A case of tuberous sclerosis complex revealed by epilepsy.

Tuberous sclerosis complex is a multisystem genetic disease with autosomal dominant inheritance, characterized by the development of benign tumors known as hamartomas that affect multiple organs. It is a condition with a wide phenotypic spectrum, and its clinical presentation varies over time within the same individual. Hence, the importance of early screening and rigorous monitoring of evolving clinical manifestations. Diagnosis can occur at any age. These tumors are generally benign, but their size and location can have a significant impact on the prognosis and, in some cases, even on life expectancy. Cardiac, neurological, and cutaneous manifestations are most common in childhood. The onset of early and severe epilepsy within the first year of life is associated with neurodevelopmental disorders that impact the quality of life for affected individuals and their families. We present a case of a 22-year-old female patient experiencing inaugural epileptic seizures in adulthood, with magnetic resonance imaging revealing subependymal hamartomas, cortical tubers and radial migration bands accompanied by polycystic kidney disease; the diagnosis of tuberous sclerosis complex was established based on the association of these lesions, which constitute major and minor criteria.

Gyratory Seizures in Hypothalamic Hamartoma.

Gyratory seizures (GS) are a rare seizure type characterized by body rotation of ≥180° around its vertical axis. While GS have been documented in various epileptic syndromes, their occurrence in association with hypothalamic hamartomas (HH) has not been reported previously. This case report introduces the first documented instance of GS in a patient with a HH, a non-neoplastic tumor originating from the tuber cinereum. The patient, a 25-year-old female, with a history of recurrent seizures since childhood, initially presented with gelastic seizures, marked by inappropriate laughter, and subsequent evolution of symptoms including right oculocephalic version and gyratory seizures to the right side. Despite multiple antiepileptic medications, seizures persisted. Neuroimaging revealed a HH in the right hypothalamic region. The presence of polydactyly prompted consideration of Pallister Hall syndrome (PHS). PHS is an autosomal dominant condition linked to GLI3 gene mutations. While some features of PHS were absent in this case, the presence of both gelastic and gyratory seizures indicated the hypothalamus as the lesion site, despite inconclusive electroencephalogram findings. This report underscores the novel association of GS with HH and highlights the importance of considering PHS in patients with HH and polydactyly presenting with gelastic and gyratory seizures. Understanding GS in HH may offer insights into broader hypothalamic lesion-related epileptic phenomena.

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) demonstrated 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.

Asymptomatic CD34+ plaque on the scalp of a child.

Fibroblastic connective tissue nevus (FCTN) is a rare, benign dermal mesenchymal lesion of fibroblastic and myofibroblastic lineage. We report a case of a 2-year-old male who presented with an 18-month history of an erythematous, asymptomatic, unchanging dermal plaque on the right medial frontal scalp. A punch biopsy showed a disorderly, bland, dermal fibroblastic spindle cell proliferation extending to the superficial subcutis. It stained positive for CD34, and concern for dermatofibrosarcoma protuberans was raised. However, FISH was negative for PDGFB rearrangement, and the constellation of findings was most consistent with FCTN. This case underscores the importance of distinguishing CD34+ mesenchymal tumors for both dermatologists and dermatopathologists. As these represent a rather diverse group of lesions with different biological behaviors, a knowledge of the differential diagnosis of these entities is critical for proper patient management.

Autopsy case of linear nevus sebaceous syndrome with KRAS (G12D) mutation.

Linear nevus sebaceous syndrome (LNSS) is a neurocutaneous syndrome associated with systemic complications that involve multiple organs, including the skin, central nervous system, eyes, and skeleton. LNSS is considered to be caused by mosaic RAS gene mutation. In this report, we present an autopsy case of LNSS in a Japanese boy. The affected neonate had hydrops fetalis and was born at 28 weeks and 4 days of gestation, weighing 2104 g. He had bilateral inverted eyelids, verrucous linear nevus separated along Blaschko's line, myocardial hypertrophy, and pharyngeal constriction, and underwent intensive treatment in NICU for arrhythmia, hydrocephalus, and respiratory distress. The hydrocephalus progressed gradually and he died at the age of 181 days, 12 days after a sudden cardiac arrest and recovery. KRAS G12D mutation was found in a skin biopsy specimen but not in blood cells, suggesting a postzygotic mosaicism. Autopsy revealed novel pathological findings related to LNSS, including intracranial lipomatous hamartoma and mesenteric lymphangioma, in addition to previously reported findings such as multicystic dysplastic kidney. There was the limited expression of mutated KRAS protein in kidneys.

Pulmonary Calcifying Fibrous Tumor in a Pediatric Patient: A Case Report.

