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Reports, Volume 2, Issue 2 (June 2019)

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Open AccessCase Report
New Deletions in the Hermansky-Pudlak Syndrome Type 5 Gene in a Japanese Patient
Received: 13 April 2019 / Revised: 10 May 2019 / Accepted: 14 May 2019 / Published: 15 May 2019
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Abstract
The Hermansky-Pudlak syndrome (HPS) is a rare disease characterized by oculocutaneous albinism and prolonged bleeding. HPS is caused by alterations in HPS1-10 and their related genes, comprising the biogenesis of lysosome-related organelles complex 1–3 and adapter protein 3. Here, we report a Japanese [...] Read more.
The Hermansky-Pudlak syndrome (HPS) is a rare disease characterized by oculocutaneous albinism and prolonged bleeding. HPS is caused by alterations in HPS1-10 and their related genes, comprising the biogenesis of lysosome-related organelles complex 1–3 and adapter protein 3. Here, we report a Japanese patient with HPS associated with mild hypopigmentation, nystagmus, and impaired visual acuity. Sequencing analyses of the mRNA of this patient revealed new deletions (ΔGA and ΔG) in the HPS5 gene. This was the first case of HPS5 gene deficiency in Japan, and the two above-mentioned deletions have not yet been reported among patients with HPS5. Full article
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Open AccessCase Report
Delayed Onset of Dural Arteriovenous Fistula Following Trauma
Received: 12 April 2019 / Revised: 30 April 2019 / Accepted: 2 May 2019 / Published: 4 May 2019
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Abstract
Dural Arteriovenous Fistulas (dAVF) are pathological shunts that are often idiopathic in presentation. However, it is reported that many patients presenting with dAVF have past medical histories notable for surgeries, hypercoagulation disorders, infections, and trauma. In trauma-linked dAVF, presentation generally occurs within 48 [...] Read more.
Dural Arteriovenous Fistulas (dAVF) are pathological shunts that are often idiopathic in presentation. However, it is reported that many patients presenting with dAVF have past medical histories notable for surgeries, hypercoagulation disorders, infections, and trauma. In trauma-linked dAVF, presentation generally occurs within 48 h post-incident. In the present case, the authors discuss the delayed onset of a Borden type II dAVF in a patient 12 hospital days post-trauma, as well as the course of treatment. This unique case provides a compelling demonstration for providers to be aware of the development of dAVF, even after the typical 48-hour post-trauma window. By being aware of the possibility of delayed dAVF presentation, delayed diagnosis or misdiagnosis can be avoided and emergent action can be taken. Full article
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Open AccessCase Report
The Management of Resistant Hypercalcaemia Secondary to Cancer of Unknown Primary and Presenting with Pancreatitis
Received: 2 March 2019 / Revised: 19 March 2019 / Accepted: 27 March 2019 / Published: 3 April 2019
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Abstract
We present a 31-year-old female who presented to the general surgical take with epigastric pain associated with a raised amylase and corrected calcium on admission. Computed tomography confirmed acute pancreatitis and also demonstrated a 15 cm liver tumour. She was subsequently diagnosed with [...] Read more.
We present a 31-year-old female who presented to the general surgical take with epigastric pain associated with a raised amylase and corrected calcium on admission. Computed tomography confirmed acute pancreatitis and also demonstrated a 15 cm liver tumour. She was subsequently diagnosed with cancer of unknown primary with liver metastases. The patient’s pancreatitis symptoms improved with conservative management, but her calcium proved quite resistant to basic measures. Further input was sought from the medical on-call endocrinology and oncology teams to help manage this patient’s hypercalcaemia, which included pamidronate, zolendronate, and denusomab, but ultimately it only improved significantly following chemotherapy. This case to our knowledge is the only one of its kind and highlights the importance of early multidisciplinary team involvement across specialties to help manage complex patients. Full article
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Open AccessCase Report
Cyclical Fevers in a 4-year-old Boy with IgA Deficiency
Received: 10 March 2019 / Revised: 23 March 2019 / Accepted: 24 March 2019 / Published: 29 March 2019
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Abstract
While immunodeficiencies, such as (Immunoglobulin A) IgA deficiency, may predispose pediatric patients to respiratory illnesses, they are also associated with autoinflammatory conditions. Distinguishing between these possible complications requires an awareness of these uncommon conditions. We report a case of a four-year-old boy with [...] Read more.
While immunodeficiencies, such as (Immunoglobulin A) IgA deficiency, may predispose pediatric patients to respiratory illnesses, they are also associated with autoinflammatory conditions. Distinguishing between these possible complications requires an awareness of these uncommon conditions. We report a case of a four-year-old boy with a history of IgA deficiency presenting to his primary care provider with fever of one week’s duration accompanied by abdominal, ear, and throat pain. The patient’s mother reported that he had these symptoms twice a month for the prior ten months during which he occasionally developed oral ulcers. Between episodes, the patient fully recovered without complications. Considering the patient’s history of IgA deficiency, it was originally assumed that the patient had strep throat and coincidental resolution of his symptoms after initiation of antibiotic therapy supported this diagnosis. However, due to the recurrent nature of his symptoms, a preliminary diagnosis of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) was made. A referral to an otolaryngologist was made, and findings of adenopathy and tonsillitis suggestive of PFAPA were confirmed. The patient was scheduled for adenoidectomy and tonsillectomy, which were performed without complication, leading to the cessation of these episodes. Full article
(This article belongs to the Special Issue Case Reports in Pediatrics)
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