagnosis is important, since its prognosis is directly associated with the preoperative neurological state, thus resulting in a worse vital and functional prognosis. Objectives: Report through a literature review the clinical manifestations of CSDH in the elderly population. Methods: Literature review, with the search terms: “Signs and Symptoms”, “Chronic Subdural Hematoma”, Aged, Diagnosis and Prognosis. In which PubMed, Lilacs, Scielo, Cochrane and TripDataBase data platforms were used. The inclusion criteria were: original studies published in any language. Articles in which full reading was prevented were excluded. With the application of the inclusion and exclusion criteria, 110 articles were included in the study. Results: Clinical presentation depends on the location, volume of the hematoma, rapid growth, the location of the CSDH, whether unilateral or bilateral, and the clinical conditions of the patient. Because the forms of clinical presentation of CSDH are variable, it is necessary that health professionals linked to the elderly (geriatrician, psychiatrist, general practitioner) have knowledge of this clinical entity. Conclusions: The recognition of classic forms as well as the identification of risk factors in the elderly favors the timely diagnosis and treatment of CSDH in the elderly population.

scholarly journals High in-hospital mortality due to COVID-19 in a community hospital in Spain: a prospective observational study

2020 ◽  
Author(s):  
Joan Carles Trullàs ◽  
Eva Ruiz ◽  
Clara Weisweiler ◽  
Gemma Badosa ◽  
Alba Serra ◽  
...  
Keyword(s):  
Hospital Mortality ◽  
Clinical Characteristics ◽  
Prospective Observational Study ◽  
Community Hospital ◽  
Clinical Presentation ◽  
Lung Ultrasound ◽  
Case Series ◽  
Hospitalized Patients ◽  
Laboratory Findings ◽  
Old Patients

Abstract Background To describe the clinical characteristics and outcome of patients with COVID-19 in a community hospital in SpainMethods Prospective, single-centre case series of the first 100 consecutive hospitalized patients with COVID-19 at a community hospital in Spain, from March 16 to April 20, 2020. Demographics, comorbidities, clinical presentation, radiologic and laboratory findings, treatment and clinical outcome were collected.Results Of the 100 patients included in the study, the median age (IQR; range) was 75 years (20; 28–96) and 52% were men. The most common comorbidities were hypertension (63%), diabetes (22%) and cardiovascular diseases (28%). The most common symptoms were fever (80%), cough (69%), fatigue (59%) and dyspnea (52%) and 64% had respiratory insufficiency. Bilateral interstitial infiltrates (65/100, 65%) and bilateral vertical “B-kerley” lines (38/46, 82.6%) were the most common imaging manifestations in chest radiographs and lung ultrasound, respectively. All patients received supplementary oxygen, 69 (69%) received medical treatment (the most common regimen being hydroxychloroquine plus azithromycin in 66 patients) and 12% were treated with glucocorticoids. During hospitalization, 26 patients (26%) died, 10 (10%) were transferred to ICU and 64 (64%) were discharged at home. Mortality or ICU admission was more frequent in advanced age and with comorbidities.Conclusions This case series provides clinical characteristics and outcome of consecutively hospitalized patients with COVID-19 admitted to a community hospital in Spain. The majority were old patients, with comorbidities and in-hospital mortality was high (26%).

scholarly journals Hypercalcemia in Children Using the Ketogenic Diet: A Multicenter Study

2020 ◽  
Author(s):  
Colin P Hawkes ◽  
Sani M Roy ◽  
Bassem Dekelbab ◽  
Britney Frazier ◽  
Monica Grover ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Clinical Presentation ◽  
Case Series ◽  
Response To Treatment ◽  
Close Attention ◽  
Dihydroxyvitamin D ◽  
Osteoblast Activity ◽  
Low Levels ◽  
Acute Hypercalcemia

