The Case of the Missing Nose: Congenital Arhinia Case Presentation and Management Recommendations

2020 ◽  
Vol 129 (7) ◽  
pp. 645-648
Author(s):  
Andrew K. Fuller ◽  
Hilary C. McCrary ◽  
M. Elise Graham ◽  
Jonathan R. Skirko
Keyword(s):  
Neonatal Period ◽  
Rare Condition ◽  
Male Infant ◽  
Nasal Patency ◽  
Review Of The Literature ◽  
Resonance Imaging ◽  
Case Presentation ◽  
Magnetic Resonance Imaging Mri ◽  
Management Recommendations ◽  
Work Up

Objectives: To discuss the presentation and management of infants with arhinia or congenital absence of the nose. Methods: This case report describes an infant with arhinia that was diagnosed prenatally. In addition to a discussion of the case, a review of the literature was completed to define appropriate postnatal work-up and management. Results: The patient is a term male infant, diagnosed with arhinia on ultrasound and magnetic resonance imaging (MRI) performed at 21-weeks gestational age. Upon birth, the patient was subsequently intubated, followed by tracheostomy due to complete nasal obstruction. Through a genetics evaluation, the patient was found to be heterozygous for the SMCHD1 gene, with hypomethylation at the D4Z4 locus. Plans for reconstruction will be based on future imaging and the development of any nasal patency, however, the patient’s family plans to utilize a prosthetic nose until the patient is older. Conclusion: Arhinia is a rare condition causing respiratory distress in the neonatal period. While stabilization of the airway is the first priority, further management is not clearly defined given the rarity of the malformation. This case discusses stabilization of the airway with a review of treatment and reconstructive options.

scholarly journals Colon Adenocarcinoma during Pregnancy: A Case Report and Review of the Literature

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Paolo Petruzzelli ◽  
Roberto Zizzo ◽  
Elisabetta Tavassoli ◽  
Miriam Sutera ◽  
Michela Chiadò Fiorio Tin ◽  
...  
Keyword(s):  
Clinical Course ◽  
Colon Adenocarcinoma ◽  
Male Infant ◽  
Exploratory Laparotomy ◽  
Review Of The Literature ◽  
Resonance Imaging ◽  
Local Hospital ◽  
Descending Colon ◽  
Magnetic Resonance Imaging Mri

Colorectal cancer (CRC) during pregnancy presents an estimated incidence of 1 : 13,000, and it is associated with diagnostic and therapeutic challenges. Here, we present the case of a 38-year-old woman, 25 weeks and 5 days pregnant, who was transferred to our Obstetrics and Gynecology Department from a local hospital with the diagnosis of intestinal obstruction. Magnetic Resonance Imaging (MRI) showed marked distension with hydroaerial levels of the enterocolic loops upstream of a concentric parietal thickening of the descending colon, stenosing, extended longitudinally for about 4 cm. An exploratory laparotomy was performed with resection of the colon splenic flexure and mechanical end-terminal anastomosis. Histological examination of the operating piece highlighted the presence of moderately differentiated (G2) colon adenocarcinoma (stage pT3N1b). The operation was followed by a single course of oxaliplatin and 5-FU plus leukovorin. The patient had a vaginal delivery at 37   weeks + 2 days of gestational age, following induction of labor and giving birth to a male infant whose weight was 2670 gr with apgar 9/9. We underline the pivotal role of attention to unspecific symptoms, early diagnosis, and active treatment in changing the clinical course of CRC.

scholarly journals Co-Morbidity of Pituitary Adenoma and Frontal Convexity Meningioma: A Case Report and Review of the Literature

2020 ◽  
Vol 7 (3) ◽  
pp. 153-155
Author(s):  
Thi Phuong Hoai Dinh ◽  
Dang Thi Mai ◽  
Van Tri Truong
Keyword(s):  
Pituitary Adenoma ◽  
Serum Prolactin ◽  
Clinical Scenario ◽  
Intracranial Tumors ◽  
Review Of The Literature ◽  
Resonance Imaging ◽  
Case Presentation ◽  
Medical Observation ◽  
Co Morbidity ◽  
Magnetic Resonance Imaging Mri

