scholarly journals Congenital Pseudohypoparathyroidism – A Late Diagnosis

2019 ◽  
Vol 16 (2) ◽  
pp. 73-81
Author(s):  
Andreea Ruxandra Ilina ◽  
Andra Elena Gorun ◽  
Camelia Georgeta Badea ◽  
Cristian Răsvan Băicuș
Keyword(s):  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Laboratory Findings ◽  
Medicine Department ◽  
Immunological Tests ◽  
Fourth Finger ◽  
Dilatative Cardiomyopathy ◽  
History Of ◽  
Patient’S History ◽  
Severe Hypocalcaemia

AbstractThe purpose of this paper is to present a case of congenital pseudohypoparathyroidism, late diagnosed in a 22-year-old patient.The patient’s history revealed hypocalcaemia, diagnosed at birth and persistent despite the treatment with calcium. At 8 years old, the patient is diagnosed with epilepsy and receives treatment with Levetiracetam and Oxcarbazepine; at 12 years old she is diagnosed with dilatative cardiomyopathy and receives treatment with Spironolactone and Glycosides. At 22 years old, she visits our Internal Medicine Department with the suspicion of polymyositis and psoriasis. Clinical examination shows armonic short stature, fourth finger hypoplasia, laboratory findings show severe hypocalcaemia, the hand X-ray - third and fourth metacarpal hypoplasia, immunological tests were negative. All data leads to the diagnosis of congenital disease, and given the history of the patient and the evolution of the clinical manifestations we presume hypoparathyroidism or pseudohypoparathyroidism, therefore PTH is dosed – with normal values, and the diagnosis of congenital pseudohypoparathyroidism is established. The patient was referred to endocrinology, where genetic tests were performed to confirm the diagnosis.In conclusion, in the absence of multiple pathology integration into a single disease, the diagnosis of the genetic disease is delayed. Therefore, it is important to have a comprehensive approach and collaboration between different specialties to establish the correct diagnosis.

scholarly journals Tuberculosis presenting as dacryoadenitis in the USA

2019 ◽  
Vol 12 (11) ◽  
pp. e231694 ◽  
Author(s):  
Harry Ross Powers ◽  
Mark Anthony Diaz ◽  
Julio C Mendez
Keyword(s):  
Correct Diagnosis ◽  
Developed Countries ◽  
Histopathological Analysis ◽  
Orbital Mass ◽  
Antituberculosis Therapy ◽  
The Usa ◽  
History Of ◽  
Patient’S History ◽  
High Degree ◽  
Filipino Woman

A 25-year-old Filipino woman living in the USA was evaluated for a 5-month history of left eye pain and a subsequent orbital mass. Histopathological analysis of the lacrimal mass showed a mixed inflammatory process with necrotising granulomas and positive cultures for Mycobacterium tuberculosis. She was treated with antituberculosis therapy, with resolution of symptoms. Tuberculosis dacryoadenitis is extremely rare in the USA and other developed countries. It requires a high degree of clinical suspicion with special attention to the patient’s history to make the correct diagnosis. It can be treated successfully with antituberculosis therapy.

scholarly journals Grover’s disease in a patient with atopic dermatitis - a case report

2021 ◽  
Vol 74 (1-2) ◽  
pp. 33-37
Author(s):  
Sanja Jakovljevic ◽  
Ljuba Vujanovic ◽  
Dejan Ogorelica ◽  
Aleksandra Fejsa-Levakov ◽  
Jasmina Sekulic
Keyword(s):  
Case Report ◽  
Immunoglobulin E ◽  
Histopathological Examination ◽  
Correct Diagnosis ◽  
Elevated Serum ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Complete Regression ◽  
Laboratory Findings ◽  
Topical Corticosteroids

