scholarly journals Rapunzel Syndrome—An Extremely Rare Cause of Digestive Symptoms in Children: A Case Report and a Review of the Literature

2021 ◽  
Vol 9 ◽  
Author(s):  
Cristina Oana Marginean ◽  
Lorena Elena Melit ◽  
Maria Oana Sasaran ◽  
Razvan Marginean ◽  
Zoltan Derzsi
Keyword(s):  
Rare Condition ◽  
Abdominal Ultrasound ◽  
Review Of The Literature ◽  
Gastric Cavity ◽  
Rapunzel Syndrome ◽  
Palpable Mass ◽  
Young Females ◽  
Gastric Trichobezoar ◽  
Intraluminal Mass ◽  
Delays In Diagnosis

Rapunzel syndrome is an extremely rare condition seen in adolescents or young females with psychiatric disorders consisting of a gastric trichobezoar with an extension within the small bowel. The delays in diagnosis are common since in its early stages, it is usually asymptomatic. We report the case of a 13-year-old girl admitted in our clinic for abdominal pain, anorexia, and weight loss. The clinical exam pointed out diffuse alopecia, a palpable mass in the epigastric area, and abdominal tenderness at palpation, the patient weighing 32 kg. The laboratory tests showed anemia. The abdominal ultrasound showed a gastric intraluminal mass with a superior hyperechoic arc. The upper digestive endoscopy revealed a mass formed by hair, mucus, and food occupying the gastric cavity with the extension into the duodenum confirming the diagnosis of Rapunzel syndrome. The giant trichobezoar of 511 g, measuring 17 × 7 × 6.5 cm with a tail of approximately 3 cm, was successfully removed through laparotomy. Although rare, Rapunzel syndrome must never be forgotten as a differential diagnosis for digestive symptoms since its early detection hinders the occurrence of further complications.

Rapunzel syndrome — a case report

Open Medicine ◽  
2010 ◽  
Vol 5 (3) ◽  
pp. 354-357
Author(s):  
Miroslava Stojanovic ◽  
Andjelka Slavkovic ◽  
Zoran Marjanovic ◽  
Miroslav Stojanovic ◽  
Dragoljub Zivanovic
Keyword(s):  
Rare Complication ◽  
Fatal Outcome ◽  
Abdominal Ultrasound ◽  
Upper Gastrointestinal Endoscopy ◽  
Rapunzel Syndrome ◽  
Palpable Mass ◽  
Synthetic Fibers ◽  
Computed Tomographic ◽  
Gastric Trichobezoar ◽  
Endoscopic Extraction

AbstractBezoars are collections of indigestible materials found in the gastrointestinal tract. Rapunzel syndrome is a rare complication of a gastric trichobezoar in which the mass of hair extends through the pylorus into the small bowel and can even reach the colon. A 12-year-old girl with severe pain and a feeling of “fullness” in the upper abdomen was admitted to Pediatric Surgery. Two days before admission, the patient presented with vague abdominal pain, vomiting with a little blood, and black stool. On physical examination she was pale and listless with patchy alopecia. Abdominal examination showed a mobile, palpable mass in the epigastrium. The initial hematocrit was 7,1%, and the erythrocyte count was 1,12×1012 cells per liter. Abdominal ultrasound and computed tomographic (CT) examinations confirmed the presence of a tumor-like formation in stomach. A giant bezoar with ulceration on the back wall of the stomach was verified by upper gastrointestinal endoscopy. Endoscopic extraction was not possible because of the size of the bezoar. Gastrotomy was performed to remove the bezoar that occupied most of the stomach, with a long tail that extended deeply into the duodenum (Rapunzel syndrome). The bezoar, 35 by 10 cm in diameter, was black and consisted of hair and synthetic fibers. Prompt diagnosis and treatment of trichobezoars are important to avoid a possible fatal outcome.

scholarly journals The Girl With Rapunzel Syndrome

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Norly S ◽  
Nor Saadah I ◽  
Ros’aini P
Keyword(s):  
Psychiatric Illness ◽  
Outlet Obstruction ◽  
Gastric Ulceration ◽  
Psychiatric Consultation ◽  
Review Of The Literature ◽  
Rapunzel Syndrome ◽  
Long Tail ◽  
Young Females ◽  
Gastric Trichobezoar ◽  
Perforated Viscus

Rapunzel syndrome is a syndrome whereby a gastric trichobezoar (hair ball) extends through the pylorus, in the form of a long tail, to cause gastric outlet obstruction. It was first described by Vaughan et al. in 1968. The syndrome is mostly seen in young females with psychiatric illness. Presentations can be non-specific especially in the early stages. If left untreated it may leads to severe complications, which may include gastric ulceration, intestinal obstruction, perforated viscus and obstructive jaundice. Treatment is essentially surgical and psychiatric consultation is necessary to prevent relapses. We present the case of a 26-year-old mentally subnormal lady with gastric trichobezoar and provide a review of the literature.

