Splenic hamartomas in children

Splenic hamartomas(SHs)are uncommon,benign vascular lesions of unclear etiology and are mostly found incidentally on abdominal images,at surgery,or at autopsy.Since the first case description,in 1861,less than 50 pediatric SH cases have been reported in the literature.In this article,we have performed an analysis of all SH cases in children published in the literature to date and presented our case of an 8-year-old male with SH.These lesions in children were shown to cause symptoms more often than in the adult population.The observed SH sizes in children ranged from a few millimeters to 18 cm,and the symptomatic lesions were mostly larger or multiple.The most common clinical finding was splenomegaly.Signs of hypersplenism were present in children with a single SH larger than 4.5 cm(diameter range:4.5-18.0 cm)and in those with multiple hamartomas,ranging from a few millimeters to 5 cm.Eighty percent of patients with available laboratory findings had hematological abnormalities such as anemia,thrombocytopenia,or pancytopenia.Other symptoms and signs included abdominal pain,recurrent infections,fever,night sweats,lethargy,growth retardation,and weight loss.The use of multiple imaging modalities may suggest the preoperative diagnosis of a splenic mass in children and determine the therapeutic approach.However,the final diagnosis of SH relies on histopathological evaluation.Surgery,including total or partial splenectomy(PS),is the mainstay of SH management.Milickovic M et al.Splenomas in children WJCC https://www.wjgnet.com 1910 April 16,2024 Volume 12 Issue 11 Although total splenectomy carries a greater risk of overwhelming post-splenectomy infection than PS it has remained the most performed surgical procedure in children with SH.In the majority of pediatric patients with symptomatic SH,resolution of symptoms and resolution or improvement of cytopenias occurred after surgical treatment.

Imaging findings of biliary hamartomas

AIM： To evaluate the imaging findings of biliary hamartomas （yon Meyenburg complexes, VMCs） and discuss the differential diagnosis with other related diseases. METHODS： Imaging findings of biliary hamartomas on ultrasonography （US）, computed tomography （C-T）, magnetic resonance imaging （MRI）, MR cholangiopancreatography （MRCP）and hepatobiliary scintigraphy were retrospectively analyzed in six patients. RESULTS： On ultrasound images, five of the six cases showed multiple small hyper- and hypo-echoic lesions with comet-tail echoes, especially when magnified by US with the usage of zoom function. In all the six cases, multiple tiny hypodense lesions less than 10 mm in diameter were revealed as scattered throughout the liver with no enhancement on CT. These tiny lesions were demonstrated to be hyper- and hypo-intensity on T2- and TI-weighed images, respectively, in three patients who underwent MRI examinations. MRCP was performed in two patients, and clearly showed multiple tiny irregular- and round-shaped hyper-intensity lesions. MRCP and hepatobiliary scintigraphy showed normal appearances of intra- and extra-hepatic bile ducts in two and one patients, respectively. CONCLUSION： Imaging modalities are useful in the diagnosis and differential diagnosis of VMCs. A correct diagnosis might be obtained when typical imaging findings are present even without a histological confirmation.

Portal hypertension in a patient with biliary hamartomas: A case report

BACKGROUND Biliary hamartomas(BH)are a rare benign disease caused by malformation of the intrahepatic bile ducts.BH are occasionally diagnosed,but often lack obvious clinical symptoms.They are usually diagnosed by biopsy and imaging tests in clinical practice.Few studies have reported the association of BH with portal hypertension.CASE SUMMARY A 40-year-old man was repeatedly admitted to our hospital due to hematochezia.The source of bleeding was considered to be gastroesophageal varices and portal hypertensive gastropathy by endoscopy.He had no history of hepatitis virus infection,alcohol abuse,drug-induced liver injury,or autoimmune liver disease.He underwent magnetic resonance imaging,which showed rounded,irregular,low-signal-T1 and high-signal-T2 lesions diffusely distributed on the liver,that were not communicated with the biliary system on magnetic resonance cholangiopancreatography.According to the imaging examination,the patient was considered to have a diagnosis of BH with portal hypertension.CONCLUSION Based on the present case report,BH may be a potential etiology of portal hypertension.