Introduction. Grover?s disease is characterized by pruriginous polymorphic rash with a variable course and duration. Although the etiology is still unknown, the disease is often associated with other dermatoses, malignant diseases, use of certain medications, as well as immunosuppression. Case Report. We report a case of a 70-year-old male patient who was referred for examination to the Clinic of Dermatovenereology Diseases, Clinical Center of Vojvodina, due to a rash that lasted for nine months. The first lesions on the skin appeared around the nipples as exudative eczematous plaques. A few months later, identical lesions appeared on the lower legs. During treatment with systemic antihistamines and topical corticosteroids, there were episodes of transient improvements and re-exacerbations. In the meantime, erythematous brownish, round and oval papules appeared on the abdomen and the back, accompanied by intense itch. Laboratory findings revealed eosinophilia and elevated serum immunoglobulin E levels. A skin biopsy of the back lesion was performed and the histopathological examination confirmed the diagnosis of Grover?s disease. After the systemic treatment using corticosteroids and antihistamines, with gradual dose reduction and application of topical corticosteroids and emollients, complete regression of the skin lesions was achieved. Conclusion. Since the clinical manifestations of the disease may be nonspecific and discrete, dermatopathological analysis is of crucial importance in making the correct diagnosis. In patients with atopy, the treatment with systemic corticosteroids, antihistamines and topical agents may lead to regression of skin lesions with a significant improvement in the quality of life.

scholarly journals COVID-19 in Cancer and non-Cancer Patients

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Farzad Taghizadeh-Hesary ◽  
Pejman Porouhan ◽  
Davood Soroosh ◽  
Babak PeyroShabany ◽  
Soodabeh Shahidsales ◽  
...  
Keyword(s):  
Mechanical Ventilation ◽  
Clinical Manifestations ◽  
Laboratory Findings ◽  
Patients With Cancer ◽  
History Of ◽  
Global Concern ◽  
Novel Coronavirus ◽  
Practice Methods ◽  
Control Study ◽  
Chest Ct Scan

Background: There is a global concern for the susceptibility of patients with cancer to the adverse effects of novel coronavirus disease (COVID-19). Objectives: Nevertheless, there is a signal of potentially increased vulnerability of patients with cancer to more COVID-19-induced mortality, this notion needs to be further evaluated in various societies with different cancer epidemiology and practice. Methods: In this case-control study, done in Iran, we evaluated the medical records of patients with cancer (Ca+ patients) who infected with COVID-19 and compare them with patients without a medical history of cancer (Ca- patients). Clinical data were collected from 19 February 2020 to 17 May 2020. The extracted data were classified into demographics, underlying medical conditions, clinical manifestations, imaging and laboratory findings, and clinical outcomes. Results: A total of 24 Ca+ patients were compared with 44 Ca- patients in terms of clinical manifestations and outcomes of COVID-19. The Ca- patients significantly developed more dry cough (75.0% vs 29.2%, P = 0.01) and fever (72.7% vs 45.8%, P = 0.02). Findings of the chest CT scan was comparable between groups, except for pleural effusion and lymphadenopathy that exclusively reported in Ca+ patients. (3% and 4%, respectively). At the end of observation, 13 (19.1%) patients died from COVID-19. This rate was significantly higher in Ca+ patients (41.7 vs 6.8%, P = 001). Likewise, Ca+ patients experienced more mechanical ventilation (25.0 vs 4.7%, P = 0.01). However, the rate of ICU admission was comparable between groups (P = 0.29). Conclusions: The patients with cancer had a higher rate of mechanical ventilation and COVID-19-induced mortality.

scholarly journals Subacute Sclerosing Panencephalltis: Clinical and Laboratory Manifestations

2019 ◽  
Vol 32 (5-6) ◽  
pp. 107-17
Author(s):  
Hardiono D. Pusponegoro ◽  
Jimmy Passat ◽  
M. Hardjono Abdoerachman
Keyword(s):  
Age Of Onset ◽  
Subacute Sclerosing Panencephalitis ◽  
Clinical Manifestations ◽  
Social Contact ◽  
Cortical Atrophy ◽  
Laboratory Findings ◽  
Immunization Programme ◽  
Positive Antibody ◽  
Burst Pattern ◽  
History Of