Abstract Context The ketogenic diet is associated with progressive skeletal demineralization, hypercalciuria, and nephrolithiasis. Acute hypercalcemia has been described as a newly recognized complication of this treatment. Objective To describe the clinical characteristics of acute hypercalcemia in children on the ketogenic diet through analysis of the presentation, response to treatment, and natural history in a large cohort of patients. Design A multicenter case series was performed including children who developed acute hypercalcemia while treated with the ketogenic diet. Information on clinical presentation, treatment, and course of this complication was collated centrally. Results There were 14 patients (median (range) age 6.3 (0.9 to 18) years) who developed hypercalcemia 2.1 (range, 0.2-12) years after starting the ketogenic diet. All had low levels of parathyroid hormone and levels of 1,25-dihydroxyvitamin D were low in all except one. Seven (50%) had impaired renal function at presentation. All except the 2 oldest had low alkaline phosphatase levels for age. Once normocalcemia was achieved, hypercalcemia recurred in only 2 of these patients over observation of up to 9.8 years. One patient discontinued the ketogenic diet prior to achieving normocalcemia while 4 more stopped the diet during follow-up after resolution of hypercalcemia. Conclusions Ketotic hypercalcemia can occur years after starting the ketogenic diet, especially in the setting of renal impairment. The mechanism is unknown but appears to be due to reduced osteoblast activity and impaired bone formation. We recommend close attention to optimizing bone health in these children, and screening for the development of ketotic hypercalcemia.

Audio-Vestibular Signs and Symptoms in Chiari Malformation Type I. Case Series and Literature Review

2015 ◽  
Vol 66 (1) ◽  
pp. 28-35 ◽  
Author(s):  
Gloria Guerra Jiménez ◽  
Ángel Mazón Gutiérrez ◽  
Enrique Marco de Lucas ◽  
Natalia Valle San Román ◽  
Rubén Martín Laez ◽  
...  
Keyword(s):  
Literature Review ◽  
Chiari Malformation ◽  
Case Series ◽  
Signs And Symptoms ◽  
Type I ◽  
Chiari Malformation Type I

scholarly journals Significant Clinical Manifestations in Ballantyne Syndrome, after a Case Report and Literature Review: Recognizing Preeclampsia as a Differential Diagnosis

2019 ◽  
Vol 2019 ◽  
pp. 1-7 ◽  
Author(s):  
Silvia F. Navarro-Perez ◽  
Karen Corona-Fernandez ◽  
José L. Rodriguez-Chavez ◽  
A. Bañuelos-Franco ◽  
María G. Zavala-Cerna
Keyword(s):  
Literature Review ◽  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Fetal Loss ◽  
Signs And Symptoms ◽  
Sacrococcygeal Teratoma ◽  
Fetal Hydrops ◽  
Early Management ◽  
Fetal Survival ◽  
Clinical Triad

Ballantyne syndrome (BS) also called mirror syndrome is defined by the presence of a clinical triad that includes fetal hydrops and placental and maternal edema. Here we present a clinical case of a 34-year-old woman with a 29 weeks’ pregnancy, who developed BS and fetal loss probably due to failure in prompt recognition of a rapidly growing sacrococcygeal teratoma (SCT). Due to similarities in clinical presentation with preeclampsia and the importance in early identification of the source for BS, we underwent a literature review in order to identify significant signs and symptoms, as well as sonographic changes, in order to help clinicians to make this prompt recognition, identification of the cause, and early management of BS, which will have an important impact in maternal and fetal survival.

scholarly journals Neonatal Chylothoraces: A 10-Year Experience in a Tertiary Neonatal Referral Centre

2019 ◽  
Vol 2019 ◽  
pp. 1-4 ◽  
Author(s):  
Marie K. White ◽  
Ravindra Bhat ◽  
Anne Greenough
Keyword(s):  
Literature Review ◽  
Pleural Fluid ◽  
Best Practice ◽  
Surgical Intervention ◽  
Case Series ◽  
Medium Chain Triglyceride ◽  
Rare Condition ◽  
Healthcare Utilisation ◽  
Dosing Regimens ◽  
Key Words Neonates

Background. Neonatal chylothorax is a rare condition, but has a high mortality. Study Objectives. To analyse the outcomes of a series of neonates with chylothorax and review the literature to determine best practice. Design. A case series review and a literature review using electronic databases including the key words neonates and chylothorax. Results. Six cases of neonatal chylothorax were identified during a ten-year period, two had congenital chylothoraces and four iatrogenic chylothoraces after thoracic surgery or chest instrumentation. The neonates were ventilated for a median of 30 (range 13–125) days with a median maximum daily pleural fluid output of 218 (range 86–310) ml/kg/day. All the neonates were given medium-chain triglyceride (MCT) feeds which stabilised pleural fluid output in four and reduced it in another. Octreotide was used in three neonates, but the dosage used had no significant effect on pleural output. Two neonates required surgical intervention. The literature review demonstrated MCT feeds can reduce or stabilise pleural fluid output, but highlighted variable use of octreotide and inconsistent dosing regimens and outcomes. No consensus regarding indications for surgical intervention was identified. Summary and Conclusion. Neonatal chylothorax is uncommon, but affected neonates require high healthcare utilisation.