Multiple solid pancreatic hamartomas:A case report and review of the literature

Non-neoplastic tumor-like lesions in the pancreas are uncommon.Here,we present a case of multiple solid pancreatic hamartomas in a 78-year-old Japanese woman.Her computed tomography revealed a pancreatic mass,measuring 1.8 cm in maximum diameter.However,no symptoms were found.She was not an alcoholic and had no history of pancreatitis.The patient underwent a pancreatoduodenectomy,and three well-demarcated solid nodules measuring 1.7 cm,0.4 cm,and 0.3 cm in diameter were found in the pancreatic head.Microscopically,the lesions were composed of non-neoplastic,disarranged acinar cells and ducts embedded in a sclerotic stroma with elongated spindle cells that lacked discrete islets.The stromal spindle cells were immunoreactive for CD34 and CD117.The histological diagnosis was multiple solid hamartomas of the pancreas.There has been no recurrence 30 mo after surgery.So far,18 cases of pancreatic hamartoma have been reported in the English literature,including our case.Six out of these 18 cases seemed to fit the criteria of solid pancreatic hamartoma.Although the number of cases was limited,solid pancreatic hamartomas seem to be benign tumor-like lesions,which are found incidentally in healthy middle-aged adults,but occasionally involve the whole pancreas,resulting in a poor prognosis.Solid pancreatic hamartoma was sometimes associated with minor pancreatic abnormality,and multiple small lesions other than the main tumors were detected in a small number of cases.From these findings,one may speculate that solid pancreatic hamartoma could be the result of a malformation during the development of the pancreas.

Bile duct hamartomas(von Mayenburg complexes) mimicking liver metastases from bile duct cancer:MRC findings

We present a case of a 72-year-old man with a common bile duct cancer, who was initially believed to have multiple liver metastases based on computed tomography findings, and in whom magnetic resonance cholangiography （MRC） revealed a diagnosis of bile duct hamartomas. At exploration for pancreaticoduodenectomy, liver palpation revealed disseminated nodules at the surface of the liver. These nodules showed gray-white nodular lesions of about 0.5 cm in diameter scattered on the surface of both liver lobes, which were looked like multiple liver metastases from bile duct cancer. Frozen section of the liver biopsy disclosed multiple bile ducts with slightly dilated lumens embedded in the collagenous stroma characteristics of multiple bile duct hamartomas （BDHs）. Only two reports have described the MRC features of bile duct hamartomas. Of all imaging procedures, MRC provides the most relevant features for the imaging diagnosis of bile duct hamartomas.

Bile duct hamartomas-the von Meyenburg complex

: Hamartomas of the bile duct (von Meyenburg complex) are benign neoplasms of the liver, constituted histologically cystic dilatations of the bile duct, encompassed by fibrous stroma. We report a 42-year-old female patient with symptomatic cholecystitis, whose gross and ultrasonic appearance suggestive of multiple liver metastases. Magnetic resonance imaging and liver biopsy are the gold standards for diagnosis of this rare hepatobiliary condition.

Midline Spinal Cord Hamartomas—A Report of Six Cases

Midline Spinal Cord Hamartomas are relatively rare and asymptomatic. These lesions may present with a tethered cord and a normal overlying skin, a skin dimple, a dermal sinus tract or dense collagen. Most patients have few or no neurological symptoms related to them. Microscopically they are composed of mature and well-differentiated ectodermal and mesodermal elements, meningothelial cells, calcification, and even urothelium. We report MRI and histologic features of midline spinal cord hamartomas in six cases.

How would we deal with hypothalamic hamartomas?

Hypothalamic hamartoma(HH) is usually associated with refractory epilepsy, cognitive impairment, and behavioral disturbance. There is now increasing evidence that HH can be treated effectively with a variety of neurosurgical approaches. Treatment options for intractable gelastic seizure in HH patients include direct open surgery with craniotomy, endoscopic surgery, radiosurgery with gamma knife and stereotactic radiofrequency thermocoagulation. Selection of treatment modalities depends on type and size of the HH and the surgeon's preference. Two surgical techniques, resection and disconnection, had been described with favorable outcomes. Pretreatmentevaluation, patient selection, surgical techniques, complications, and possible selection of treatment are discussed.

