Lymphangiomas are uncommon benign lymphatic vessel tumors that can affect any area of the body served with the lymphatic system. Intra-abdominal lymphangiomas are considered rare, accounting for less than 5 percent of all lymphangioma cases. In this case report, we present a recurrent large retroperitoneal lymphangioma in a previously healthy 15-year-old boy. The patient presented to the Emergency Department with abdominal pain lasting for one week. The pain, described as diffuse, crampy, and non-radiating, gradually increased with time and was aggravated by movement. A large retroperitoneal fluid collection was found on the Computed Tomography (CT) scan. Subsequently, the patient underwent CT-guided drainage, at which 700ml of bloody fluid was extracted. After three months, the patient was readmitted to the hospital for a similar presentation of abdominal fullness and pain. Complete blood count analysis indicated an unremarkable profile, except for a left shift of 82.2% neutrophils and a white blood cell count of 11,300/mcl. A CT scan of the abdomen reported a large, thin-walled cystic lesion in the right hemi-abdomen with minimal thin internal septations, resulting in moderate right hydronephrosis/hydroureter.
{"title":"A Large Recurrent Retroperitoneal Lymphangioma in a Previously Healthy Adolescent Male: A Case Report","authors":"Samer Bou Karroum, Ayachi Fakhreddine, Raphael Mattamal","doi":"10.36013/jrdod.v4i.127","DOIUrl":"https://doi.org/10.36013/jrdod.v4i.127","url":null,"abstract":"Lymphangiomas are uncommon benign lymphatic vessel tumors that can affect any area of the body served with the lymphatic system. Intra-abdominal lymphangiomas are considered rare, accounting for less than 5 percent of all lymphangioma cases. In this case report, we present a recurrent large retroperitoneal lymphangioma in a previously healthy 15-year-old boy. The patient presented to the Emergency Department with abdominal pain lasting for one week. The pain, described as diffuse, crampy, and non-radiating, gradually increased with time and was aggravated by movement. A large retroperitoneal fluid collection was found on the Computed Tomography (CT) scan. Subsequently, the patient underwent CT-guided drainage, at which 700ml of bloody fluid was extracted. After three months, the patient was readmitted to the hospital for a similar presentation of abdominal fullness and pain. Complete blood count analysis indicated an unremarkable profile, except for a left shift of 82.2% neutrophils and a white blood cell count of 11,300/mcl. A CT scan of the abdomen reported a large, thin-walled cystic lesion in the right hemi-abdomen with minimal thin internal septations, resulting in moderate right hydronephrosis/hydroureter.","PeriodicalId":91032,"journal":{"name":"Journal of rare diseases and orphan drugs","volume":"587 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138982976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Gelmetti, F. Besagni, L. Garavelli, E. Pisaneschi, C. Misciali, Lara Valeri, Francesca Peluso, M. Chessa, M. Leuzzi, A. Virdi, B. M. Piraccini, I. Neri
Abstract: Case report A A 10-year-old female patient born from non-consanguineous healthy parents after a regular pregnancy developed, at the age of 3 months, diffuse hyperkeratotic, pruritic plaques on her face, forearms, wrists, perineal and sacral regions in a mosaic pattern distribution, growing progressively. Laboratory and instrumental investigations and a skin biopsy were performed, and both the patient and her parents underwent genetic testing. Histology described acanthosis and orthokeratotyc hyperkeratosis in a basket-weave pattern. Genetic investigations revealed, in our patient, a pathogenic paternal variant and the deletion of the corresponding maternal allele associated with the autosomal recessive form of Progressive Symmetrical Erythrokeratodermia (PSEK). Discussion A review of the literature showed similarities and differences with this case. Diagnosis of autosomal recessive PSEK was made, uniquely associated in our patient with another genetic mutation of the KRT2 gene. Systemic retinoids and topical emollients were started, leading to a significant reduction of hyperkeratosis and a progressive resolution of the lesions. The most interesting feature was their further evolution, with the onset of sparing areas, suggestive of revertant mosaicism, although not confirmed by histology. Conclusion This is the first case of Progressive Symmetrical Erythrokeratodermia associated with both the c.879G>A genomic variant in the KDSR gene and the p.Ala517Gly genetic variant of the KRT2 gene. A clinical picture was suggestive of revertant mosaicism observed in the patient, which, to date, has never been described in the literature. Systemic therapy with oral retinoids in association with topical keratolytics.
