scholarly journals Gall-Bladder Agenesis and Associated Anomalies

HPB Surgery ◽  
1995 ◽  
Vol 8 (4) ◽  
pp. 253-255
Author(s):  
Constantinos Yiangou ◽  
Brian Shorey ◽  
Allan D. Spigelman
Keyword(s):  
Gall Bladder ◽  
Rare Condition ◽  
Congenital Absence ◽  
Congenital Defects ◽  
Ultrasound Scanning ◽  
Associated Anomalies ◽  
Bladder Agenesis ◽  
History Of ◽  
Cardiovascular Anomalies ◽  
Noninvasive Tests

Congenital absence of the gall-bladder is a rare condition. It is sometimes associated with other congenital defects. We report here two cases of gall-bladder agenesis discovered at laparoscopy. Both had a history of skeletal and cardiovascular anomalies. The investigation of patients with absent gall-bladder can be very difficult. Ultrasound scanning is usually inconclusive and further noninvasive tests should be performed to establish the diagnosis and prevent an unnecessary operation. The presence of other congenital defects should alert the clinician to the possibility of gall-bladder agenesis.

scholarly journals Bilateral Congenital Absence of the Stapes Superstructure in Two Siblings

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Jose Ignacio Undabeitia ◽  
José Undabeitia ◽  
Laura Cianci ◽  
Luis Padilla ◽  
Eduardo Petreñas ◽  
...  
Keyword(s):  
Facial Nerve ◽  
Hearing Aid ◽  
Treatment Options ◽  
Rare Condition ◽  
Functional Results ◽  
Congenital Absence ◽  
Abnormal Development ◽  
Nerve Lesion ◽  
History Of ◽  
Facial Nerve Lesion

Middle ear ossicle malformations are an uncommon event. Among them, the congenital absence of the stapes is a very rare condition that is seldom described in the literature. We report the cases of two women, aged 19 and 22 , who presented with a long history of conductive deafness. An exploratory tympanotomy was performed and the absence of the stapes superstructure and an abnormal position of the facial nerve could be observed. A bone anchored hearing aid (BAHA) was implanted in both patients with good results. It is believed that stapes agenesis is related to an abnormal development of the facial nerve, which by the 5th to 6th week of gestation would interpose between the otic capsule and the stapes blastema, preventing these structures from contacting. A long history of nonprogressive hearing loss from birth or early childhood is the key to reach a diagnosis. Several treatment options have been described. The authors opted for a hearing aid due to the high risk of facial nerve lesion, with good functional results.

scholarly journals Rare Etiology of Odynophagia in a Female Adolescent

2021 ◽  
pp. 352-358
Author(s):  
Anastasios Koutsoumourakis ◽  
Asterios Gagalis ◽  
Maria Fotoulaki ◽  
Maria Stafylidou
Keyword(s):  
Antiviral Treatment ◽  
Healing Process ◽  
Rare Condition ◽  
Female Adolescent ◽  
Mucosal Barrier ◽  
Esophageal Mucosa ◽  
Intact Immune System ◽  
History Of ◽  
Orolabial Herpes

Herpes esophagitis (HE) is a rare condition in immunocompetent adolescents. However, it commonly occurs as a primary infection in younger individuals. Herein, we report a 16-year-old female patient who had a history of fever for 5 days, odynophagia, and orolabial herpes infection for 7 days. Clusters of painful vesicles on an erythematous base on the lips, gingiva, and palate were observed on physical examination. Further, esophagogastroduodenoscopy revealed diffuse linear ulcerations in the distal esophagus. The patient then received the following treatment: intravenous (I.V.) acyclovir 5 mg/kg three times a day, I.V. omeprazole 40 mg two times a day, and acyclovir 5% cream four times a day. After 8 days of admission, the patient was discharged. A follow-up esophagogastroduodenoscopy was performed 7 weeks after discharge, and the results revealed that the esophageal mucosa had a normal appearance. The effect of antiviral treatment against HE remains unknown in these patients. Nevertheless, it is believed to accelerate the healing process in individuals with esophageal mucosal barrier damage. To the best of our knowledge, this case of a female adolescent with an intact immune system is the sixth case of herpes simplex esophagitis to be reported in the literature.