Hypothalamic Hamartomas: Two Cases

This is a MRI study of two patients presented with history of gelastic seizures since many years ago. Plain and post intravenous gadolinium multiplanar MRI imaging of the brain is performed. It showed well-defined non-enhancing mass lesions in the region of hypothalamus and tuber cinereum. It showed signal intensity similar to the gray matter and imaging diagnosis of hypothalamic hamartoma is made.

Double tailgut cysts (presacral and precoccygeal hamartomas) with CA 19-9 elevation

Tailgut cyst, also called retrorectal hamartoma, is a rare congenital lesion and is usually located anterior to the sacrum and posterior to the rectum. We report a case of double tailgut cyst (presacral and precoccygeal hamartoma). A 62-year- old female visited the hospital complaining of anal pain and pressure in the perianal area for one month. Digital rectal examination revealed a round mass with hard consistency in the lateral and posterior part of rectum 5 cm from the anal verge. Pelvic magnetic resonance imaging showed two cystic and solid presacral masses (lateral and posterior part of rectum) compressing the rectum. The patient underwent surgical resection for pathologic diagnosis. At operation, two masses were located in the left presacral space without invasion to adjacent organs and soft tissue. Pathologic examination revealed double tailgut cysts without malignant transformation. A differential diagnosis of perirectal cystic hamartoma includes epidermal cysts, cystic teratomas, dermoid cysts, anal gland cysts, sarcoma and rectal duplications. Regional inflammatory process frequently complicates this lesion and perirectal fistula can develop. Tailgut cyst also has a malignancy potential, with development of adenocarcinomas. To establish a definite diagnosis and prevent complication, complete surgical resection is recommended.

Giant Brunner's gland hyperplasia of the duodenum successfully resected en bloc by endoscopic mucosal resection: A case report

BACKGROUND Duodenal Brunner's gland hyperplasia(BGH)is a therapeutic target when complications such as bleeding or gastrointestinal obstruction occur or when malignancy cannot be ruled out.Herein,we present a case of large BGH treated with endoscopic mucosal resection(EMR).CASE SUMMARY An 83-year-old woman presented at our hospital with dizziness.Blood tests revealed severe anemia,esophagogastroduodenoscopy showed a 6.5 cm lesion protruding from the anterior wall of the duodenal bulb,and biopsy revealed the presence of glandular epithelium.Endoscopic ultrasonography(EUS)demonstr-ated relatively high echogenicity with a cystic component.The muscularis propria was slightly elevated at the base of the lesion.EMR was performed without complications.The formalin-fixed lesion size was 6 cm×3.5 cm×3 cm,showing nodular proliferation of non-dysplastic Brunner's glands compartmentalized by fibrous septa,confirming the diagnosis of BGH.Reports of EMR or hot snare polypectomy are rare for duodenal BGH>6 cm.In this case,the choice of EMR was made by obtaining information on the base of the lesion as well as on the internal characteristics through EUS.CONCLUSION Large duodenal lesions with good endoscopic maneuverability and no evident muscular layer involvement on EUS may be resectable via EMR.

The diagnosis and management of hypothalamic hamartomas in children

Hypothalamic hamartoma (HH) is a rare developmental malformation often characterized by gelastic seizures.Recent advances in treating HH have led to dramatic improvements.However,clinical protocol of HH is poorly understood.Since 2002,department Pediatric Neurosurgery of Xinhua Hospital has maintained a multidisciplinary clinical program to evaluate and treat children with HH.This program has provided the opportunity to investigate the management of HH.In this review,we summarize the clinical progress and propose a clear management principle for different HH patients.