scholarly journals A Rare Adrenal Mass in a 3-Month-Old: A Case Report and Literature Review

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Author(s):  
Ashish Garg ◽  
Elza Pollak-Christian ◽  
Navneetha Unnikrishnan
Keyword(s):  
Adrenal Mass ◽  
Rare Case ◽  
Adrenal Tumor ◽  
Case Reports ◽  
English Literature ◽  
Abdominal Ultrasound ◽  
Cell Tumor ◽  
Review Of The Literature ◽  
Pediatric Case ◽  
Palpable Mass

A three-month-old female infant presented with abdominal distention for 2 months. A large palpable mass in right upper quadrant was noted on physical exam. Abdominal ultrasound revealed a large heterogeneous mass with multiple cystic components. Mass was surgically excised and pathology was consistent with mature adrenal teratoma. Teratoma is a germ cell tumor mainly found in gonadal tissues. Occurrence of adrenal gland teratoma in children is very rare with less than 10 pediatric case reports in English literature. We present a rare case of primary adrenal tumor in an infant and a review of the literature.

scholarly journals Gastric Trichobezoar: An Enduring Intrigue

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
S. Mewa Kinoo ◽  
B. Singh
Keyword(s):  
Psychiatric Illness ◽  
Rare Condition ◽  
Diagnostic Challenge ◽  
Delay In Diagnosis ◽  
Young Females ◽  
Classic Case ◽  
Patient Profile ◽  
Gastric Trichobezoar

Trichobezoar is a rare condition that may pose a diagnostic challenge. Patients with this condition often have an underlying psychiatric illness, and history may not be easily forthcoming. The condition should be entertained especially in young females. Delay in diagnosis may lead to futile complications. We report a classic case of trichobezoar in terms of patient profile, presentation, and investigative findings.

scholarly journals Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children

2020 ◽  
Vol 2020 (1) ◽  
Author(s):  
Salwa A. Musa ◽  
Areej A. Ibrahim ◽  
Samar S. Hassan ◽  
Matthew B Johnson ◽  
Asmahan T. Basheer ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Novel Mutation ◽  
Wide Spectrum ◽  
Rare Condition ◽  
Neonatal Diabetes ◽  
Abdominal Ultrasound ◽  
Sub Saharan Africa ◽  
High Rate ◽  
Genetic Characteristics ◽  
Sub Saharan

Abstract Background Fanconi-Bickel syndrome (FBS) is a rare condition of carbohydrate metabolism, caused by a recessive defect in the facilitative glucose transporter GLUT2 encoded by the SLC2A2 gene and characterized by a wide spectrum of phenotypical features. There is a paucity of reported data on FBS from Sub-Saharan Africa. Here, we describe the clinical, biochemical and genetic characteristics of our patients with FBS from Sudan, a country with a high consanguinity rate. Patients & methods Eleven patients from ten unrelated Sudanese families were included. Clinical & biochemical data were documented and imaging studies done including bone survey and abdominal ultrasound. Liver biopsy was done to confirm the pathological diagnosis in 45% of cases and molecular genetics was performed through contribution with the Exeter genomics laboratory for ten patients. Results Reported consanguinity was 70% among our patients. Growth was significantly impaired at presentation with mean weights of (-5.3 ± 1.8) SD and heights (-5.4 ± 2.5) SD. Severe chest deformity was present in (27%) and all patients showed features of rickets at presentation. Three patients had neonatal diabetes requiring insulin therapy of which one has been reported before. Six families lost undiagnosed siblings with similar clinical presentations. We identified a total of four homozygous pathogenic SLC2A2 variants in our patients, one of whom had a novel mutation. Conclusions FBS is not uncommon in Sudan where there is a high rate of consanguinity. Many cases are likely missed because of variable presentation and lack of public and professionals’ awareness. This is the first series to describe this condition from Sub-Saharan Africa.

scholarly journals Erythromelanosis Follicularis Faciei et Colli: A Case Report in a Caucasian Male and Brief Review of the Literature

2020 ◽  
Vol 12 (3) ◽  
pp. 231-235
Author(s):  
Carl Maximilian Thielmann ◽  
Wiebke Sondermann
Keyword(s):  
Case Report ◽  
Family History ◽  
Clinical Presentation ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Review Of The Literature ◽  
Caucasian Male

Erythromelanosis follicularis faciei et colli, a rare condition of unknown etiology, was first described by Kitamura et al. from Japan in 1960. It is characterized by a triad consisting of well-demarcated erythema, hyperpigmentation, and follicular papules. We report the case of a 50-year-old Caucasian male, who had asymptomatic symmetrical facial lesions since the age of 42. His family history was unremarkable. Published erythromelanosis follicularis faciei et colli cases of the last 10 years are summarized in this report to demonstrate the variability and differences in the clinical presentation of this uncommon diagnosis.