{"title":"A Particular Case of Autosomal Recessive Progressive Symmetrical Erythrokeratodermia (PSEK) and a Review of the Literature.","authors":"A. Gelmetti, F. Besagni, L. Garavelli, E. Pisaneschi, C. Misciali, Lara Valeri, Francesca Peluso, M. Chessa, M. Leuzzi, A. Virdi, B. M. Piraccini, I. Neri","doi":"10.36013/jrdod.v4i.119","DOIUrl":"https://doi.org/10.36013/jrdod.v4i.119","url":null,"abstract":"Abstract: Case report A A 10-year-old female patient born from non-consanguineous healthy parents after a regular pregnancy developed, at the age of 3 months, diffuse hyperkeratotic, pruritic plaques on her face, forearms, wrists, perineal and sacral regions in a mosaic pattern distribution, growing progressively. Laboratory and instrumental investigations and a skin biopsy were performed, and both the patient and her parents underwent genetic testing. Histology described acanthosis and orthokeratotyc hyperkeratosis in a basket-weave pattern. Genetic investigations revealed, in our patient, a pathogenic paternal variant and the deletion of the corresponding maternal allele associated with the autosomal recessive form of Progressive Symmetrical Erythrokeratodermia (PSEK). Discussion A review of the literature showed similarities and differences with this case. Diagnosis of autosomal recessive PSEK was made, uniquely associated in our patient with another genetic mutation of the KRT2 gene. Systemic retinoids and topical emollients were started, leading to a significant reduction of hyperkeratosis and a progressive resolution of the lesions. The most interesting feature was their further evolution, with the onset of sparing areas, suggestive of revertant mosaicism, although not confirmed by histology. Conclusion This is the first case of Progressive Symmetrical Erythrokeratodermia associated with both the c.879G>A genomic variant in the KDSR gene and the p.Ala517Gly genetic variant of the KRT2 gene. A clinical picture was suggestive of revertant mosaicism observed in the patient, which, to date, has never been described in the literature. Systemic therapy with oral retinoids in association with topical keratolytics.","PeriodicalId":91032,"journal":{"name":"Journal of rare diseases and orphan drugs","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41579630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract: Background Temperature instability is a relatively common presenting symptom in a Neonatal Intensive Care Unit (NICU) with sepsis being one of the major etiologies that need to be ruled out. However, an important differential diagnosis is a central fever. Many cases of Intracranial Hemorrhage/Intraventricular Hemorrhage (ICH/IVH) present with temperature dysregulation with no other clear associated symptoms, and cranial imaging for early identification and treatment of ICH/IVH is crucial. Case report A 3-day-old male born at 33 weeks and four days of gestation who was admitted to the neonatal critical care unit due to prematurity and respiratory distress was noted to be febrile during the fourth hospital day. The septic screen was negative, and the patient continued to spike fever while on broad-spectrum antimicrobial treatment. Due to an unexplained drop in his hematocrit, cranial ultrasound was done, and grade III IVH was identified. The patient continued to improve clinically, but the exact etiology of his IVH was not identified. His fever resolved without interventions, and his IVH continued to decrease in size. Serial cranial imaging was done in NICU, and no neurosurgical interventions were warranted. He was referred to neurosurgery and neurology and followed in the infant’s high-risk clinic. Discussion Sepsis is the top of differentials when managing a newborn infant in NICU. However, we must always keep our minds open to other differentials, including central hyperthermia. Extreme prematurity is a major risk factor for ICH/IVH in the neonatal period; nonetheless, other risk factors are identified, and many cases of ICH/IVH had no identified causative factor or even risk factors. Conclusion Identifying clinical presentation and risk factors associated with ICH and IVH in NICU patients is crucial for early diagnosis and offers appropriate management. A high index of suspicion is required to promptly diagnose ICH/IVH resulting in central fever and avoid unnecessary workup and treatment.