Combined hamartoma of the retina and retinal pigment epithelium:A case report

BACKGROUND Combined hamartoma of the retina and retinal pigment epithelium(CHRRPE)is a rare congenital benign tumor which is commonly monocular.Typical CHRRPE comprises slightly raised lesions at the posterior pole,with proliferation membrane often leading to vascular distortion.In severe cases,macular edema,macular hole,retinal detachment or vitreous hemorrhage may occur.Patients with atypical clinical manifestations are prone to misdiagnosis by inexperienced ophthalmologists.CASE SUMMARY A 33-year-old man reported onset of right eye blurred vision for one week prior.Anterior segment and intraocular pressure were normal in both eyes.Left eye fundus photography was normal.Right eye ophthalmoscopy showed vitreous hemorrhage and off-white raised retinal lesions below the optic disc.Proliferative membranes on the lesion surfaces resulted in superficial retinal detachment and tortuosity and occlusion of peripheral blood vessels.A horseshoe-like tear in the temporal periphery was surrounded by retinal detachment.Optical coherence tomography revealed retinal thickening at the focal site with structural disturbance indicated by high reflectance.Right eye ultrasound showed retinal thickening at the lesion,stretching and uplifting of the proliferative membrane,with moderately patchy echo at the optic disc edge.Cytokines and antibodies were detected in vitreous fluids during the operation to rule out other diseases.Fundus fluorescein angiography(FFA)at postoperative follow-up led to final diagnosis of CHRRPE.CONCLUSION FFA is helpful in diagnosing retinal and retinal pigment epithelial combined hamartoma.In addition,other cytokine and etiological tests facilitate further differential diagnosis to rule out other suspected diseases.

Multiple von Meyenburg complexes mimicking diffuse liver metastases from esophageal squamous cell carcinoma

Von Meyenburg complexes are benign liver lesions consisting of adenomatous bile duct proliferates. We present two patients suffering from esophageal cancer accompanied by the occurrence of yon Meyenburg complexes. Preoperative computerized tomography （CT） of the liver had not shown these lesions. In one of the patients, diffuse nodular manifestation was found in both liver lobes, mimicking diffuse hepatic metastases. Intraoperative frozen section revealed the benign nature of the lesions in both cases. The patients underwent esophageal resection without complications. To the best of our knowledge, the coincidence of von Meyenburg complexes and esophageal cancer has never been reported before. This uncommon entity should be taken into consideration as a differential diagnosis of liver lesions in malignancies. It underlines the importance of intraoperative frozen section for liver lesions of unknown origin.

Intra Oral Approach for Complex &Compound Odontomas (Large or Small)

Odontoma by definition alone refers to any tumour of odontogenic origion. These are considered to be hamartomatous malformation rather than true neoplasm and are generally asymptomatic. World Health Organization defines a lesion as the complex odontoma: when the calcified dental tissues are simply arranged in an irregular mass bearing no morphologic similarity to rudimentary teeth. Compound odontomas: composed of all odontogenic tissues in an orderly pattern, which result in many teeth-like structures, but without morphologic resemblance to normal teeth. The goal of this article is to report two cases of the complex odontomas erupted in oral cavity and compound odotome with impacted teeth. The article also aims to report that intra oral approach for removal of odontomas complex or compound small or large is better than extra oral approach.

Peutz-Jeghers syndrome:Diagnostic and therapeutic approach

Peutz-Jeghers syndrome （P3S） is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions. Prevalence of PJS is estimated from 1 in 8300 to 1 in 280000 individuals. PJS predisposes sufferers to various malignancies （gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular tumors）. Bleeding, obstruction and intussusception are common complications in patients with P3S. Double balloon enteroscopy （DBE） allows examination and treatment of the small bowel. Polypectomy using DBE may obviate the need for repeated urgent operations and small bowel resection that leads to short bowel syndrome. Prophylaxis and polypectomy of the entire small bowel is the gold standard in PJS patients. Intraoperative enteroscopy （IOE） was the only possibility for endoscopic treatment of patients with PJS before the DBE era. Both DBE and IOE facilitate exploration and treatment of the small intestine. DBE is less invasive and more convenient for the patient. Both procedures are generally safe and useful. An overall recommendation for PJS patients includes not only gastrointestinal multiple polyp resolution, but also regular lifelong cancer screening （colonoscopy, upper endoscopy, computed tomography, magnetic resonance imaging or ultrasound of the pancreas, chest X-ray, mammography and pelvic examination with ultrasound in women, and testicular examination in men）. Although the incidence of PJS is low, it is important for clinicians to recognize these disorders to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in the first-degree relatives of PJS patients.

