Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression

2021 ◽  
pp. 1-6
Author(s):  
Flavio Giordano ◽  
Matteo Lenge ◽  
Pierarturo Donati ◽  
Lorenzo Mongardi ◽  
Gianpiero Di Giacomo ◽  
...  
Keyword(s):  
Fecal Incontinence ◽  
Neurogenic Bladder ◽  
Genetic Disorder ◽  
Motor Impairment ◽  
Foramen Magnum ◽  
Clinical Findings ◽  
Lumbar Stenosis ◽  
Endochondral Bone ◽  
Case Presentation ◽  
First Case

<b><i>Introduction:</i></b> Achondroplasia is a genetic disorder characterized by defects in the development of endochondral bone resulting in skeletal abnormalities like stenosis of the foramen magnum and of the spine, shortened limb bones, and macrocephaly. Congenital spinal stenosis is frequent and due to premature fusion of the pedicles to the laminae. <b><i>Case Presentation:</i></b> We report a case of neurogenic bladder and fecal incontinence due to lumbar stenosis successfully treated with L1–L5 partial laminectomy and foraminotomy in a 7-year-old achondroplasic child. <b><i>Discussion/Conclusion:</i></b> To our knowledge, this is the first case report of exclusive neurogenic bladder and fecal incontinence in an achondroplasic child. Neurogenic bladder and fecal incontinence without motor impairment may be early and exclusive clinical findings of lumbar stenosis in children with achondroplasia.

Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13

2020 ◽  
Vol 33 (1) ◽  
pp. 157-163 ◽  
Author(s):  
Melis Demir Köse ◽  
Mehtap Kagnici ◽  
Taha Reşit Özdemir ◽  
Cahit Barış Erdur ◽  
Gülin Erdemir ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Genetic Disorder ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Case Series ◽  
Clinical Findings ◽  
First Case ◽  
Age Related ◽  
Citrin Deficiency ◽  
Turkish Patients

AbstractBackgroundCitrin deficiency (CD) is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. Three clinical manifestations have been described until today.Case presentationWe reported 5 CD patients from two families. Four patients were male and one patient was female. Two of them have NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency); three of them have CTLN2 (adult-onset type II citrullinemia). Both NICCD patients showed typical clinical and biochemical changes with a diagnosis confirmed by mutations in the SLC25A13 gene. We detected a previously unreported homozygous novel mutation c.478delC (L160Wfs*36 ) on the SLC25A13 gene. All of the CTLN2 patients were siblings. Proband was a 15-year-old mentally retarded and autistic male who had admitted to our emergency with disorientation. Laboratory data showed hyperammonemia and citrullinemia.ConclusionsTwo different profiles of age-related CD have been depicted with this article. It has been aimed to underline that the CD can be observed in different forms not only in neonatals or little infants but also in adolescents. This article is the first case series that covers both NICCD and CTLN2 cases together and that has been published in Turkey. Considering the fact that especially the majority of CTLN2 cases have been identified in Asian countries, our article has vital importance in terms of defining phenotypic features of the disease.

scholarly journals Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Makoto Nakagawa ◽  
Eisuke Kobayashi ◽  
Masayoshi Yamada ◽  
Tomoko Watanabe ◽  
Makoto Hirata ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Analysis ◽  
High Frequency ◽  
Sebaceous Gland ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Small Subset ◽  
Case Presentation ◽  
Germline Variant ◽  
First Case

Abstract Background Muir–Torre syndrome (MTS), which accounts for a small subset (1–3 %) of Lynch syndrome (LS), is an autosomal dominant genetic disorder characterized by sebaceous gland or keratoacanthoma associated with visceral malignancies. Most families with MTS have pathogenic germline variants (PGV) in MSH2. Sarcomas are not common on the LS tumor spectrum, and sarcomas associated with MTS are extremely rare. Case presentation Here we report a myxofibrosarcoma of the abdominal wall in a 73-year-old man with a sebaceoma that occurred synchronically, leading to a diagnosis of MTS. The loss of MLH1 and PMS2 protein expression was detected in immunohistochemistry, and high-frequency microsatellite instability (MSI-H) was also confirmed. A germline genetic analysis revealed that he harbored the MLH1 PGV. Conclusions This is the first case of MSI-H myxofibrosarcoma with MTS in an MLH1 PGV carrier. Although rare, we should recognize that sarcomas can be part of the spectrum of LS and MTS.