Instruction: The current study reports a woman with pituitary adenoma and frontal convexity meningioma that was detected accidentally. To the best of our knowledge, this case is considered as a rare clinical scenario. Case Presentation: A 37 years old woman suffering from amenorrhea and galactorrhea had her detail investigation showed hyperprolactinemia. The patient was diagnosed with a prolactinoma, and a frontal convexity meningioma was discovered on magnetic resonance imaging (MRI). The prolactinoma controlled with Bromocriptine therapy, while the meningioma monitored through medical observation. After two months of pharmaceutical medication, her symptoms improved with the decrease in serum prolactin. Conclusion: Thanks to sophisticated MRI techniques, meningioma and prolactinoma were incidentally detected. It should be noted that co-morbidity of prolactinoma and meningioma is very rare. The mechanism of the association between these two familiar types of intracranial tumors has not yet been clarified, which indicates the need for further studies to offer possible targeted treatment for patients.

scholarly journals Laparoscopic surgical management of a mature presacral teratoma: a case report

2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Liming Wang ◽  
Yasumitsu Hirano ◽  
Toshimasa Ishii ◽  
Hiroka Kondo ◽  
Kiyoka Hara ◽  
...  
Keyword(s):  
Laparoscopic Resection ◽  
Mature Teratoma ◽  
Skin Incision ◽  
Histopathological Diagnosis ◽  
Tailgut Cyst ◽  
Resonance Imaging ◽  
Presumptive Diagnosis ◽  
Case Presentation ◽  
Contrast Enhanced ◽  
Magnetic Resonance Imaging Mri

Abstract Background Mature presacral (retrorectal) teratoma is very rare. We report a case in which a mature retrorectal teratoma in an adult was successfully treated with laparoscopic surgery. Case presentation A 44-year-old woman was diagnosed with a presacral tumor during a physical examination. Endoscopic ultrasonography (EUS) revealed a multilocular cystic lesion; the lesion was on the left side of the posterior rectum and measured approximately 30 mm in diameter on both contrast-enhanced pelvic computed tomography (CT) and magnetic resonance imaging (MRI). The presumptive diagnosis was tailgut cyst. However, the histopathological diagnosis after laparoscopic resection was mature teratoma. It is still difficult to preoperatively diagnose mature retrorectal teratomas. Conclusions Laparoscopic resection of mature retrorectal teratomas is a feasible and promising method that is less invasive and can be adapted without extending the skin incision.

scholarly journals Lymphangiography and focal pleurodesis treatment of chylothorax with an aberrant thoracic duct following oesophagectomy: a case report

2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Tomoyuki Ishida ◽  
Jun Kanamori ◽  
Hiroyuki Daiko
Keyword(s):  
Magnetic Resonance Imaging ◽  
Interventional Radiology ◽  
Case Report ◽  
Magnetic Resonance ◽  
Thoracic Duct ◽  
Rare Case ◽  
Resonance Imaging ◽  
Case Presentation ◽  
Thoracostomy Tube ◽  
Magnetic Resonance Imaging Mri

Abstract Background Management of postoperative chylothorax usually consists of nutritional regimens, pharmacological therapies such as octreotide, and surgical therapies such as ligation of thoracic duct, but a clear consensus is yet to be reached. Further, the variation of the thoracic duct makes chylothorax difficult to treat. This report describes a rare case of chylothorax with an aberrant thoracic duct that was successfully treated using focal pleurodesis through interventional radiology (IVR). Case presentation The patient was a 52-year-old man with chylothorax after a thoracoscopic oesophagectomy for oesophageal cancer. With conventional therapy, such as thoracostomy tube, octreotide or fibrogammin, a decrease in the amount of chyle was not achieved. Therefore, we performed lymphangiography and pleurodesis through IVR. The patient appeared to have an aberrant thoracic duct, as revealed by magnetic resonance imaging (MRI); however, after focal pleurodesis, the leak of chyle was diminished, and the patient was discharged 66 days after admission. Conclusions Chylothorax remains a difficult complication. Focal pleurodesis through IVR can be one of the options to treat chylothorax.

