CASE REPORT: RARE FORM OF HIRSCHPRUNG’S DISEASE

2020 ◽  
Vol 30 (5) ◽  
pp. 82-84
Author(s):  
Ilja Skalskis
Keyword(s):  
Down Syndrome ◽  
Case Report ◽  
Clinical Symptoms ◽  
Hirschsprung Disease ◽  
Distal Colon ◽  
Total Colonic Aganglionosis ◽  
Sphincter Function ◽  
Anal Sphincter Function ◽  
History Of ◽  
High Index Of Suspicion

Hirschsprung disease (HD) is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. Incidence of total colonic aganglionosis (TCA) is 1 in 500 000 and it accounts for 5-10% of all cases of HD. HD should be suspected in patients with typical clinical symptoms and a high index of suspicion is appropriate for infants with a predisposing condition such as Down Syndrome (DS), or for those with a family history of HD. The treatment of choice for HD is surgical, such as Swenson, Soave, and Duhamel procedures. The goals are to resect the affected segment of the colon, bring the normal ganglionic bowel down close to the anus, and preserve internal anal sphincter function. We present a clinical case report of TCA in a child with Down syndrome (DS) and review of literature.

An Obscure Colon Dilatation and its Underlying Cause: Case Report and Literature Review

2020 ◽  
pp. 1-5
Author(s):  
Anton Stift ◽  
Kerstin Wimmer ◽  
Felix Harpain ◽  
Katharina Wöran ◽  
Thomas Mang ◽  
...  
Keyword(s):  
Case Report ◽  
Sigmoid Colon ◽  
Immunohistochemical Staining ◽  
Late Onset ◽  
Hirschsprung Disease ◽  
Endoscopic Examination ◽  
Case Presentation ◽  
Idiopathic Megacolon ◽  
History Of ◽  
Cells Of Cajal

Introduction: Congenital as well as acquired diseases may be responsible for the development of a megacolon. In adult patients, Clostridium difficile associated infection as well as late-onset of Morbus Hirschsprung disease are known to cause a megacolon. In addition, malignant as well as benign colorectal strictures may lead to intestinal dilatation. In case of an idiopathic megacolon, the underlying cause remains unclear. Case Presentation: We describe the case of a 44-year-old male patient suffering from a long history of chronic constipation. He presented himself with an obscurely dilated large intestine with bowel loops up to 17 centimeters in diameter. Radiological as well as endoscopic examination gave evidence of a spastic process in the sigmoid colon. The patient was treated with a subtotal colectomy and the intraoperative findings revealed a stenotic stricture in the sigmoid colon. Since the histological examination did not find a conclusive reason for the functional stenosis, an immunohistochemical staining was advised. This showed a decrease in interstitial cells of Cajal (ICC) in the stenotic part of the sigmoid colon. Discussion: This case report describes a patient with an idiopathic megacolon, where the underlying cause remained unclear until an immunohistochemical staining of the stenotic colon showed a substantial decrease of ICCs. Various pathologies leading to a megacolon are reviewed and discussed.

A Longitudinal Study of Atlanto-Dens Relationships in Asymptomatic Individuals with Down Syndrome

PEDIATRICS ◽  
1992 ◽  
Vol 89 (6) ◽  
pp. 1194-1198 ◽  
Author(s):  
Siegfried M. Pueschel ◽  
Francis H. Scola ◽  
John C. Pezzullo
Keyword(s):  
Down Syndrome ◽  
Clinical Symptoms ◽  
Age Groups ◽  
Atlantoaxial Instability ◽  
History Of ◽  
Child Development Center ◽  
Asymptomatic Individuals ◽  
Development Center ◽  
Over Time

This study was designed to investigate the natural history of atlantoaxial instability in individuals with Down syndrome and to determine whether significant changes in C1-C2 relationship are taking place over time. Although more than 400 patients with Down syndrome who are presently followed at the Child Development Center had cervical spine radiographic examinations in the past, only 141 patients who had serial radiological examinations and whose radiographs were available for reevaluation participated in this study. The results of our investigations revealed that there were only minor changes (1 to 1.5 mm) of atlanto-dens interval measurements over time in 130 (92%) patients with Down syndrome. Eleven patients (8%) had changes of atlanto-dens interval measurements between 2 and 4 mm over time; however, none of these patients had any clinical symptoms. The analyses of data obtained from several subgroups (males and females, various age groups, and patients with and without atlantoaxial instability) did not show any significant changes of atlanto-dens interval measurements of successively obtained radiographs. Our recommendations for and rationale of routine screening for atlantoaxial instability and follow-up examinations are discussed in detail.

scholarly journals Disseminated Histoplasmosis in an Elderly Man Presented with Fever, Weight loss, Abdominal Pain and Haemoptysis - A Case Report with Literature Review

2011 ◽  
Vol 12 (1) ◽  
pp. 81-85
Author(s):  
Mohammad Robed Amin ◽  
Farzana Shumi ◽  
Hasibuddin Khan ◽  
Syed Ahmed Abdullah ◽  
Shafiul Alam ◽  
...  
Keyword(s):  
Elderly Patient ◽  
Weight Loss ◽  
Abdominal Pain ◽  
Case Report ◽  
Literature Review ◽  
Disseminated Histoplasmosis ◽  
History Of ◽  
Background History ◽  
Recurrent Haemoptysis ◽  
High Index Of Suspicion