Anesthesia in Carvajal syndrome; the first case report

2020 ◽  
Vol 24 (1) ◽  
pp. 105-107
Author(s):  
Sedighe Shahhosseini ◽  
Reza Aminnejad ◽  
Amir Shafa ◽  
Mehrdad Memarzade
Keyword(s):  
Intensive Care ◽  
Case Report ◽  
Surgical Resection ◽  
Genetic Disorder ◽  
Anesthetic Technique ◽  
Close Monitoring ◽  
Anesthesia Management ◽  
Rare Genetic Disorder ◽  
First Case ◽  
Anesthetic Considerations

Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic considerations in such patients. As in any other challenging scenario, it should be kept in mind that ‘there is no safest anesthetic agent, nor the safest anesthetic technique; there is only the safest anesthesiologist’. Citation: Shahhosseini S, Aminnejad R, Shafa A, Memarzadeh M. Anesthesia in Carvajal syndrome; the first case report. Anaesth pain intensive care 2020;24(1):___ DOI: https://doi.org/10.35975/apic.v24i1.

scholarly journals Immediate post partum macular subretinal bleeding in a highly myopic patient: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Karen Bitton ◽  
J.-L. Bacquet ◽  
F. Amoroso ◽  
S. Mrejen ◽  
M. Paques ◽  
...  
Keyword(s):  
Valsalva Maneuver ◽  
Post Partum ◽  
Pathologic Myopia ◽  
Pathological Myopia ◽  
Case Presentation ◽  
Sudden Loss ◽  
Corrected Visual Acuity ◽  
First Case ◽  
History Of ◽  
Macular Hemorrhage

Abstract Background Pathologic myopia is a major cause of visual impairment and blindness. Case presentation We report a case of an immediate post partum macular subretinal bleeding observed in a highly myopic patient. A 30-years-old woman presented two days after childbirth for sudden loss of vision in her right eye. Multimodal imaging showed macular hemorrhage masking a subtle yellowish linear lesion corresponding to lacker crack. Due to the lack of evidence for choroidal neovascularization, a simple clinical and imaging monitoring was recommended. Six weeks later, we noted an improvement in her best-corrected visual acuity and a decreased in size of the macular hemorrhage. Conclusions This is the first case reporting a macular subretinal bleeding on macular lacquer cracks in a highly myopic patient in immediate post partum. Valsalva maneuver associated with vaginal delivery could explain the occurrence of the hemorrhage associated with lacquer crack. However, natural history of pathological myopia could not be excluded.

scholarly journals Emphysematous pyelonephritis with air bubble in the inferior vena cava

2020 ◽  
Vol 26 (1) ◽  
Author(s):  
Tiffany A. Perkins ◽  
Alberic Rogman ◽  
Murali K. Ankem
Keyword(s):  
Septic Shock ◽  
Inferior Vena Cava ◽  
Inferior Vena ◽  
Vena Cava ◽  
Rare Presentation ◽  
Emphysematous Pyelonephritis ◽  
Case Presentation ◽  
Air Bubble ◽  
First Case ◽  
The Right

Abstract Background Emphysematous pyelonephritis (EPN) with gas in the inferior vena cava (IVC) is a rare presentation and to our knowledge, this is the first case report in the urologic literature. Case presentation A 35-Year-old obese diabetic Hispanic female presented to the emergency room with a clinical picture of septic shock. Prompt computerized tomography scan revealed EPN with gas throughout the right renal parenchyma and extending to the right renal vein, IVC, and pulmonary artery. She died before surgical intervention Conclusion This case demonstrates that patients presenting with severe EPN have a high mortality risk and providers should acknowledge that septic shock, endogenous air emboli, or a combination of both could result in cardiovascular collapse and sudden death.

scholarly journals Robotic-assisted proximal gastrectomy using the double-flap technique for early gastric cancer with situs inversus totalis: a case report

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Atsushi Takeno ◽  
Toru Masuzawa ◽  
Shinsuke Katsuyama ◽  
Kohei Murakami ◽  
Kenji Kawai ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Situs Inversus ◽  
Autosomal Recessive ◽  
Intraoperative Complications ◽  
Proximal Gastrectomy ◽  
Situs Inversus Totalis ◽  
Upper Body ◽  
Robot Assisted ◽  
Case Presentation ◽  
First Case

Abstract Background The robotic system has been applied in the treatment of gastric cancer (GC), and the procedure has been found to be safe and feasible. Situs inversus totalis (SIT) is a relatively rare autosomal recessive congenital anomaly. We successfully performed robot-assisted proximal gastrectomy (RAPG) and handsewn double-flap esophagogastrostomy for GC in a patient with SIT. Case presentation A 71-year-old woman was referred to us with an asymptomatic ulcerative lesion in the upper body of the stomach. Computed tomography revealed that she had SIT. She was diagnosed with cT1bN0M0, cStageIA gastric cancer. RAPG with lymph node dissection and handsewn double-flap esophagogastrostomy was performed. Robotic surgery enabled the surgeon to perform the surgery without changing his position and experiencing any confusion resulting from the patient’s reversed anatomy. It took 448 min, and no intraoperative complications occurred. Her postoperative course was uneventful; she was discharged on postoperative day 10. The final pathologic report showed pT1b1N0M0, pStage IA. Conclusions This is the first case describing RAPG with handsewn double-flap esophagogastrostomy for a SIT patient with early GC.