{"title":"Neonatal Intraventricular Hemorrhage Presenting as Pyrexia of Newborn: A Case Report","authors":"Maha Taranish, Saima Almani, O. Adesanya","doi":"10.36013/jrdod.vi.115","DOIUrl":"https://doi.org/10.36013/jrdod.vi.115","url":null,"abstract":"Abstract: \u0000Background Temperature instability is a relatively common presenting symptom in a Neonatal Intensive Care Unit (NICU) with sepsis being one of the major etiologies that need to be ruled out. However, an important differential diagnosis is a central fever. Many cases of Intracranial Hemorrhage/Intraventricular Hemorrhage (ICH/IVH) present with temperature dysregulation with no other clear associated symptoms, and cranial imaging for early identification and treatment of ICH/IVH is crucial. \u0000Case report A 3-day-old male born at 33 weeks and four days of gestation who was admitted to the neonatal critical care unit due to prematurity and respiratory distress was noted to be febrile during the fourth hospital day. The septic screen was negative, and the patient continued to spike fever while on broad-spectrum antimicrobial treatment. Due to an unexplained drop in his hematocrit, cranial ultrasound was done, and grade III IVH was identified. The patient continued to improve clinically, but the exact etiology of his IVH was not identified. His fever resolved without interventions, and his IVH continued to decrease in size. Serial cranial imaging was done in NICU, and no neurosurgical interventions were warranted. He was referred to neurosurgery and neurology and followed in the infant’s high-risk clinic. \u0000Discussion Sepsis is the top of differentials when managing a newborn infant in NICU. However, we must always keep our minds open to other differentials, including central hyperthermia. Extreme prematurity is a major risk factor for ICH/IVH in the neonatal period; nonetheless, other risk factors are identified, and many cases of ICH/IVH had no identified causative factor or even risk factors. \u0000Conclusion Identifying clinical presentation and risk factors associated with ICH and IVH in NICU patients is crucial for early diagnosis and offers appropriate management. A high index of suspicion is required to promptly diagnose ICH/IVH resulting in central fever and avoid unnecessary workup and treatment.","PeriodicalId":91032,"journal":{"name":"Journal of rare diseases and orphan drugs","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47558701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marwa El Masri, Carla Chikhani, H. Mansour, Rami Ghabril, D. Hamod, Andre Mgarbane, M. Sokhn
Abstract: Dihydrolipoamide dehydrogenase (DLD) deficiency is an autosomal recessive metabolic disorder characterized by an unpredictable pattern of presentation and a wide phenotypic spectrum. DLD is a common constituent of multiple mitochondrial complexes. It is also known as E3 (dihydrolipoamide: NAD+ oxidoreductase, EC 1.8.1.4). DLD, encoded by the DLD gene, is vital for catalysis. Thus, genetically induced deficiency of the enzyme, although very rare, is associated with failure to thrive, hypotonia, and metabolic acidosis [1,2]. In this report, we present the case of a 12-year-old Lebanese boy with a homozygous mutation in the DLD gene: c.685G>T p. Gly229Cys, who presented with liver failure, hyperammonemia, and encephalopathy. Genetic testing of his sibling revealed homozygosity for the same pathogenic variant.