Intraorbital Abscess: A Rare Cause of Orbit Compression

FACE ◽  
2021 ◽  
pp. 273250162110050
Author(s):  
Samuel Ruiz ◽  
Rizal Lim
Keyword(s):  
Pediatric Population ◽  
Rare Complication ◽  
Disease Process ◽  
Rare Condition ◽  
External Drainage ◽  
Direct Extension ◽  
Life Threatening ◽  
History Of ◽  
High Index Of Suspicion ◽  
Prompt Diagnosis

Introduction: Intraorbital abscess is a rare complication of rhinosinusitis that affects most commonly the pediatric population. It is thought to be caused by direct extension or venous spread of infections from contiguous sites and can lead to life-threatening complications, like permanent visual loss and cerebral abscesses. Objectives: Intraorbital abscess is a rare condition that requires prompt diagnosis and treatment to avoid serious complications. Our objectives are to provide an overview of this rare disease process and its management including our successful treatment experience. Case Description: We present a 2 case report of a 13-year-old pediatric male and a 66-year-old male with history of chronic sinusitis who presented with a right intraorbital abscess successfully treated with external drainage with decompression of the orbit. Conclusion: When intraorbital abscess is encountered, a high index of suspicion is needed to allow prompt and accurate diagnosis for this infrequent condition. Timely surgical drainage of the abscess is needed to prevent the development of fatal complications.

scholarly journals Bilateral Congenital Humeroradial Synostostis Presenting with Bilateral Proximal Radius Fractures: A Case Report

2021 ◽  
pp. 29-32
Author(s):  
Elsiddig E. Mahmoud
Keyword(s):  
Case Report ◽  
Elbow Joint ◽  
Parental Education ◽  
Functional Disability ◽  
Congenital Abnormalities ◽  
Rare Condition ◽  
Radius Fractures ◽  
Proximal Radius ◽  
History Of ◽  
Uncommon Condition

Congenital bilateral humeroradial synostosis (HRS) is a rare condition. It is generally divided into 2 categories. In the first group, which is mainly sporadic, additional upper limb hypoplasia typically coexists. In the second group, which is classically familial, HRS is commonly an isolated upper extremity anomaly. HRS can lead to variable degrees of functional disability. The clinical case reported here illustrates a possibly avoidable presentation of this uncommon condition. In this case report, we present a 6-week-old male who presented with bilateral radius fractures. Radiography revealed congenital HRS at both elbows. No other associated congenital abnormalities were detected, and there was no family history of similar conditions in any first-degree relatives. In cases of congenital HRS, movement at the elbow joint is not possible. Parents who are unaware of this information might try to straighten their infant’s elbows, which in turn may result in fractures of the proximal radius. Hence, early diagnosis and proper parental education could prevent fractures as a sequela of HRS.

scholarly journals Genetic Background of Congenital Erythrocytosis

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1151
Author(s):  
Mary Frances McMullin
Keyword(s):  
Receptor Gene ◽  
Cell Mass ◽  
Oxygen Affinity ◽  
Young Age ◽  
Erythropoietin Receptor ◽  
Congenital Defects ◽  
History Of ◽  
Genetic Mechanisms ◽  
High Oxygen Affinity ◽  
Hemoglobin Variants

True erythrocytosis is present when the red cell mass is greater than 125% of predicted sex and body mass, which is reflected by elevated hemoglobin and hematocrit. Erythrocytosis can be primary or secondary and congenital or acquired. Congenital defects are often found in those diagnosed at a young age and with a family history of erythrocytosis. Primary congenital defects mainly include mutations in the Erythropoietin receptor gene but SH2B3 has also been implicated. Secondary congenital erythrocytosis can arise through a variety of genetic mechanisms, including mutations in the genes in the oxygen sensing pathway, with high oxygen affinity hemoglobin variants and mutations in other genes such as BPMG, where ultimately the production of erythropoietin is increased, resulting in erythrocytosis. Recently, mutations in PIEZ01 have been associated with erythrocytosis. In many cases, a genetic variant cannot be identified, leaving a group of patients with the label idiopathic erythrocytosis who should be the subject of future investigations. The clinical course in congenital erythrocytosis is hard to evaluate as these are rare cases. However, some of these patients may well present at a young age and with sometimes catastrophic thromboembolic events. There is little evidence to guide the management of congenital erythrocytosis but the use of venesection and low dose aspirin should be considered.

scholarly journals P043 Fascinating phosphate: seek and you will find

Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_1) ◽  
Author(s):  
Jyoti Bakshi ◽  
Clare Batten
Keyword(s):  
Back Pain ◽  
Degenerative Change ◽  
Nasal Bone ◽  
Rare Condition ◽  
Whole Body ◽  
Excision Biopsy ◽  
Small Lesion ◽  
History Of ◽  
The Right ◽  
Fgf 23