Fetal pulmonary choristoma: report of first case and literature review

2020 ◽  
Vol 9 (1) ◽  
Author(s):  
Anupam Nanda ◽  
Rajinder Nanda ◽  
Seema Thakur ◽  
Tej Prakash Gupta ◽  
Sudhir Jain ◽  
...  
Keyword(s):  
Literature Review ◽  
Exome Sequencing ◽  
Posterior Fossa ◽  
Spinal Column ◽  
Fetal Autopsy ◽  
Case Presentation ◽  
Antenatal Ultrasound ◽  
Clinical Exome Sequencing ◽  
First Case ◽  
Pathologic Findings

AbstractObjectivesLung tissue choristoma is a very rare disorder where mature lung tissues develop in the site not normal to the lung.Case presentationWe hereby report a first case of fetal pulmonary choristoma in a 23–24 weeks fetus where antenatal ultrasound showed a mass in posterior fossa with severe ventriculomegaly. The mass extended inferiorly in cervical spinal column and thereafter extended in the skin over the back of fetus. Fetal autopsy confirmed these findings. Pathologic findings showed mature lung tissues with bronchi, bronchioles, and alveoli. Clinical exome sequencing showed normal results.ConclusionsWe describe the antenatal ultrasound, fetal autopsy and pathologic findings of an intracranial and cutaneous pulmonary choristoma.

scholarly journals First reported case of penile prosthesis infection from brucellosis: case report

2020 ◽  
Vol 26 (1) ◽  
Author(s):  
Nabil Nabil Moohialdin ◽  
Ahmad Shamsodini ◽  
Steven K. Wilson ◽  
Osama Abdeljaleel ◽  
Ibrahim Alnadhari ◽  
...  
Keyword(s):  
Case Report ◽  
Broad Spectrum ◽  
Surgical Intervention ◽  
Penile Prosthesis ◽  
Raw Milk ◽  
Prosthesis Infection ◽  
Case Presentation ◽  
First Case ◽  
Milk Ingestion

Abstract Background Infection after the penile prosthesis can be devastating to both the patient and surgeon with various complications and consequences. After introduction of antibiotic-coated implants, the rate of infection has dramatically decreased, but still we see uncommon organisms causing infection. We present a first case report of penile prosthesis infection by brucellosis due to raw milk ingestion. To our knowledge, this is the first reported case of brucellosis penile prosthesis infection. Case presentation We present a first case report of penile prosthesis infection by brucellosis due to raw milk ingestion. A 75-year-old, diabetic male patient presented with penile prosthesis infection 5 months post-penile exchange surgery due to mechanical malfunctioning of 2-piece penile prosthesis which was inserted 11 years ago. The initial treatment with broad spectrum antibiotics did not subside the infection. After diagnosis of brucellosis, the antibiotic was changed to anti-brucellosis (Rifampicin + Tetracycline). The patient improved dramatically and was discharged home with smooth follow-up course. Conclusion Brucellosis can cause infection of penile prosthesis and can be treated with anti-brucellosis antibiotics without necessitating surgical intervention and removal of prosthesis.

A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Raquel Lahoz Alonso ◽  
Paula Sienes Bailo ◽  
Jose Luis Capablo Liesa ◽  
Sara Álvarez de Andrés ◽  
Jose Luis Bancalero Flores ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Neurological Disease ◽  
Motor Impairment ◽  
Lower Limbs ◽  
Case Presentation ◽  
Genetic Sequencing ◽  
Charcot Marie Tooth ◽  
Sensory Motor ◽  
Exacerbation Of Symptoms ◽  
Over Time

AbstractObjectivesDescribe a case with axonal Charcot-Marie-Tooth (CMT) type 2W, a neurological disease characterized by peripheral neuropathy typically involving the lower limbs and causing gait alterations and distal sensory-motor impairment.Case presentationWe report this case, where the application of massive genetic sequencing (NGS) with clinical exome in a molecular genetics laboratory enabled to detect the presence of candidate variants of the clinic of the patient.ConclusionsThe variant detected in HARS gene suggests that this variant could be causative of the symptoms of the patient, who went undiagnosed for 20 years and experienced an exacerbation of symptoms over time.

scholarly journals Van Buchem Disease: First Case Report from the Indian Subcontinent with an Early Presentation

2021 ◽  
Vol 11 (01) ◽  
pp. e38-e41
Author(s):  
Saurabh Maheshwari ◽  
Sonam Yangzom ◽  
K. Uday Bhanu ◽  
Uddandam Rajesh ◽  
Ashok Narayan
Keyword(s):  
Western Europe ◽  
Indian Subcontinent ◽  
Genetic Disorder ◽  
Rare Condition ◽  
Bone Dysplasia ◽  
Feedback Mechanism ◽  
Early Presentation ◽  
First Case ◽  
Cranial Nerve Palsies ◽  
Van Buchem Disease

AbstractVan Buchem disease is a rare autosomal recessive genetic disorder that causes a compromised inhibitory feedback mechanism resulting in increased bone formation and overgrowth of the skeleton leading to a variety of neurological symptoms. It has been reported in less than 50 patients most of which were in western Europe. We report the first case of this condition from the Indian subcontinent with an early presentation. This patient presented with a global delay in attaining the developmental milestones and progressive reduction in visual acuity and loss of hearing. He had dysmorphic facies, multiple cranial nerve palsies, and severe visual and auditory deficits. Imaging revealed sclerosing bone dysplasia. This case illustrates the clinical and imaging findings of this rare condition.

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