We reviewed clinical and laboratory findings of 12 cases of Subacute sclerosing panencephalitis (SSPE) hospitalized at our department from 1985 to 1991. All cases were diagnosed and hospitalized at the 2nd stage. The principal clinical manifestations were mental changes, myoclonus, and frequent falls. Other clinical manifestations were ocular changes, involuntary movements, loss of social contact, and spasticity. Diagnosis was based on suppression-burst pattern in EEG and positive antibody titer to measles in serum and cerebrospinal fluid. CT scan was not diagnotic, since it was either normal or showed only non-specific cortical atrophy. Eleven patients (91, 7%) recalled a history of measles in the past. Age of onset of SSPE varied among cases and was difficult to specify precisely due to its subtle nature. None of the cases had been vaccinated against measles. SSPE is a rare disease, but is almost always fatal with prolonged suffering of the patient. Based on our experience with SSPE patients, we recommend to broaden the immunization programme against measles.

scholarly journals Background History, Clinical Presentation and Laboratory Profile in Cases of Suspected Neurometabolic Disorders

2016 ◽  
Vol 39 (1) ◽  
pp. 24-29 ◽  
Author(s):  
Mustafa Mahbub ◽  
AZM Mosiul Azam ◽  
Suraj C Mazumder ◽  
Bithi Debnath ◽  
Naila Zaman Khan
Keyword(s):  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Normal Activity ◽  
New Delhi ◽  
Laboratory Findings ◽  
Neurometabolic Disorders ◽  
Wide Range ◽  
History Of ◽  
Background History ◽  
Biotinidase Activity

Background : Neurometabolic disorders (NMD) in children may present at any age with a wide range of clinical manifestations. Unexplained or intractable seizure is one of the important associations. Consanguinity, regression of development and sibling death are the clues to suspect neurometabolic disorders when laboratory support is limited. Laboratory findings however, provide the confirmatory diagnosis which is unavailable in Bangladesh.Objectives : To determine the association of consanguinity, regression of development, seizures, EEG findings and other laboratory investigations in children suspected to have neurometabolic disorders and to aid clinicians working in resourcepoor countries.Methodology : A retrospective analysis was done from the records of the patients suspected to have neurometabolic disorders admitted in the department of Neurosciences, Dhaka Shishu Hospital, Dhaka during the period of July 2007 to February 2011. Tandem Mass Spectrometry (TMS), biotinidase activity and other enzyme assay were done through a private laboratory in New Delhi, India.Results : Total 128 children were studied and the parents of 39 (31%) had history of consanguineous marriage. Seizure was associated with 96 (75%) children and abnormal EEG findings were recorded in 83 (65%). Plasma ammonia was done in 98 cases and found to be increased in 53 (54%) cases. Plasma lactate was done in 94 cases and found high in 40 (43%). TMS were done in 111 (85%) children and abnormality were found in 70 (63%) cases. Serum biotinidase activity was advised for 41 children as per TMS result and measured in 25 children of which deficient activity was found in 17(68%); borderline in 4 (16%) and normal activity in 4 (16%) cases.Conclusion: Background history and clinical presentation followed by stepwise laboratory investigation is necessary to identify neurometabolic disorders. Early and appropriate intervention can reduce neurodisability in many situations.Bangladesh J Child Health 2015; VOL 39 (1) :24-29

scholarly journals Elderly patient with atypical leiomyoma of the bladder presenting as flank pain: A case report

2017 ◽  
Vol 89 (4) ◽  
pp. 327
Author(s):  
Mojtaba Ameli ◽  
Mina Rahmandoost
Keyword(s):  
Imaging Techniques ◽  
Correct Diagnosis ◽  
Bladder Wall ◽  
Clinical Manifestations ◽  
Posterior Wall ◽  
Intestinal Wall ◽  
Flank Pain ◽  
Mesenteric Fat ◽  
History Of ◽  
Tract Infections