Extensive Extraneural Metastases of Cerebral Glioblastoma in a Pediatric Patient: An Extreme Case Report and Comprehensive Review of the Literature

2021 ◽  
pp. 1-6
Author(s):  
Kadir Oktay ◽  
Dogu Cihan Yildirim ◽  
Arbil Acikalin ◽  
Kerem Mazhar Ozsoy ◽  
Nuri Eralp Cetinalp ◽  
...  
Keyword(s):  
Case Report ◽  
Pediatric Patients ◽  
Extreme Case ◽  
Rare Condition ◽  
Review Of The Literature ◽  
Pertinent Literature ◽  
Cervical Lymph Nodes ◽  
Case Presentation ◽  
Comprehensive Review ◽  
Extraneural Metastases

<b><i>Introduction:</i></b> Extraneural metastases of glioblastoma are very rare clinical entities, especially in pediatric patients. Because of their rarity, they can be confused with other pathological processes. <b><i>Case Presentation:</i></b> We report a case of 16-year-old boy with extensive extraneural metastases of glioblastoma. Lung, liver, cervical lymph nodes, skin, and bone metastases were detected in the patient. <b><i>Conclusion:</i></b> We describe the presentation, evaluation, and diagnosis of this rare condition with regard to pertinent literature.

scholarly journals Pulvinar sign in a case of anti-HU paraneoplastic encephalitis

2016 ◽  
Vol 29 (6) ◽  
pp. 436-439 ◽  
Author(s):  
Pierre-Luc Gamache ◽  
Maude-Marie Gagnon ◽  
Martin Savard ◽  
François Émond
Keyword(s):  
Magnetic Resonance Imaging ◽  
Differential Diagnosis ◽  
Magnetic Resonance ◽  
Clinical Manifestations ◽  
Resonance Imaging ◽  
Paraneoplastic Encephalitis ◽  
Jakob Disease ◽  
Magnetic Resonance Imaging Mri ◽  
Work Up

This article reports the case of a 68-year-old patient with anti-HU antibodies paraneoplastic encephalitis. The clinical manifestations were atypical and the paraclinical work-up, notably the magnetic resonance imaging (MRI) showing bilateral posterior thalamic hyperintensities (pulvinar sign), misleadingly pointed towards a variant Creutzfeld–Jakob disease. After presenting the case, the differential diagnosis of the pulvinar sign is discussed along with other important diagnostic considerations.

scholarly journals Hypertrophy of the abductor hallucis muscle: A case report and review of the literature

2017 ◽  
Vol 5 ◽  
pp. 2050313X1772763 ◽  
Author(s):  
Toshinori Kurashige
Keyword(s):  
Rare Case ◽  
Muscle Hypertrophy ◽  
Pathological Condition ◽  
Rare Condition ◽  
Review Of The Literature ◽  
Resonance Imaging ◽  
Abductor Hallucis ◽  
Medial Plantar Nerve ◽  
Abductor Hallucis Muscle ◽  
Entrapment Syndromes

Objectives: Muscle hypertrophy is a relatively rare condition that may cause nerve entrapment syndromes. We report the case of a 14-year-old girl with unilateral hypertrophy of the abductor hallucis muscle with entrapment of the medial plantar nerve and review the literature. Methods: Computed tomography and magnetic resonance imaging revealed unilateral hypertrophy of the abductor hallucis muscle. Results: Two injections of steroid and lidocaine at the point of tenderness resulted in resolution of the pain. Conclusions: We report a rare case of hypertrophy of the abductor hallucis muscle considered with entrapment of the medial plantar nerve. Treatment of this condition should be selected according to the pathological condition of each patient.

