Female child with Fabry disease and two other genetic diseases, spherocytosis, and congenital hypothyroidism, A case report

2021 ◽  
Vol 132 (2) ◽  
pp. S24
Author(s):  
Magdalena Cerón-Rodriguez ◽  
Daniela Castillo-García ◽  
Carlos Patricio Acosta-Rodriguez-Bueno ◽  
Patricia Baeza-Capetillo ◽  
Jesús Aguirre-Hernández
JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Charity Wiafe Akenten ◽  
Kennedy Gyau Boahen ◽  
Kwadwo Sarfo Marfo ◽  
Nimako Sarpong ◽  
Denise Dekker ◽  
...  

Abstract Background The increasing incidence of multi-antibiotic-resistant bacterial infections, coupled with the risk of co-infections in malaria-endemic regions, complicates accurate diagnosis and prolongs hospitalization, thereby increasing the total cost of illness. Further, there are challenges in making the correct choice of antibiotic treatment and duration, precipitated by a lack of access to microbial culture facilities in many hospitals in Ghana. The aim of this case report is to highlight the need for blood cultures or alternative rapid tests to be performed routinely in malaria patients, to diagnose co-infections with bacteria, especially when symptoms persist after antimalarial treatment. Case presentation A 6-month old black female child presented to the Agogo Presbyterian Hospital with fever, diarrhea, and a 3-day history of cough. A rapid diagnostic test for malaria and Malaria microscopy was positive for P. falciparum with a parasitemia of 224 parasites/μl. The patient was treated with Intravenous Artesunate, parental antibiotics (cefuroxime and gentamicin) and oral dispersible zinc tablets in addition to intravenous fluids. Blood culture yielded Acinetobacter baumanii, which was resistant to all of the third-generation antibiotics included in the susceptibility test conducted, but sensitive to ciprofloxacin and gentamicin. After augmenting treatment with intravenous ciprofloxacin, all symptoms resolved. Conclusion Even though this study cannot confirm whether the bacterial infection was nosocomial or otherwise, the case highlights the necessity to test malaria patients for possible co-infections, especially when fever persists after parasites have been cleared from the bloodstream. Bacterial blood cultures and antimicrobial susceptibility testing should be routinely performed to guide treatment options for febril illnesses in Ghana in order to reduce inappropriate use of broad-spectrum antibiotics and limit the development of antimicrobial resistance.


Author(s):  
Michał Nowicki ◽  
Stanisława Bazan-Socha ◽  
Mariusz Kłopotowski ◽  
Beata Błażejewska-Hyżorek ◽  
Mariusz Kusztal ◽  
...  

Current therapy for Anderson–Fabry disease in Poland includes hospital or clinic-based intravenous enzyme replacement therapy with recombinant agalsidase alpha or beta, or oral pharmacological chaperone therapy with migalastat. Some countries around the world offer such treatment to patients in the comfort of their own homes. The 2020–2021 COVID-19 pandemic has pushed global healthcare providers to evolve their services so as to minimize the risk of COVID-19 exposure to both patients and providers; this has led to advances in telemedicine services and the increasing availability of at-home treatment for various procedures including parenteral drug administration. A total of 80% of surveyed Anderson–Fabry disease patients in Poland would prefer home-based treatment, which would be a safe and convenient alternative to clinic-based treatment if patient selection is based on our proposed algorithm. Our recommendations for home-based treatments appear feasible for the long term care of Anderson–Fabry disease patients during the COVID-19 pandemic and beyond. This may also serve as a basis for home-based treatment programs in other rare and ultra-rare genetic diseases.


2019 ◽  
Author(s):  
LIZETH CHAPARRO DEL PORTILLO ◽  
JÚLIA YONESHIGUE LARANJA DE OLIVEIRA ◽  
HANY KELLY ARAUJO CRUZ ◽  
BRUNO BORDALO CORRÊA ◽  
VIVIAN MABEL ORSI DORADO ◽  
...  

2015 ◽  
Vol 5 (20) ◽  
pp. 229-231
Author(s):  
Atanas Vlaykov ◽  
Dian Sharlanov ◽  
Dilyana Vicheva

Abstract Background. Supernumerary teeth are described as an excess of the normal teeth number of 20 deciduous and 32 permanent teeth and can occur in any dental region. Material and methods. The authors present the case of a 12-year-old female child with a paramolar in the maxilla, discovered accidentally during an orthopantomogram, emphasising the treatment modality and the complications that can appear. Conclusion. Supernumerary teeth can be present in any region of the oral cavity. Both practitioners and clinicians should be aware of the various types of paramolars and make a treatment plan after an accurate clinical and radiographic examination.


TURKDERM ◽  
2014 ◽  
Vol 48 (S2) ◽  
pp. 97-100 ◽  
Author(s):  
Aslı Aksu Çerman ◽  
Janset Erkul Arıcı ◽  
İlknur Kıvanç Altunay ◽  
Cuyan Demirkesen ◽  
Nihal Aslı Küçükünal

2020 ◽  
Vol 7 (2) ◽  
pp. 442
Author(s):  
Vivek Parameswara Sarma ◽  
Sunil S. Menon

Adrenocortical carticnoma (ACC) is an uncommon tumor with an incidence of 1-2 cases/million/year. It has two peak incidences; the first one in the first decade and the second one in the fourth decade. Most patients present with features of steroid hormone excess or abdominal mass effects, but about 15% of ACC are diagnosed incidentally. It is hormonally functional in 80 - 100% patients and the predisposing lesions include congenital adrenal hyperplasia and adenoma. ACC has significant syndromic and genetic association. Surgery offers the best chance of cure, especially in localized disease. Here, we present the case of virilization in a young female child secondary to a functioning ACC. The child had classical hormonal and imaging features of functioning ACC and underwent resection of the tumor (Adrenalectomy) with good outcome.


2020 ◽  
Vol 6 (1) ◽  
pp. 45-48
Author(s):  
Sonam Gyamtsho

Introduction: Infants and children are very prone to air way obstruction due to smaller and immature air ways. There are multiple causes of upper airway obstruction in infants like infections, congenital lesions and rarely tumours of the upper airway. However, angiofibrolipoma, a rare variant of lipoma causing intermittent respiratory distress in an infant has not been reported until now. Objective: To report a very rare case of angiofibrolipoma arising from the soft palate in an infant. Case report: Two and half months old female child reported to the department of otolaryngology with a history of intermittent airway obstruction since one month of age. After evaluation she was found to have a fleshy polypoidal mass above the laryngeal inlet arising from soft palate causing airway compromise. She underwent surgical excison with bipolar cautery under general anaesthesia. Conclusion: Few cases of angiofibrolipoma has been reported in adults but none has been reported in children. This is to report a case of angiofibrolipoma in child causing airway obstruction.


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