{"title":"First Reported Lebanese Patient with Dihydrolipoamide Dehydrogenase Deficiency","authors":"Marwa El Masri, Carla Chikhani, H. Mansour, Rami Ghabril, D. Hamod, Andre Mgarbane, M. Sokhn","doi":"10.36013/jrdod.vi.114","DOIUrl":"https://doi.org/10.36013/jrdod.vi.114","url":null,"abstract":"Abstract: Dihydrolipoamide dehydrogenase (DLD) deficiency is an autosomal recessive metabolic disorder characterized by an unpredictable pattern of presentation and a wide phenotypic spectrum. DLD is a common constituent of multiple mitochondrial complexes. It is also known as E3 (dihydrolipoamide: NAD+ oxidoreductase, EC 1.8.1.4). DLD, encoded by the DLD gene, is vital for catalysis. Thus, genetically induced deficiency of the enzyme, although very rare, is associated with failure to thrive, hypotonia, and metabolic acidosis [1,2]. \u0000In this report, we present the case of a 12-year-old Lebanese boy with a homozygous mutation in the DLD gene: c.685G>T p. Gly229Cys, who presented with liver failure, hyperammonemia, and encephalopathy. Genetic testing of his sibling revealed homozygosity for the same pathogenic variant. ","PeriodicalId":91032,"journal":{"name":"Journal of rare diseases and orphan drugs","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43500283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
John C. Faircloth, T. Vasylyeva, Ma Cristine C Cabanas, N. Sankoorikkal
Multicystic dysplastic kidney (MCDK) is a common congenital condition in neonates caused by the abnormal formation of renal tissue into multiple fluid-filled cysts that are often dysplastic, affecting kidney function. [1] It has an incidence of 1:4300 live births and is more common in males than females, most often presenting unilaterally with a slightly higher percentage of cases affecting the left kidney. We present a case of a monochorionic diamniotic twin female, with twin A having multicystic dysplastic kidneys on the left and twin B having agenesis of the right kidney. Documented cases involving twins rarely involve both twins or, if so, infrequently in the contralateral kidneys of each twin, highlighting the complexity of renal development in utero.
{"title":"Multicystic dysplastic kidney and contralateral renal agenesis in a twin gestation: A case report","authors":"John C. Faircloth, T. Vasylyeva, Ma Cristine C Cabanas, N. Sankoorikkal","doi":"10.36013/jrdod.v3i.108","DOIUrl":"https://doi.org/10.36013/jrdod.v3i.108","url":null,"abstract":"Multicystic dysplastic kidney (MCDK) is a common congenital condition in neonates caused by the abnormal formation of renal tissue into multiple fluid-filled cysts that are often dysplastic, affecting kidney function. [1] It has an incidence of 1:4300 live births and is more common in males than females, most often presenting unilaterally with a slightly higher percentage of cases affecting the left kidney. We present a case of a monochorionic diamniotic twin female, with twin A having multicystic dysplastic kidneys on the left and twin B having agenesis of the right kidney. Documented cases involving twins rarely involve both twins or, if so, infrequently in the contralateral kidneys of each twin, highlighting the complexity of renal development in utero.","PeriodicalId":91032,"journal":{"name":"Journal of rare diseases and orphan drugs","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41974622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lucio Ortega, Saleena Ramzanali, Perla Mora, S. Kaylani, O. Adesanya
An extremely preterm male infant at 25.1 weeks gestation developed extreme hyperleukocytosis on Day of life (DOL) 3, with a peak white blood cell (WBC) count of 146.5 ×109/L on DOL 5. The patient was admitted to the NICU due to prematurity, respiratory distress, and suspected sepsis. Laboratory analyses were done to exclude sepsis with a leukemoid-like reaction, Down syndrome by karyotype, leukemia, or other myeloproliferative disorders. After a meticulous investigation and ruling out the most common causes of leukocytosis in preterm neonates, we concluded that the hyperleukocytosis in this extreme premature infant was likely caused by maternal chorioamnionitis and fetal funisitis as reported by placental pathology. We present this rare case of hyperleukocytosis in an extremely premature infant to highlight the importance of a thorough investigation, including sources of infection in the mother's history and placental pathology report, to determine the cause of hyperleukocytosis in the preterm neonates.