Atypical leiomyoma is a rare tumor of the bladder whose correct diagnosis with imaging techniques and cystoscopy is difficult. This tumor is prevalent in females and more common in middle age. In the present study we report a rare case of atypical leiomyoma presenting as flank pain and history of recurrent urinary tract infections in an elderly female. Ultrasound (US) showed that the wall of bladder was thickening and irregular, especially in the lower part of the bladder. US revealed hypoechoic solid mass with dimensions of 37 x 26 mm in the posterior bladder wall protruding into the bladder. Computed Tomography scan of the patient showed a mass with dimensions of 29 x 38 mm in the posterior wall of the bladder that infiltrated the mesenteric fat and also seemed to be invading the intestinal wall. According to the general condition and age of our patient, we removed all of the mass under spinal anesthesia by transurethral bladder resection (TURBT). Biopsy results showed atypical leiomyoma. About 6 months after the patient follow-up, no recurrence was observed and symptoms had completely resolved. According to the non-specificity of the imaging, of the age of presentation and of clinical manifestations of atypical leiomyoma differential diagnosis for bladder cancer it is recommended. Only with histopathologic findings, the diagnosis can be confirmed.

scholarly journals Xanthogranulomatous pyelonephritis in a 7-year-old girl

2020 ◽  
Vol 8 (1) ◽  
pp. 99-109
Author(s):  
V. V. Sizonov ◽  
M. I. Kogan ◽  
I. I. Babich ◽  
A. KH-A. Shidaev ◽  
O. A. Shaldenko
Keyword(s):  
Clinical Manifestations ◽  
Xanthogranulomatous Pyelonephritis ◽  
Radiological Imaging ◽  
Imaging Data ◽  
Laboratory Findings ◽  
Clinical Observations ◽  
Disease Pattern ◽  
History Of ◽  
Isotope Studies ◽  
Acute Perforation

The paper presents a case history of xanthogranulomatous pyelonephritis that developed in a 7-year-old girl in combination with urolithiasis background. Our available sources for the last 50 years contain only 283 descriptions of pediatric xanthogranulomatous pyelonephritis (XGP) cases. We were able to find in domestic publications descriptions of two clinical observations of histologically proven XGP in children of 15 and 17 years. Clinical manifestations of the disease, radiological imaging data, and laboratory findings during the initial three months of the condition fit the disease pattern of a diffuse acute pyelonephritis. A remarkable peculiarity of the presented case was in the two-month interval during which the girl with a severe destructive renal process remained under medical supervision as an outpatient, suffered no pain, and had normal urinalysis results. Nephrectomy was performed from lumbotomy access considering clinical manifestations, data from laboratory and radiological isotope studies. The postoperative period was complicated by the development on the 2nd day of acute perforation of a duodenal ulcer. The intensity of perinephric process was unique and never encountered in our earlier practice. The described changes made kidney exposure extremely difficult. Therefore, nephrectomy should be carried out exclusively in the national highly specialized pediatric urological centers.

scholarly journals Pertussis-like syndrome or pertussis: a delay diagnosis

2012 ◽  
Vol 52 (1) ◽  
pp. 28
Author(s):  
Heda Melinda Nataprawira ◽  
Finia Cahayasari ◽  
Arifin Kashmir
Keyword(s):  
Bacterial Pneumonia ◽  
Disease Burden ◽  
Whooping Cough ◽  
Clinical Manifestations ◽  
Diagnostic Methods ◽  
Gender History ◽  
Laboratory Findings ◽  
Negative Results ◽  
History Of ◽  
Pertussis Epidemiology

Background Recent reports of pertussis epidemiology from Asia,Africa and South America have been limited, but the WorldHealth Organization estimates indicate that these regions havethe highest disease burden. Difficulty in estimating the prevalenceof pertussis is due to lack of access to diagnostic methods,misdiagnoses, under-reporting, and different countries' reportingcriteria. A syndrome characterized by severe episodes of coughingresembling whooping cough (pertussis) has also been defined aspertussis-like syndrome.Objective To report eleven cases of pertussis or pertussis-likesyndrome in the pediatric ward of Hasan Sadikin Hospital.Methods This retrospective study was conducted by reviewingmedical records from 2008-2010. Characteristics of 11 pertussislikesyndrome patients were documented including age, gender,history of pertussis immunization, clinical manifestations,laboratory findings, initial diagnosis, treatment and clinicalresponse. Isolation of Bordetella pertussis using Bordet-Gengouagar was also noted. Pertussis diagnoses were grouped based ontwo classifications: probable and confirmed.Results Eleven patients were diagnosed with pertussis-likesyndrome, including 5 boys and 6 girls. Most subjects were lessthan 6 months of age. Only one subject had received previouspertussis immunization. Dyspnea, paroxysmal cough, and feverwere the most common symptoms. All were initially diagnosedto have had severe bacterial pneumonia, and later changed toprobable pertussis. Three subjects exhibited post-tussive vomitingand cyanosis, while none had apneic symptoms. All B. pertussisisolations yielded negative results. Ampicillin or cephalosporinwas initially administered. Patients receiving subsequentclarithromycin showed good clinical responses.Conclusion All infants were likely considered to have pertussis,as most had no pertussis immunizations. However, B. pertussisisolation was unsuccessful in all cases. As such, diagnoses couldnot be confirmed. [Paediatr In don es. 2012;5 2: 28-31].