An elderly patient presented with prolonged fever, gross weight loss, recurrent haemoptysis and abdominal pain. He had a background history of adrenal tuberculosis with completion of treatment without any obvious improvement. Clinically he was diagnosed as a case of adrenocotical insufficiency. Evaluation including histopathology revealed the diagnosis as disseminated histoplasmosis involving adrenal gland and lungs. The disease is a rarity without any underneath immunosuppression and hence high index of suspicion with appropriate steps for investigation is the key to achieve a diagnosis of disseminated histoplasmosis in Bangladesh. Keyword: . DOI: 10.3329/jom.v12i1.6936J Medicine 2011; 12 : 81-85

Rupture of sinus of Valsalva aneurysm: case report and review of contemporary literature

Perfusion ◽  
2020 ◽  
pp. 026765912096691
Author(s):  
Jean-Luc Duval ◽  
Richard AE Ramsingh ◽  
Natasha C Rahaman ◽  
Risshi D Rampersad ◽  
Gianni D Angelini ◽  
...  
Keyword(s):  
Case Report ◽  
Cardiac Failure ◽  
Congenital Heart ◽  
Contemporary Literature ◽  
Rare Condition ◽  
Aneurysm Rupture ◽  
Sinus Of Valsalva ◽  
Sinus Of Valsalva Aneurysm ◽  
History Of ◽  
High Index Of Suspicion

Sinus of Valsalva aneurysm rupture is a rare condition with a great potential for morbidity and mortality if not promptly diagnosed and managed. We present an unusual non-infected sinus of Valsalva aneurysm rupture in a 47-year-old female. This case report, a likely presentation of a late congenital heart defect, highlights the need for a high index of suspicion in a patient with atypical history of congestive cardiac failure.

Cycloid Psychosis: A Case Report

2016 ◽  
Vol 33 (S1) ◽  
pp. S532-S532
Author(s):  
G. Martinez-Ales ◽  
I. Louzao ◽  
A. Irimia ◽  
M.F. Bravo ◽  
J. Marin
Keyword(s):  
Case Report ◽  
Psychotic Disorders ◽  
Clinical History ◽  
Diagnostic Systems ◽  
Cycloid Psychosis ◽  
History Of ◽  
Competing Interest ◽  
High Index Of Suspicion ◽  
Clinical Pictures ◽  
Restitutio Ad Integrum

IntroductionEpisodes of time-limited acute psychosis, with full recovery in between, are categorized as acute polymorphic psychotic or brief psychotic disorders. Leonhard described the three forms of cycloid psychosis (CP). Perry considers it a separate entity.Case reportWe report the case of a 54-year-old male, with a 9-year history of brief psychotic disorders. He was admitted to an inpatient unit after a 4-day episode of persecutory delusion, leading to high emotional repercussions and isolation at home. Euthymia was present. Previous admissions, 9 and 5 years before, presented similar clinical pictures. Treatment with low dose paliperidone during 6-month periods had led to the complete resolution of the episodes (restitutio ad integrum: no psychotic manifestations and the ability to run his business). In this episode, 8 days after the reintroduction of 12 mg of paliperidone per day, cessation of the symptoms took place. Careful reconstruction of the clinical history showed no stressors or drug consumption. And immediately previous 5-day phase of insomnia, hyperactivity and expenditure was described by the patient's wife.DiscussionThree inpatient admissions, a careful clinical history and a thorough review of the evidence regarding Perris criteria led to a diagnosis of CP.ConclusionCP, a classical nosological approach, is helpful in a clinical setting, as it might imply different prognosis and treatment. Recognition of CP, not included as an entity by the major diagnostic systems, requires a high index of suspicion.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Scrotal Ulcer is a Rare Presentationof TB Epididymis in Young Male

2021 ◽  
pp. 146-149
Author(s):  
Rekadi Srinivasa Rao ◽  
Senthil Kumar ◽  
R. Anantharamakrishnan ◽  
P. Varadaraju
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Clinical Presentation ◽  
Young Male ◽  
High Index ◽  
History Of ◽  
Scrotal Swelling ◽  
High Index Of Suspicion

Introduction: Scrotal tuberculosis (TB) is rare and may present as painful scrotal swelling with ulceration and discharging sinus. Case Report: A 28 years male with 2 months history of swelling and pain over left scrotum. Developed ulcer over the scrotal region with multiple sinus associated with pus discharge. Conclusion: The clinical presentation of TB scrotal ulcer can be atypical and a high index of suspicion is required for early diagnosis. Diagnosis is by using ultrasonography, microbiology, and biopsy. Treatment requires prolonged ATT for 6 months.

scholarly journals Seeking spark- ocular myasthenia gravis in a juvenile – an Indian case report