{"title":"Extreme Hyperleukocytosis in an Extremely Preterm Infant","authors":"Lucio Ortega, Saleena Ramzanali, Perla Mora, S. Kaylani, O. Adesanya","doi":"10.36013/jrdod.v3i.94","DOIUrl":"https://doi.org/10.36013/jrdod.v3i.94","url":null,"abstract":"An extremely preterm male infant at 25.1 weeks gestation developed extreme hyperleukocytosis on Day of life (DOL) 3, with a peak white blood cell (WBC) count of 146.5 ×109/L on DOL 5. The patient was admitted to the NICU due to prematurity, respiratory distress, and suspected sepsis. Laboratory analyses were done to exclude sepsis with a leukemoid-like reaction, Down syndrome by karyotype, leukemia, or other myeloproliferative disorders. After a meticulous investigation and ruling out the most common causes of leukocytosis in preterm neonates, we concluded that the hyperleukocytosis in this extreme premature infant was likely caused by maternal chorioamnionitis and fetal funisitis as reported by placental pathology. \u0000We present this rare case of hyperleukocytosis in an extremely premature infant to highlight the importance of a thorough investigation, including sources of infection in the mother's history and placental pathology report, to determine the cause of hyperleukocytosis in the preterm neonates.","PeriodicalId":91032,"journal":{"name":"Journal of rare diseases and orphan drugs","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47732148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mohammed A Azab, Emma R Dioso, Matthew C Findlay, Jayson Nelson, Cameron A Rawanduzy, Philip Johansen, Brandon Lucke-Wold
Dural Arteriovenous Fistulas (AVF) represent about 10% of all intracranial vascular lesions. Although they seem benign in nature, the presence of retrograde venous makes them aggressive, with a high risk of complications. Patients may be clinically asymptomatic or experience symptoms ranging from mild to severe hemorrhage, depending on their location. Different treatments are available, but recently, the development of catheter intervention allows most patients to be cured with transcatheter embolization. Stereotactic radiosurgery achieves excellent rates of obliteration for low-grade lesions. In this review, we try to highlight the recent advances in the management of dural AVF.
{"title":"UPDATE ON MANAGEMENT OF DURAL ARTERIOVENOUS FISTULAS.","authors":"Mohammed A Azab, Emma R Dioso, Matthew C Findlay, Jayson Nelson, Cameron A Rawanduzy, Philip Johansen, Brandon Lucke-Wold","doi":"10.36013/jrdod.v3i.102","DOIUrl":"10.36013/jrdod.v3i.102","url":null,"abstract":"<p><p>Dural Arteriovenous Fistulas (AVF) represent about 10% of all intracranial vascular lesions. Although they seem benign in nature, the presence of retrograde venous makes them aggressive, with a high risk of complications. Patients may be clinically asymptomatic or experience symptoms ranging from mild to severe hemorrhage, depending on their location. Different treatments are available, but recently, the development of catheter intervention allows most patients to be cured with transcatheter embolization. Stereotactic radiosurgery achieves excellent rates of obliteration for low-grade lesions. In this review, we try to highlight the recent advances in the management of dural AVF.</p>","PeriodicalId":91032,"journal":{"name":"Journal of rare diseases and orphan drugs","volume":"3 ","pages":"11-26"},"PeriodicalIF":0.0,"publicationDate":"2022-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33499822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ataxia-telangiectasia (AT) is a rare form of phakomatoses with multisystem lesions that are characterized by a specific neuro-cutaneous syndrome. AT is a multisystem disease that includes progressive clinical manifestations of cerebral ataxia, oculocutaneous telangiectasia, and increased susceptibility to cancer due to ionizing radiation sensitivity. Lack of awareness of this disease by medical providers could ultimately lead to a delay in diagnosis and increase morbidity in patients. This case study presents the history of a female adolescent patient, who was eventually placed in protective custody with congenital AT. She was clinically observed for fifteen years. This paper demonstrates the complexity of early diagnosis of AT in children. The importance of a comprehensive evaluation of neural and immunological systems, timely genetic testing, and aggressive treatment of infectious diseases is paramount in the formulation of an appropriate treatment plan. Early diagnosis and management significantly improve the prognosis and quality of life for these patients.