scholarly journals Composite phaeochromocytomas—a systematic review of published literature

2021 ◽  
Author(s):  
K. Dhanasekar ◽  
V. Visakan ◽  
F. Tahir ◽  
S. P. Balasubramanian
Keyword(s):  
Case Reports ◽  
Descriptive Analysis ◽  
Management Strategies ◽  
Gastrointestinal Symptoms ◽  
Rare Condition ◽  
Epidemiological Data ◽  
Human Case ◽  
Rare Tumour ◽  
Palpable Mass

Abstract Introduction Composite phaeochromocytoma is a tumour containing a separate tumour of neuronal origin in addition to a chromaffin cell tumour. This study reports on two cases from a single centre’s records and presents a systematic literature review of composite phaeochromocytomas. Methods In addition to describing 2 case reports, a systematic search of the Medline database from inception up to April 2020 was done for human case reports on composite phaeochromocytomas. Relevant titles and/or abstracts were screened, and full texts were reviewed to identify appropriate studies. Data was extracted and a descriptive analysis of presentation, clinical features, management strategies and outcomes was performed. The quality of included studies was assessed using a critical appraisal checklist. Results There were 62 studies included, with a total of 94 patients. Of 91 patients where data was available, the median (range) age of patients was 48 (4–86) years. Of 90 patients where information was provided, 57% were female. In at least 28% of patients, a genetic cause was identified. Common presenting features include abdominal pain, palpable mass, cardiovascular and gastrointestinal symptoms. The most common tumour component with phaeochromocytoma is ganglioneuroma; other components include ganglioneuroblastoma, neuroblastoma and malignant peripheral nerve sheath tumours. In patients with follow-up data (n=48), 85% of patients were alive and well at a median (range) follow-up time of 18 (0.5–168) months. Conclusion Composite phaeochromocytoma is a rare tumour, with a significant genetic predisposition. This review summarises available epidemiological data, which will be useful for clinicians managing this rare condition.

scholarly journals Choledochal Cyst Coexisting with Gallbladder Carcinoma - An Uncommon Case Report

2017 ◽  
Vol 16 (4) ◽  
pp. 602-605
Author(s):  
Jahangir Hossain Bhuiyan ◽  
Mohibul Aziz ◽  
Omar Faruk ◽  
Mahbub Hasan
Keyword(s):  
Choledochal Cyst ◽  
Gallbladder Carcinoma ◽  
Medical Science ◽  
Rare Condition ◽  
Exploratory Laparotomy ◽  
Abdominal Ultrasound ◽  
Low Grade ◽  
College Hospital ◽  
Medical College ◽  
Operative Recovery

Choledochal Cyst is a relatively rare condition. Even rarer is a choledochal cyst in association with a gallbladder carcinoma. This study reports a rare case of choledochal cyst coexisting with gallbladder carcinoma in a Bangladeshi patient. A 35 year old lady presented at IBN Sina Medical College Hospital, Kallyanpur, Dhaka with the history of recurrent right upper quadrant abdominal pain from childhood, which became severe for last 4 days before admission. The pain was colicky in nature and radiated to the back. Episodes were associated with low-grade fever, anorexia as well as vomiting. The preoperative diagnosis was made by abdominal ultrasound and MRCP. Exploratory laparotomy, enbloc cholecystectomy with excision of the choledochal cyst and roux-en-Y hepaticojejunostomy was also done. Post operative recovery was uneventful. Patient was followed up for six months and no obvious complication was noticed. Early suspicion of this rare pancreato-billiary disease is important because surgical treatment is the only way to avoid the complications of the disease.Bangladesh Journal of Medical Science Vol.16(4) 2017 p.602-605

scholarly journals Congenital unilateral facial palsy revealing a facial nerve agenesis: a case report and review of the literature

2019 ◽  
Vol 5 (1) ◽  
pp. 20180029
Author(s):  
Yaotse Elikplim Nordjoe ◽  
Ouidad Azdad ◽  
Mohamed Lahkim ◽  
Laila Jroundi ◽  
Fatima Zahrae Laamrani
Keyword(s):  
Case Report ◽  
Facial Nerve ◽  
Temporal Bone ◽  
Facial Paralysis ◽  
Facial Palsy ◽  
Rare Condition ◽  
Review Of The Literature ◽  
Moebius Syndrome ◽  
Temporal Bone Ct

Facial nerve aplasia is an extremely rare condition that is usually syndromic, namely, in Moebius syndrome. The occurrence of isolated agenesis of facial nerve is even rarer, with only few cases reported in the literature. We report a case of congenital facial paralysis due to facial nerve aplasia diagnosed on MRI, while no noticeable abnormality was detected on the temporal bone CT.

Sign in / Sign up

Export Citation Format

Share Document