2020 ◽  
Vol 5 (7) ◽  
pp. 190-193
Author(s):  
Dr. Usha BR. ◽  
◽  
Dr. Nandhini K ◽  
Dr. Chaitra MC ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Neuromuscular Junction ◽  
Myasthenia Gravis ◽  
Autoimmune Disorder ◽  
Bilateral Ptosis ◽  
Ocular Myasthenia ◽  
Ocular Myasthenia Gravis ◽  
History Of ◽  
High Index Of Suspicion

Myasthenia gravis (MG) is a rare autoimmune disorder affecting neuromuscular junction by muscleweakness. Myasthenia gravis can be generalized or localized as ocular myasthenia gravis. Casepresentation: We report an 8-year-old boy who presented with 10 days history of drooping of botheyelids and 8 days history of diplopia. Examination revealed bilateral ptosis. A diagnosis of JuvenileOcular Myasthenia gravis was made when symptoms improved with intramuscular Edrophoniumadministration. He was commenced on oral Neostigmine at a dose of 2mg/Kg/ day,4 hourly individed doses and is on regular follow up and had a good response. Conclusion: Ocular Myastheniagravis (OMG) is a rare disease in itself. A high index of suspicion is required in a juvenile as it iseven rarer.

scholarly journals Retained Surgical Items in Inguinal Canal: A Case Report and Literature Review

2018 ◽  
Vol 6 (11) ◽  
pp. 2165-2167
Author(s):  
Amer Hashim Al Ani ◽  
Mohammad Bakri Hammami ◽  
Obaidah M. Mukhles Adi
Keyword(s):  
Case Report ◽  
Inguinal Hernia ◽  
Literature Review ◽  
Hernia Repair ◽  
Preventive Measures ◽  
Inguinal Canal ◽  
Elective Surgery ◽  
Clinical Findings ◽  
History Of ◽  
High Index Of Suspicion

BACKGROUND: Retained surgical items (RSI) are rare medical challenges with serious complications and medicolegal implications. Knowledge and preventive measures for these rare events are currently not sufficient to limit their increasing incidence. Gauzes and sponges constitute most of RSI. Forceps, needles and pins may be found too. Diagnosis of these events is challenging and often missed due to nonspecific clinical findings. PRESENTATION OF CASE: We present here a 49-year-old patient who presented to the clinic with a history of chronic scrotal sinus on the same side of a repeatedly repaired inguinal hernia 4 months before admission. He underwent exploration of the inguinal canal as elective surgery. Exploration of the inguinal canal revealed missed surgical gauze left during the previous hernia repair. The gauze was removed, and the inguinal canal was repaired. The postoperative period was uncomplicated. CONCLUSION: Retained surgical items are completely preventable near-events. Although they are rare entities, clinicians must have a high index of suspicion for any postoperative, in patients presenting with pain, sinus or palpable masses.

scholarly journals Case Report: Pediatric pharmacobezoar with subacute intestinal obstruction

F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 1037
Author(s):  
Mahnaz Hakeem ◽  
Heeramani Lohana ◽  
Sarwat Urooj ◽  
Sheraz Ahmed
Keyword(s):  
Case Report ◽  
Intestinal Obstruction ◽  
Abdominal Distension ◽  
Acute Intestinal Obstruction ◽  
Rare Entity ◽  
Persistent Vomiting ◽  
Delay In Diagnosis ◽  
History Of ◽  
Subacute Intestinal Obstruction ◽  
High Index Of Suspicion

Bezoars are an undigested mass causing an intraluminal obstruction in children.  Pharmacobezoars are formed from medicines or their vehicle, considered as a less frequent type observed in children. Our objective is to report a relatively rare entity as a potential cause of intestinal obstruction in children.  Here we report a case of 13-year-old girl with a history of herbal medicine intake who presented with persistent vomiting and abdominal distension. She was diagnosed with acute intestinal obstruction and managed conservatively without any complications. The patient became stable within two days so was discharged home. We found that ineffective history could lead to a delay in diagnosis and management. Clinicians should have a high index of suspicion for pica and psychiatric disorders, especially in adolescent children.

scholarly journals Lithobezoar: a case report

2019 ◽  
Vol 7 (1) ◽  
pp. 284
Author(s):  
Sanjeev Chowksey ◽  
Satish Deshmukh ◽  
Samrudhi Kalbande
Keyword(s):  
Case Report ◽  
Psychiatric Disorders ◽  
Standard Treatment ◽  
Young Male ◽  
Gastric Surgery ◽  
Healthy Patient ◽  
Unique Case ◽  
History Of ◽  
Special Mention ◽  
High Index Of Suspicion

We present a unique case of a colonic lithobezoar in a relatively healthy, young male with no history of psychological or psychiatric disorders. Furthermore, unlike previously reported cases, this patient had no history of gastric surgery. The mode of presentation and the rariety of disease pose difficulties in diagnosis of lithobezoar. The different modalities of treatment, both surgical and nonsurgical, were thought of and discussed. The diagnosis of a lithobezoar in a healthy patient requires a high index of suspicion, as it presents with nonspecific symptoms. The standard treatment for bezoars is discussed but lithobezoar needs special mention due to its rariety and no specific surgery guidelines.

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