scholarly journals An interesting case of Phocomelia

2020 ◽  
Vol 9 (2) ◽  
pp. 866
Author(s):  
C. Lavanya ◽  
T. Ramani Devi ◽  
D. Gayathri
Keyword(s):  
Rare Case ◽  
Interesting Case ◽  
Tar Syndrome ◽  
Specific Syndrome ◽  
Antenatal Ultrasonography ◽  
Associated Symptoms ◽  
History Of ◽  
Absent Radius ◽  
Hands And Feet ◽  
Limb Deficiency

Authors present a very rare case of tetra-phocomelia evaluated by antenatal ultrasonography. It is a condition seen in 0.62 per 100,000 live births. This is a congenital chromosomal abnormality involving the musculoskeletal system. Primi gravida with spontaneous conception after a long period of infertility underwent early anomaly scan. Patient was not aware of the last menstrual period hence; NT scan was missed. Routine early anomaly scan done between 16-18 weeks of pregnancy diagnosed a fetus with Tetra-Phocomelia. Due to the lack of associated symptoms or significant history, our case did not fit into any specific syndrome and appears to be the result of a sporadic, non-hereditary limb deficiency involving all four limb buds.  Second opinion obtained from a fetal medicine consultant who confirmed the diagnosis. Hence, decided for mid trimester termination and fetus was expelled after 8 hours. Fetus was not sent for pathological analysis. Tetra-phocomelia is a rare congenital anomaly and it may be associated with other deformity also. 1st case of phocomelia was described after the intake of thalidomide. In this condition hands and feet are seen as small flippers of a seal. The differential diagnosis includes sporadic phocomelia, Holt-Oram syndrome, thrombocytopenia-absent radius syndrome (TAR syndrome), Robert’s syndrome, and thalidomide-induced phocomelia. Here authors are presenting a rare case of Phocomelia where there is no history of drug intake or family history. This has to differentiate from thrombocytopenia-absent radius syndrome (TAR syndrome), sporadic phocomelia, Holt-Oram syndrome, Robert’s syndrome, and thalidomide-induced phocomelia.

scholarly journals Frontonasal dysplasia- a rare case report

2017 ◽  
Vol 5 (10) ◽  
pp. 4640
Author(s):  
Reena Sharma ◽  
Poojan Dogra ◽  
Kapil Malhotra ◽  
Vivek Kaushal
Keyword(s):  
Rare Case ◽  
Positive Family History ◽  
Clinical Signs ◽  
Developing Nations ◽  
Frontonasal Dysplasia ◽  
Male Baby ◽  
Antenatal Ultrasonography ◽  
Rare Case Report ◽  
The Face ◽  
History Of

Frontonasal dysplasia (FND) is a rare malformative complex affecting the frontal portion of the face, the eyes and the nose; it may occur singly or associated with other clinical signs. We report here a rare case of a full-term male baby who presented with features of FND. There was no history of consanguinity, no positive family history. Antenatal ultrasonography was normal. Though this baby did not survive because the defects were not compatible for the survival. But the developing nations still have handicap in the management of such cases in term of fiancés, surgical correction of such major defects, education and social support in these patients. 

A rare case of duodenal cancer with achalasia cardia

2019 ◽  
Vol 22 (2) ◽  
pp. 32-34
Author(s):  
Kartikesh Mishra
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Similar Case ◽  
Barium Meal ◽  
Duodenal Adenocarcinoma ◽  
Gastrointestinal Malignancies ◽  
Achalasia Cardia ◽  
Proliferative Growth ◽  
History Of ◽  
Duodenal Carcinoma

Duodenal adenocarcinoma constitutes 0.4% of gastrointestinal malignancies. Achalasia incidence rate is 0.5-1.2 per 100000. The combination is rare. This is a report of a 68-year-old male from Nepal with history of five years abdominal pain, dysphasia and weight loss. Duodenoscopy could confirm ulcero-proliferative growth at D1-D2. Barium meal depicted features of achalasia cardia. No similar case report suggests that occurrence of duodenal carcinoma and achalasia cardia is merely co- incidental. Discussion: No similar case report suggests that occurrence of duodenal carcinoma and achalasia cardia is merely co- incidental. Consent: Informed consent was obtained from the patient for publication of this case report .