Reappraisal of left‐sided gallbladder and its accompanying anomalies: a report of two cases and literature review

2005 ◽  
Vol 46 (3) ◽  
pp. 233-236 ◽  
Author(s):  
T. ‐C. Wu ◽  
R. ‐C. Lee ◽  
J. ‐H. Chiang ◽  
C. ‐Y. Chang
Keyword(s):  
Magnetic Resonance Imaging ◽  
Portal Vein ◽  
Three Dimensional ◽  
Ligamentum Teres ◽  
Hepatobiliary Surgery ◽  
Resonance Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
Anatomical Information ◽  
Preoperative Work Up ◽  
Work Up

We report two cases of coexistent left‐sided gallbladder and right‐sided ligamentum teres with portal vein anomalies documented by magnetic resonance imaging (MRI) and three‐dimensional (3D) computed tomography during arterial portography (CTAP). Reformatted 3D MR and CTAP images provide an informative illustration of the accompanying portal vein anomalies. This important anatomical information is useful in preoperative work‐up of hepatobiliary surgery.

scholarly journals Non traumatic spinal epidural haematoma

2019 ◽  
Vol 18 (4) ◽  
pp. 255-258
Author(s):  
Naureen Abdul Khalid ◽  
◽  
Nainal Shah ◽  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Trauma Surgery ◽  
Epidural Haematoma ◽  
Rare Condition ◽  
Sudden Onset ◽  
Resonance Imaging ◽  
Spinal Epidural Haematoma ◽  
History Of ◽  
Magnetic Resonance Imaging Mri ◽  
Spinal Epidural

Spinal epidural haematoma is a rare condition, which may be due to trauma, surgery, epidural catheterisation or disorders of coagulation. We report a case of 60 year old lady who was on warfarin for Atrial fibrillation (AF) presented with history of non-traumatic sudden onset pain in both legs and difficulty in walking. Magnetic resonance imaging (MRI) spine demonstrated epidural haematoma which was treated conservatively. Another dilemma was anticoagulation for AF. We examine the options to manage such case.

scholarly journals Ectopic ACTH syndrome: our experience with 25 cases

2006 ◽  
Vol 155 (5) ◽  
pp. 725-733 ◽  
Author(s):  
Luiz Roberto Salgado ◽  
Maria Candida B Villares Fragoso ◽  
Mirta Knoepfelmacher ◽  
Marcio Carlos Machado ◽  
Sorahia Domenice ◽  
...  
Keyword(s):  
Outcome Data ◽  
Pancreatic Tumors ◽  
Ectopic Acth Syndrome ◽  
Dynamic Tests ◽  
Resonance Imaging ◽  
Ectopic Acth ◽  
Suppression Test ◽  
Magnetic Resonance Imaging Mri ◽  
Work Up ◽  
Dexamethasone Suppression

Objective: Ectopic ACTH syndrome (EAS) occurs in about 5–10% of all patients with ACTH-dependent hypercortisolism with most of them caused by intrathoracic neoplasms. It may be associated with overt malignancies or with occult and indolent tumors. We assessed the accuracy of dynamic tests, inferior petrosal sinus sampling (IPSS) using desmopressin, and imaging in the work-up diagnosis of EAS. Design and subjects: Tumor markers, imaging, and outcome data from 25 patients (13F/12M) aged 18–72 years. High dexamethasone suppression test (HDDST), desmopressin test, GHRP-6 test, corticotropin-releasing hormone (CRH) test, IPSS, computed tomography (CT), magnetic resonance imaging (MRI), and 111In-pentetreotide scintigraphy were revised. Results: In 5 out of 20 patients HDDST was positive. In 13 patients who underwent desmopressin test, ACTH- and cortisol-positive responses were seen in six and five patients respectively. GHRP-6 test was positive in two out of three cases. Two patients underwent CRH test with negative response. In the seven patients submitted to IPSS using desmopressin in six of them, none had ACTH gradients. CT was positive in 15 out of 21 patients and MRI in 8 out of 17 cases. 111In-pentetreotide scintigraphy was positive in three out of five patients. Fourteen patients had intrathoracic tumors, five had pheochromocytomas, three had pancreatic tumors, one had a glomic tumor, and had three occult tumors. Six out of 11 patients with metastasis died and 3 others without metastasis died. Conclusions: IPSS with desmopressin was helpful for differential diagnosis. Patients initially harboring occult carcinoids may also exhibit severe hypercortisolism and those harboring tymic carcinoids had poor prognoses when compared with bronchial carcinoids and pheocromocytomas.

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