{"title":"The Complexity of Early Diagnosis of Congenital Ataxia: A Case Report.","authors":"O. Koreniuk, S. Ilchenko, Anne P. Hernandez","doi":"10.36013/jrdod.v2i.58","DOIUrl":"https://doi.org/10.36013/jrdod.v2i.58","url":null,"abstract":"Ataxia-telangiectasia (AT) is a rare form of phakomatoses with multisystem lesions that are characterized by a specific neuro-cutaneous syndrome. AT is a multisystem disease that includes progressive clinical manifestations of cerebral ataxia, oculocutaneous telangiectasia, and increased susceptibility to cancer due to ionizing radiation sensitivity. Lack of awareness of this disease by medical providers could ultimately lead to a delay in diagnosis and increase morbidity in patients. This case study presents the history of a female adolescent patient, who was eventually placed in protective custody with congenital AT. She was clinically observed for fifteen years. This paper demonstrates the complexity of early diagnosis of AT in children. The importance of a comprehensive evaluation of neural and immunological systems, timely genetic testing, and aggressive treatment of infectious diseases is paramount in the formulation of an appropriate treatment plan. Early diagnosis and management significantly improve the prognosis and quality of life for these patients.","PeriodicalId":91032,"journal":{"name":"Journal of rare diseases and orphan drugs","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42699562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Foreign body aspiration (FBA) is a common cause of mortality and morbidity in children. FBA is not always immediately diagnosed, partly because this diagnosis is not frequently in mind, but also because FBA does not have a specific clinical manifestation. FBA can be misdiagnosed as asthma, upper respiratory tract infection, pneumonia, or croup. Sometimes, FBA can be completely asymptomatic. We present the case with a delay in diagnosing FBA and discuss the appropriate management of suspected foreign body aspiration in a 6-year-old boy. This case illustrates the need for prompt action and a high level of suspicion in patients with prolonged symptoms and no resolution with standard treatment. Diagnosis should always be based on a combination of data obtained from the clinical history, physical examination, and radiographic findings. However, the normal appearance of a chest X-ray does not exclude the possibility of FBA.
{"title":"An Unusual Case of Foreign Body Aspiration in 6-year-old Boy","authors":"S. Ilchenko, A. Fialkovska, S. Shchudro","doi":"10.36013/JRDOD.V2I.55","DOIUrl":"https://doi.org/10.36013/JRDOD.V2I.55","url":null,"abstract":"Foreign body aspiration (FBA) is a common cause of mortality and morbidity in children. FBA is not always immediately diagnosed, partly because this diagnosis is not frequently in mind, but also because FBA does not have a specific clinical manifestation. FBA can be misdiagnosed as asthma, upper respiratory tract infection, pneumonia, or croup. Sometimes, FBA can be completely asymptomatic. We present the case with a delay in diagnosing FBA and discuss the appropriate management of suspected foreign body aspiration in a 6-year-old boy. This case illustrates the need for prompt action and a high level of suspicion in patients with prolonged symptoms and no resolution with standard treatment. Diagnosis should always be based on a combination of data obtained from the clinical history, physical examination, and radiographic findings. However, the normal appearance of a chest X-ray does not exclude the possibility of FBA.","PeriodicalId":91032,"journal":{"name":"Journal of rare diseases and orphan drugs","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41802612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare and poorly understood condition that is likely underdiagnosed. The possibility that uveitis and acute tubulointerstitial nephritis do not occur simultaneously may make diagnosis more difficult. Treatment consists of systemic corticosteroids and potentially non-steroid immunosuppressants. Renal disease usually resolves spontaneously or with appropriate treatment, however, ocular manifestations may be chronic or relapsing. We report a case of tubulointerstitial nephritis and uveitis syndrome in a 12-year-old female.
{"title":"An Adolescent Girl with Tubulointerstitial Nephritis and Uveitis (TINU) Syndrome","authors":"Hana Setterquist, K. Stepka","doi":"10.36013/JRDOD.V2I.41","DOIUrl":"https://doi.org/10.36013/JRDOD.V2I.41","url":null,"abstract":"Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare and poorly understood condition that is likely underdiagnosed. The possibility that uveitis and acute tubulointerstitial nephritis do not occur simultaneously may make diagnosis more difficult. Treatment consists of systemic corticosteroids and potentially non-steroid immunosuppressants. Renal disease usually resolves spontaneously or with appropriate treatment, however, ocular manifestations may be chronic or relapsing. We report a case of tubulointerstitial nephritis and uveitis syndrome in a 12-year-old female.","PeriodicalId":91032,"journal":{"name":"Journal of rare diseases and orphan drugs","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45140087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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