Abstract Background/Aims  A 62-year-old accountant was referred to the metabolic bone clinic with a 2 year history of thoracic back pain and a persistently raised ALP. There were no associated red flags for her back pain. She had a history of a gluteal lump, thought to be benign, for which she had declined excision. She has hypertension and had a previous navicular fracture. Medications included bendroflumethiazide and Adcal D3. She had restriction in neck movements and was tender to percussion in the thoracic spine. There was no proximal weakness or focal neurology. Systems and joint exam were unremarkable. Methods  The case is discussed below. Results  Salient abnormal results on presentation were a raised ALP of 207 and corrected calcium of 2.34. PTH was elevated at 8.2 (NR:1.6-6.9), Vitamin D 79 and a low phosphate of 0.34 (NR:0.8-1.50). Alkaline phosphatase isoenzymes showed the raised level came from bone. Protein and urine electrophoresis were normal. A bone density scan was normal, and a recent thoracic MRI showed only degenerative change. An isotope bone scan was requested and was reported to show increased activity in the nasal bone, maxilla and both orbits, raising the possibility of Paget’s disease. However, when reviewed in the Radiology meeting with a skull x-ray, the appearances were not felt to be in keeping with Paget’s. Despite physiotherapy, hydrotherapy, acupuncture and neuropathic medication the patient’s back pain continued. Her phosphate remained low and her calculated tubular reabsorption of phosphate from a 24h urine collection (TmP/GFR) was low at 0.42mmol/l (NR 0.80-1.35). She was started on phosphate replacement and calcitriol, and Adcal D3 was continued. The Fibroblast Growth Factor (FGF) 23 levels were sent and came back significantly elevated at 1380 (NR < 100). A 68Ga DOTA-TATE scan (whole body PET/CT scan), confirmed the right gluteal lump as the source of the FGF 23. The patient went on to have an excision biopsy and histology confirmed a mesenchymal tumour of the right buttock. Her phosphate replacement was gradually weaned, but on reducing the dose phosphate levels dropped and her symptoms returned. The repeat TmP/GFR was again low at 0.61, and FGF 23 levels were still raised at 204. A repeat 68Ga DOTA-TATE scan, 4 years after the first one, showed recurrence of the right gluteal lesion and a possible small lesion in the left gluteal muscle. She has been sent for further excision. Conclusion  Tumour induced osteomalacia (TIO) is a rare condition and should be considered in cases of hypophosphataemia. Classical symptoms are proximal weakness and muscle and bone pain. They are typically associated with small benign tumours (most commonly mesenchymal tumours) which may be difficult to find. Excision is curative but if small amounts of tumour remain, relapses may occur. Disclosure  J. Bakshi: None. C. Batten: None.

scholarly journals Familial Chylomicronemia Syndrome-Induced Acute Necrotizing Pancreatitis during Pregnancy

2021 ◽  
Vol 43 (03) ◽  
pp. 220-224
Author(s):  
Julia Cristina Coronado Arroyo ◽  
Marcio José Concepción Zavaleta ◽  
Eilhart Jorge García Villasante ◽  
Mikaela Kcomt Lam ◽  
Luis Alberto Concepción Urteaga ◽  
...  
Keyword(s):  
Acute Pancreatitis ◽  
Pancreatic Necrosis ◽  
Clinical Course ◽  
Necrotizing Pancreatitis ◽  
Rare Condition ◽  
Severe Hypertriglyceridemia ◽  
Fetal Complications ◽  
Acute Necrotizing ◽  
History Of ◽  
Important Objective

AbstractAcute pancreatitis is a rare condition in pregnancy, associated with a high mortality rate. Hypertriglyceridemia represents its second most common cause. We present the case of a 38-year-old woman in the 24th week of gestation with a history of hypertriglyceridemia and recurrent episodes of pancreatitis. She was admitted to our hospital with acute pancreatitis due to severe hypertriglyceridemia. She was stabilized and treated with fibrates. Despite her favorable clinical course, she developed a second episode of acute pancreatitis complicated by multi-organ dysfunction and pancreatic necrosis, requiring a necrosectomy. The pregnancy was ended by cesarean section, after which three plasmapheresis sessions were performed. She is currently asymptomatic with stable triglyceride levels. Acute pancreatitis due to hypertriglyceridemia represents a diagnostic and therapeutic challenge in pregnant women, associated with serious maternal and fetal complications. When primary hypertriglyceridemia is suspected, such as familial chylomicronemia syndrome, the most important objective is preventing the onset of pancreatitis.

scholarly journals Double Pylorus in Upper Gastrointestinal Bleeding

2021 ◽  
pp. 332-337
Author(s):  
Heasty Oktaricha ◽  
Muhammad Miftahussurur
Keyword(s):  
Duodenal Bulb ◽  
Rare Condition ◽  
High Dose ◽  
Protective Agent ◽  
Gastrointestinal Fistula ◽  
Double Pylorus ◽  
History Of ◽  
Inflammatory Drugs ◽  
H Pylori ◽  
Upper Gastrointestinal