Inflammatory myofibroblastic tumours of the respiratory tract: paediatric case series with varying clinical presentations

2011 ◽  
Vol 125 (8) ◽  
pp. 865-868 ◽  
Author(s):  
M Brodlie ◽  
S C Barwick ◽  
K M Wood ◽  
M C McKean ◽  
A Welch
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Respiratory Tract ◽  
Clinical Presentation ◽  
Case Series ◽  
Clinical Importance ◽  
Inflammatory Myofibroblastic Tumour ◽  
Left Main ◽  
Clinical Presentations ◽  
Paediatric Case ◽  
Variable Clinical Presentation

AbstractObjectives:To highlight the clinical importance of inflammatory myofibroblastic tumours of the respiratory tract in children, and to present a case series of three children which illustrates this tumour's variable clinical presentation.Case history:The series includes: a nine-year-old girl with a diagnosis of juvenile idiopathic arthritis, who presented with finger clubbing and was found to have an inflammatory myofibroblastic tumour in her right upper lobe; a 15-year-old adolescent with a left main stem bronchial inflammatory myofibroblastic tumour, who presented with breathlessness and chest pain; and a 12-year-old girl with a tracheal inflammatory myofibroblastic tumour who presented with stridor. In each case, the tumour was resected surgically.Conclusion:Inflammatory myofibroblastic tumour are a rare but clinically important and pathologically distinct lesion of the respiratory tract in children. The cases in this series highlight some of the varied clinical presentations of inflammatory myofibroblastic tumours, and illustrate some of this tumour's different anatomical locations within the paediatric respiratory tract.

scholarly journals A REVIEW ON PATHOGENESIS OF DISEASE WITH SPECIAL REFERENCE TO ANUBANDHA AND ANANUBANDHA VAADA

2020 ◽  
Vol 08 (11) ◽  
pp. 5051-5056
Author(s):  
Ebin. T U ◽  
Jai G.
Keyword(s):  
Literature Review ◽  
Special Reference ◽  
Clinical Presentation ◽  
Treatment Plan ◽  
Signs And Symptoms ◽  
Disease Development ◽  
Detailed Explanation ◽  
Causative Factors ◽  
Factor Sequence

Introduction: In Ayurveda a detailed explanation of causative factors, pathogenesis, signs and symptoms and prognosis of different Nija Rogas are available. Even then the subjectivity of a disease in its origin, clinical presentation and curative facets with respect to individuals are found to be different. This can be cleared by the knowledge of Anubandha – Anubandha Vaada. Materials and Methods: The present work is a literature review on the theory of Anubandha -Ananubandha and its importance in Nija Roga manifes-tation. Results and Discussion: The strength of disease may be assessed through the Anubandha and Ananubandha of Nidana, Dosha and Dooshya. A well treatment plan with either Brimhana or Langhana should be assigned through this principle. Similarly, an appropriate lifestyle can be followed which may essentially help to cure a disease or prevent a disease. Conclusion: By proper knowledge Nidana Panchaka and Shat-Kriyakala, a Vaidhya is able to break the factor sequence in a disease development. Understand-ing in depth the different facets of Anubandha - Ananubandha Vaada helps in preventing, recognizing and curing disease.

scholarly journals Osteomyelitis of the Patella in a 10-Year-Old Girl: A Case Report and Review of the Literature

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Author(s):  
Matthias Sperl ◽  
Michael Novak ◽  
Daniela Sperl ◽  
Martin Svehlik ◽  
Georg Singer ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Female Patient ◽  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
Diagnostic Procedures ◽  
Long Bones ◽  
Review Of The Literature ◽  
Present Case Report ◽  
Variable Clinical Presentation

The incidence of osteomyelitis constantly declines. While the disease most commonly affects the long bones, involvement of the patella is rarely seen. Due to this rarity and the variable clinical presentation, diagnosis is often delayed. The present case report describes a 10-year-old female patient with a delayed diagnosis of patella osteomyelitis. The diagnostic procedures and the treatment regimen are described. Additionally, a detailed literature review of the available publications reporting osteomyelitis of the patella in children is presented.

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