scholarly journals Systemic Lupus Erythematosus with Hepatosplenic Granuloma: A Rare Case

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Anju Bharti ◽  
Lalit Prashant Meena
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Clinical Manifestations ◽  
Dramatic Improvement ◽  
Mesenteric Lymph Nodes ◽  
Systemic Lupus ◽  
Immunological Tests ◽  
Contrast Enhanced ◽  
Biopsy Report ◽  
History Of

Background. Systemic lupus erythematosus (SLE) is an autoimmune disease which is known to present with a wide variety of clinical manifestations.Case Report. A 15-year-old male presented with complaints of moderate grade fever and generalized body swelling. There was no history of cough, weight loss, joint pain, oral ulcerations, skin rash, photosensitivity, loss of hair, pain abdomen, jaundice, or any significant illness in the past. Contrast enhanced computerized tomography of the abdomen revealed hypodense lesions in both liver and spleen (without contrast enhancement), suggestive of granulomas along with few retroperitoneal and mesenteric lymph nodes. On the basis of immunological tests and renal biopsy report, SLE with hepatosplenic granulomatosis diagnosis was made. He was given pulse methylprednisolone 500 mg, for 3 days and he showed dramatic improvement clinically.Conclusion. Hepatic and splenic granulomas are not common in SLE, but this should be kept in differential diagnosis.

scholarly journals Pruritus, as a Neglected Symptom, in Opioid Poisoning in Children

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Fariba Farnaghi ◽  
Marjaneh Abbasi Ghadi ◽  
Latif Gachkar ◽  
Hossein Hassanian Moghaddam
Keyword(s):  
Complete Blood Count ◽  
Demographic Data ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Patient Specific ◽  
P Value ◽  
Specific Information ◽  
Laboratory Findings ◽  
Clinical Scenarios ◽  
Significant Difference

Background: Opioid poisoning is common and fatal childhood poisoning in Iran with nonspecific, hidden, vague, and misleading clinical manifestations in some cases. Objectives: The aim of this study was to investigate and emphasize pruritus, as a neglected and helpful symptom in this important poisoning. Methods: In this cross-sectional study, one hundred pediatrics patients (< 14 years) with opioid poisoning who were referred to Loghman Hakim Hospital, Tehran-Iran, from April 2018 to April 2019 were enrolled the study. Demographic data including age, sex, type of poisoning, clinical manifestations including pruritus, its onset, location, duration, and therapy, also laboratory findings including complete blood count (CBC) and Eosinophilia recorded in patient-specific information forms. The collected data were analyzed using SPSS 21 software. Results: The patients’ mean age was 43.4 ± 31.4 months. Fifty-seven (57%) of them were male. Fifty-two (52%) of them reported Pruritus that in 84% observed in face. In 31% of children, itching resulted in skin scratches. The most common clinical manifestations were CNS depression (93%), respiratory suppression (68%), vomiting (52%), pruritus (52%), and meiosis (51%). There was no significant relationship between pruritus and gender, age, laboratory findings, family history of addiction, and allergy. Pruritus had a significant difference with Respiratory suppression (apnea, bradypnea, cyanosis), meiosis, vomiting, and redness of the skin (P-value: 0.05, 0.003, 0.009, and 0.002, respectively). Pruritus was controlled by naloxone in all of our patients. Conclusions: According to the results of the present study, pruritus is a common and helpful clinical manifestation in children with opioid poisoning that helps the physician for correct diagnosis, especially in hidden clinical scenarios.

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