A Rare Case of Bilateral Incarcerated Obturator Hernias and a Right-Side Femoral Hernia

2020 ◽  
pp. 1-3
Author(s):  
Jinping Xu ◽  
Jinping Xu ◽  
Ruth Wei ◽  
Salieha Zaheer
Keyword(s):  
Emergency Department ◽  
Abdominal Pain ◽  
Femoral Hernia ◽  
Rare Case ◽  
Hernia Recurrence ◽  
High Morbidity ◽  
Diagnostic Challenge ◽  
Abdominal Ct ◽  
Abdominal Ct Scan ◽  
History Of

Obturator hernias are rare but pose a diagnostic challenge with relatively high morbidity and mortality. Our patient is an elderly, thin female with an initial evaluation concerning for gastroenteritis, and further evaluation revealed bilateral incarcerated obturator hernias, which confirmed postoperatively as well as a right femoral hernia. An 83-year-old female presented to the outpatient office initially with one-day history of diarrhea and one-week history of episodic colicky abdominal pain. She returned 4 weeks later with diarrhea resolved but worsening abdominal pain and left inner thigh pain while ambulating, without changes in appetite or nausea and vomiting. Abdominal CT scan then revealed bilateral obturator hernias. Patient then presented to the emergency department (ED) due to worsening pain, and subsequently underwent hernia repair. Intraoperatively, it was revealed that the patient had bilateral incarcerated obturator hernias and a right femoral hernia. All three hernias were repaired, and patient was discharged two days later. Patient remained well postoperatively, and 15-month CT of abdomen showed no hernia recurrence.

scholarly journals A case of sigmoid volvulus in an unexpected demographic

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Mohammad Saba ◽  
Joshua Rosenberg ◽  
Gregory Wu ◽  
Gudata Hinika
Keyword(s):  
Abdominal Pain ◽  
Severe Pain ◽  
Rare Case ◽  
Young Female ◽  
Sigmoid Volvulus ◽  
Case Presentation ◽  
Operative Complications ◽  
History Of ◽  
Male Sex ◽  
Emergent Laparotomy

Abstract Background A sigmoid volvulus occurs when a segment of the colon twists upon its mesentery. This infliction is associated with old age, multiple co-morbidities, and the male sex. We present a rare case of sigmoid volvulus that occurred in a healthy young female. Case presentation A 28-year-old female presented with a one week history of constipation and abdominal pain. Her symptoms suddenly worsened and became associated with vomiting and severe pain. A focused history taking and physical examination showed peritoneal signs that led to timely diagnostic imaging to be implemented. Computed tomography (CT) of the abdomen was consistent with sigmoid volvulus. Our patient underwent emergent laparotomy with a sigmoidectomy and recovered with no post-operative complications. Conclusion This case report emphasizes the importance of clinicians maintaining a sigmoid volvulus as a rare, yet important differential when approaching abdominal pain in young healthy patients.

scholarly journals Left-Sided Bochdalek's Hernia in a Young Adult: A Case Report and Literature Review

2021 ◽  
Vol 07 (03) ◽  
pp. e124-e126
Author(s):  
Mark Portelli ◽  
Mark Bugeja ◽  
Charles Cini
Keyword(s):  
Computed Tomography ◽  
Young Adult ◽  
Rare Case ◽  
Surgical Repair ◽  
Bochdalek Hernia ◽  
Case Presentation ◽  
Atypical Case ◽  
Accident And Emergency ◽  
History Of ◽  
Accident And Emergency Department

Abstract Purpose Bochdalek's hernia is a type of congenital diaphragmatic hernia occurring secondary to a defect in the posterior attachment of diaphragm. This condition commonly presents with respiratory insufficiency in infants. To date, there are less than 100 cases of Bochdalek's hernia presenting in adults published in the literature. The mainstay treatment of Bochdalek's hernia involves reduction of hernial contents back into the peritoneal cavity with a tensionless graft repair closing the diaphragmatic defect. Case Presentation We present an atypical case of the Bochdalek hernia presenting in a previously healthy 16-year-old male who presented to the Accident and Emergency department with a 2-day history of dysphagia and loss of breath. The Bochdalek hernia was confirmed on computed tomography (CT) imaging and the patient underwent surgical repair with Gore-Tex mesh. Conclusion The report shows a rare case of the Bochdalek hernia in a young adult, successfully managed with a laparotomy.