Double pylorus, also known as acquired double pylorus, is a rare condition defined as a gastrointestinal fistula connecting stomach antrum and duodenal bulb. The prevalence of double pylorus ranges from 0.001 to 0.4% by esophagogastroduodenoscopy (EGD). Although the etiology is unknown, the formation of double pylorus is related to Helicobacter pylori infection and the use of non-steroidal anti-inflammatory drugs (NSAID). The development of the occurrence of double pylorus is still unknown, but many systemic diseases play a role. We present the case of a 59-year-old man who was admitted to Dr. Soetomo General Hospital with hematemesis and melena. The patient had a history of diabetes mellitus since 3 years and consumption of medicinal herbs for myalgia, which was suspected of NSAIDs for the past 5 months. The patient had anemia with hemoglobin at 8.3 g/dL, enterogenous azotemia with blood urea nitrogen 28 mg/dL and serum creatinine 1.14 mg/dL. At EGD, double pylorus was found and accompanied by gastric ulcer, a giant white base ulcer, part of it covered by clotting without any sign of active bleeding. Biopsy revealed chronic inactive gastritis, and no H. pylori was found. Treatment mainly depends on gastrointestinal acid suppression through a proton pump inhibitor (PPI). The patient was given a high-dose PPI and a mucosal protective agent. He was treated for 1 week and had improved complaints.

On Crepidostomum farionis O. F. Müll. (= Stephanophiala laureata Zeder), a Distome Parasite of the Trout and Grayling. I. The Life History

Parasitology ◽  
1927 ◽  
Vol 19 (1) ◽  
pp. 86-99 ◽  
Author(s):  
F. J. Brown
Keyword(s):  
Life History ◽  
Gall Bladder ◽  
Excretory Vesicle ◽  
Intermediate Hosts ◽  
Larval Trematode ◽  
Sphaerium Corneum ◽  
Two Generations ◽  
History Of ◽  
Second Intermediate Host ◽  
Ephemera Danica

1. Crepidostomum farionis inhabits the gall bladder, as well as the intestine and pyloric caeca, of the trout and grayling.2. The life history of Crepidostomum farionis has been worked out and is based on the similarity of organisation of the cercaria, encysted larval trematode and the adult.3. The first intermediate hosts in the life history of this trematode are Pisidium amnicum (Müll.) and Sphaerium corneum (L.) though the latter is unusual.4. The second intermediate host is the larva of the mayfly, Ephemera danica (Müll.).5. There are two generations of rediae, the first gives rise to daughter rediae, which in turn produce cercariae.6. The rediae are characterised by the absence of ambulatory processes and a functional intestine.7. The cercaria (n.sp.) possesses “eye spots,” stylet and gland cells (salivary?), and the excretory vesicle is tube-shaped.8. The excretory system of the redia and the cercaria has been worked out in detail.9. The relation of the parasites to their respective hosts is discussed. On account of the need for further observations definite conclusions are held over for a later paper.

scholarly journals Intravascular Glomus Tumor of the Forearm Causing Chronic Pain and Focal Tenderness

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Sang Ki Lee ◽  
Dae Geon Song ◽  
Won Sik Choy
Keyword(s):  
Chronic Pain ◽  
Glomus Tumor ◽  
Rare Condition ◽  
Surgical Excision ◽  
Vascular Tumor ◽  
Glomus Tumors ◽  
Contrast Magnetic Resonance ◽  
History Of ◽  
Subcutaneous Layer ◽  
Magnetic Resonance Imaging Mri

Introduction. A glomus tumor is a benign vascular tumor derived from glomus cells and occurs mainly in the subcutaneous layer of the subungual or digital pulp. Extradigital glomus tumors have been reported within the palm, wrist, forearm, foot, bone, stomach, colon, cervix, and mesentery. Glomus tumors can originate from the intraosseous, intramuscular, periosteal, intravascular, and intraneural layers. However, a glomus tumor originating from the intravascular layer of the forearm is a rare condition.Case Report. A 44-year-old woman had a 7-year history of chronic pain and focal tenderness of the forearm. No hypersensitivity or sensory alterations were observed. Contrast magnetic resonance imaging (MRI) showed a mass measuring 5 × 3 × 2 mm leading to a vein. Surgical excision was performed, and the tumor was completely resected. Finding of gross examination revealed a dark-red, well-defined soft tissue tumor, and histologic examination confirmed that the mass was a glomus tumor. The patient’s symptoms were completely resolved postoperatively.Conclusion. Intravascular glomus tumors rarely occur in the forearm; therefore, a thorough physical exam, comprehensive medical history, in-depth imaging, and early surgical excision upon clinical suspicion may be helpful to prevent a delayed or incorrect diagnosis.

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