Differential diagnosis and management of liver tumors in infants

During the first year of life, most of the liver neoplasms are benign in origin, but some of these histologically benign lesions may be challenging in their management. Although most hepatic hemangiomas can be safely observed until involution is documented, some patients will need treatment due to progressive hepatomegaly, hypothyroidism and/or cardiac failure. Large mesenchymal hamartomas may require extensive hepatic resection and an appropriate surgical plan is critical to obtain good results. For malignant neoplasms such as hepatoblastoma, complete surgical resection is the mainstay of curative therapy. The decision about whether to perform an upfront or delayed resection of a primary liver malignant tumor is based on many considerations, including the ease of resection, surgical expertise, tumor histology and stage, and the likely chemosensitivity of the tumor. This article reviews the initial management of the more common hepatic tumors of infancy, focusing on the differential diagnosis and treatment options.

Symptomatic multinodular splenic hamartoma preoperatively suspected as metastatic tumor:A case report

Splenic hamartoma(SH)is a rare benign tumor usually detected accidentally,which is composed of an aberrant mixture of normal splenic elements.Here,we report a case of 54-year-old man who presented with symptomatic multinodular SH and was admitted initially for thrombocytopenia and anemia.Physical examination revealed that the patients had an anemic appearance and palpable spleen,extending 10 cm below the costal margin.Preoperative ultrasound and computed tomography(CT)indicated splenomegaly with multinodular lesions.On enhanced CT scanning,during the arterial phase,the lesions demonstrated inhomogeneous enhancement,and in the portal phase the lesions were more hyperdense than the splenic parenchyma.The images were highly suggestive of a metastatic tumor.Splenectomy was performed 1 wk later.The tumor was eventually diagnosed as SH according to the morphological features and immunohistochemical detection,by which CD34 was positive in lining cells and some spindle cells,vimentin was positive in the tumor,factor-Ⅷ-related antigen was positive multifocally in lining cells,and smooth muscle actin was positive in some spindle cells.Thrombocytopenia and anemia were cured after splenectomy.

Gastrointestinal polyposis with esophageal polyposis is useful for early diagnosis of Cowden's disease

Cowden's disease, one of the several hamartoma syndromes, is characterized by hyperplastic lesions and hamartomas distributed in the whole body. About thirty percent of patients with Cowden's disease have been reported to be complicated by malignant tumors. Based on the criteria of the International Cowden Consortium, this disease is mainly diagnosed as trichilemmoma of the face and oral mucosal papillomatosis. However, Cowden's disease patients themselves often do not recognize trichilemmoma of the face and oral mucosal papillomatosis. We report a case of Cowden's disease in a 33-year-old female patient who was diagnosed based on the characteristic findings at gastrointestinal endoscopy. Clinically, the patient was aware of having bloody stools. Multiple polyps found endoscopically in the esophagus, stomach, ileum, colon and rectum showed histopathologically hamartomatous changes and epithelial hyperplasia. Physical examination revealed oral papillomatosis and facial trichilemmomas. A germline mutation in exon 8 of the phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene was found in this case. It was a point mutation of C to T at codon 1003 (CGA→TGA, arginine→stop codon). The characteristic findings on gastrointestinal endoscopy led us to a diagnosis of Cowden's disease. It has been reported that gastrointestinal polyposis with esophageal polyposis is found in about 85.7% of Japanese patients with Cowden's disease. The characteristic findings on gastrointestinal endoscopy can be a useful diagnostic clue to Cowden's disease.

Diffuse intestinal ganglioneuromatosis an uncommon manifestation of Cowden syndrome

Diffuse intestinal ganglioneuromatosis is a hamartomatous polyposis characterized by a disseminated, intramural or transmural proliferation of neural elements involving the enteric plexuses. It has been associated with MEN Ⅱ, neurofibromatosis type 1 and hamartomatous polyposis associated with phosphatase and tensin homolog mutation. We report the case of a female patient with a history of a breast and endometrial tumor who presented in a colonoscopy performed for rectal bleeding diffuse ganglioneuromatosis, which oriented the search for other characteristic findings of Cowden syndrome given the personal history of the patient. The presence of an esophagogastric polyposis was also noted. Cowden syndrome is characterized by skin lesions, but it is rarely diagnosed by these lesions, because they are usually overlooked. Intestinal polyposis is not a major diagnostic criterion but it is very useful for early diagnosis. The combination of colonic polyposis and glucogenic acanthosis should orient the diagnosis to Cowden syndrome.