scholarly journals Recurrent noncirrhotic hyperammonemia causing acute metabolic encephalopathy in a patient with a continent ileocecal pouch: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
T. M. Skipina ◽  
S. Macbeth ◽  
E. L. Cummer ◽  
O. L. Wells ◽  
S. Kalathoor
Keyword(s):  
Emergency Department ◽  
Metabolic Acidosis ◽  
Mental Status ◽  
Rare Case ◽  
Liver Function Tests ◽  
Altered Mental Status ◽  
Potassium Citrate ◽  
Metabolic Encephalopathy ◽  
History Of ◽  
Normal Urine

Abstract Introduction Acute encephalopathy, while a common presentation in the emergency department, is typically caused by a variety of metabolic, vascular, infectious, structural, or psychiatric etiologies. Among metabolic causes, hyperammonemia is relatively common and typically occurs in the setting of cirrhosis or liver dysfunction. However, noncirrhotic hyperammonemia is a rare occurrence and poses unique challenges for clinicians. Case presentation Here we report a rare case of a 50-year-old Caucasian female with history of bladder cancer status post chemotherapy, radical cystectomy, and ileocecal diversion who presented to the emergency department with severe altered mental status, combativeness, and a 3-day history of decreased urine output. Her laboratory tests were notable for hyperammonemia up to 289 μmol/L, hypokalemia, and hyperchloremic nonanion gap metabolic acidosis; her liver function tests were normal. Urine cultures were positive for Enterococcus faecium. Computed tomography imaging showed an intact ileoceal urinary diversion with chronic ileolithiasis. Upon administration of appropriate antibiotics, lactulose, and potassium citrate, she experienced rapid resolution of her encephalopathy and a significant reduction in hyperammonemia. Her hyperchloremic metabolic acidosis persisted, but her hypokalemia had resolved. Conclusion This case is an example of one of the unique consequences of urinary diversions. Urothelial tissue is typically impermeable to urinary solutes. However, when bowel segments are used, abnormal absorption of solutes occurs, including exchange of urinary chloride for serum bicarbonate, leading to a persistent hyperchloremic nonanion gap metabolic acidosis. In addition, overproduction of ammonia from urea-producing organisms can lead to abnormal absorption into the blood and subsequent oversaturation of hepatic metabolic capacity with consequent hyperammonemic encephalopathy. Although this is a rare case, prompt identification and treatment of these metabolic abnormalities is critical to prevent severe central nervous system complications such as altered mental status, coma, and even death in patients with urinary diversions.

Episodic versus Chronic Dizziness: An Analysis of Predictive Factors

2021 ◽  
pp. 000348942110254
Author(s):  
Eric J. Formeister ◽  
Ricky Chae ◽  
Emily Wong ◽  
Whitney Chiao ◽  
Lauren Pasquesi ◽  
...  
Keyword(s):  
Multivariate Regression ◽  
Treatment Options ◽  
Depression And Anxiety ◽  
Imaging Studies ◽  
Comorbid Depression ◽  
Cross Sectional ◽  
Tertiary Center ◽  
Chronic Dizziness ◽  
Associated Symptoms ◽  
History Of

Objectives: To elucidate differences in demographic and clinical characteristics between patients with episodic and chronic dizziness. Methods: A cross-sectional, observational study of 217 adults referred for dizziness at 1 tertiary center was undertaken. Subjects were split into a chronic dizziness group (>15 dizzy days per month) and an episodic dizziness group (<15 dizzy days per month). Results: 217 adults (average age, 53.7 years; 56.7% female) participated. One-third (n = 74) met criteria for chronic dizziness. Dizziness handicap inventory (DHI) scores were significantly higher in those with chronic dizziness compared to those with episodic dizziness (53.9 vs 40.7; P < .001). Comorbid depression and anxiety were more prevalent in those with chronic dizziness (44.6% and 47.3% vs 37.8% and 35.7%, respectively; P > .05). Abnormal vestibular testing and abnormal imaging studies did not differ significantly between the 2 groups. Ménière’s disease and BPPV were significantly more common among those with episodic dizziness, while the prevalence of vestibular migraine did not differ according to chronicity of symptoms. A multivariate regression that included age, sex, DHI, history of anxiety and/or depression, associated symptoms, and dizziness triggers was able to account for 15% of the variance in the chronicity of dizziness (pseudo- R2 = 0.15; P < .001). Conclusions: Those who suffer from chronic dizziness have significantly higher DHI and high comorbid rates of depression and anxiety than those with episodic dizziness. Our findings show that factors other than diagnosis alone are important in the chronification of dizziness, an observation that could help improve on multimodal treatment options for this group of patients.

scholarly journals P046 Pointing the finger: an unusual presentation of dactylitis

Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_1) ◽  
Author(s):  
Natalia Cernovschi - Feasey ◽  
Julekha Wajed
Keyword(s):  
Pleural Effusion ◽  
Soft Tissue ◽  
Middle Finger ◽  
Joint Involvement ◽  
Long Bones ◽  
History Of ◽  
Systemic Symptoms ◽  
The Right ◽  
Hands And Feet ◽  
Radiographic Changes

Abstract Background/Aims  Dactylitis is commonly associated with psoriatic arthritis, and regularly presents at Rheumatology clinics. We discuss a case where progressive systemic symptoms lead to the consideration of alternate diagnoses. Methods  A 46-year-old Nepalese woman presented to the Rheumatology department with a 3 month history of diffuse swelling of the right middle finger proximal interphalangeal joint, with the appearance of dactylitis. There was pain on movement, but no other joint involvement. Simultaneously she noticed blurred and decreased vision, which on review by the ophthalmologists, was diagnosed with bilateral uveitis. There was no history of psoriasis, inflammatory bowel disease, or other past medical history of note. There was no travel history in the past 12 months. A diagnosis of a presumed inflammatory arthritis was made. Results  Blood tests showed elevated c-reactive protein 55 (normal &lt;4 mg/l), erythrocyte sedimentation rate 138 (normal 0-22 mm/hr) and an iron deficiency anaemia. Rheumatoid factor and Anti-CCP antibody were negative. Hand radiographs were reported as normal. MRI of the third digit confirmed an enhancing soft tissue collection at the proximal phalanx of the right middle finger. She was referred for a biopsy of this lesion. Interestingly over the subsequent few months, she developed progressive breathlessness. Chest radiograph showed a left pleural effusion. Further tests showed negative serum ACE, Lyme and Toxoplasma screen. Quantiferon test was negative. Pleural aspirate showed a transudate with negative Acid-fast bacillus (AFB) test and culture. CT chest and abdomen showed a persistent pleural effusion, inflammatory changes in the small bowel and thickening of the peritoneum and omentum. In view of the systemic involvement, a peritoneal tissue biopsy was performed. This confirmed chronic granulomatous inflammation with positive AFB stain for mycobacterium tuberculosis. Our patient was started on quadruple anti- TB antibiotics for 6 months. Her systemic symptoms and dactylitis have improved, although there is on-going treatment for her ocular involvement. Conclusion  Approximately 10% of all cases of extrapulmonary TB have osteoarticular involvement. Dactylitis is a variant of tuberculous osteomyelitis affecting the long bones of the hands and feet. It occurs mainly in young children; however adults may be affected also. The first manifestation is usually painless swelling of the diaphysis of the affected bone followed by trophic changes in the skin. The radiographic changes are known as spina ventosa, because of the ballooned out appearance of the bone, although this was not seen in our case. Fibrous dysplasia, congenital syphilis, sarcoidosis and sickle cell anaemia may induce similar radiographic changes in the metaphysis of long bones of hands and feet, but do not cause soft tissue swelling or periosteal reaction. This case highlights the importance of testing for TB, especially in atypical cases of dactylitis, with other systemic features. Disclosure  N. Cernovschi - Feasey: None. J. Wajed: None.

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