A calcifying fibrous tumor (CFT), also known as calcifying fibrous pseudotumor, is an uncommon non-cancerous neoplasm usually located in the gastrointestinal tract. Its location in the lung is extremely rare, and only a few case reports have been published. This case report describes our diagnostic approach in a 9-year-old male patient with an incidental pulmonary mass. The mass was initially misdiagnosed, requiring multiple imaging tests and interventions to obtain the definitive diagnosis of pulmonary CFT. This paper aims to contribute to the limited information available on pulmonary CFT by presenting detailed findings from computed tomography and magnetic resonance imaging.

Giant Genital Mass: Unveiling a Unique Case of Folliculocystic and Collagen Hamartoma.

Folliculocystic and collagen hamartoma (FCCH) is a rare entity, typically documented in males with tuberous sclerosis complex. Here, we report a unique case of FCCH in a 19-year-old female with an unusual presentation in the external genitalia. The patient presented with a progressively enlarging mass over three years, causing difficulties in walking and sitting. Examination revealed a 10 x 15 cm tender, lobulated, skin-colored tumor with comedo-like openings originating from the right labium majus, with satellite lesions on both labia majora. She had no other symptoms or history suggestive of tuberous sclerosis. Histopathological examination showed dilated hair follicles with keratin, perifollicular fibrosis, and thick dermal collagen bands extending into subcutaneous tissue, confirming FCCH. This case underscores the importance of considering FCCH in the differential diagnosis of genital masses, even without classical clinical associations. Our findings contribute to the limited literature on FCCH and highlight the need for further exploration and awareness within the medical community.

Robot-assisted laser interstitial thermal therapy for drug-resistant epilepsy in hypothalamic hamartoma.

Hypothalamic hamartomas are congenital lesions of the hypothalamus, with a range of symptoms defined by lesion location. Common presenting symptoms include gelastic seizures and precocious puberty. When hamartoma-related seizures become resistant to medications, laser interstitial thermal therapy (LITT) has been shown to be an effective treatment. The authors present a case of robot-assisted LITT for a patient with an 11-year history of epilepsy due to hypothalamic hamartoma. In addition, they demonstrate the use of a stereotactic biopsy needle implemented during the procedure for possible biopsy of deep cranial lesions. The video can be found here: https://stream.cadmore.media/r10.3171/2024.4.FOCVID2415.

Giant parathyroid lipoadenoma case report: A parathyroid phenomenon.

INTRODUCTION: Parathyroid lipoadenomas are a rare parathyroid phenomenon and an unusual cause of primary hyperparathyroidism. A difficult diagnosis to make, there are less than 100 cases in the literature since they were first described in 1958, and to our knowledge this is the largest parathyroid lipoadenoma to be reported. PRESENTATION OF CASE: A minimally-invasive parathyroidectomy with intraoperative parathyroid hormone monitoring was performed in the case of a male with a large neck mass and symptomatic primary hyperparathyroidism. A giant parathyroid lipoadenoma was excised, with an appropriate decrease in intraoperative parathyroid hormone level observed. DISCUSSION: This lesion poses a challenge to the surgeon, radiologist and pathologist alike and is an important addition to the scant literature available. Clinically it presents similarly to a simple adenoma. The high adipose content of this lesion leads to difficulty localising it on imaging, and the histology study can lead pathologists astray. CONCLUSION: We highlight the importance of having the parathyroid lipoadenoma as a differential diagnosis for patients who develop primary hyperparathyroidism.

Multifocal Congenital Simple Hamartoma of the Retinal Pigment Epithelium: A Multimodal Imaging Case Study.

Congenital simple hamartoma of the retinal pigment epithelium (CSHRPE) is a rare benign tumor often detected incidentally during routine eye exams. We present a case of multifocal CSHRPE in a 32-year-old Hispanic woman, emphasizing the diagnostic challenges posed by its presentation and the pivotal role of multimodal imaging in accurate diagnosis. Despite initial difficulties due to a history of trauma and pigmented fundus, advanced imaging techniques, including optical coherence tomography (OCT), OCT angiography (OCTA), fluorescein angiography (FA), and indocyanine green angiography (ICGA), facilitated a precise diagnosis. Notably, OCTA revealed high signal intensity and flow at the largest nodule site while FA and ICGA exhibited characteristic blockage patterns. Moreover, smaller nodules exhibited OCT findings supporting the theory of islands of retinal pigment epithelium (RPE) cells proliferating ectopically within the retina. Our case underscores the importance of comprehensive imaging assessment in distinguishing CSHRPE from other lesions, contributing to a deeper understanding of this rare ocular condition.

Hepatic vascular hamartoma in a cat: a case report with literature review.

Vascular hamartomas represent a focal proliferation of disorganized vascular tissue, which is usually present at birth. An 8-month-old Scottish fold female cat presented with abdominal distention, mild dyspnea, pale mucous membranes, and lethargy. Ultrasound examination revealed a hepatic mass resembling multiple cysts affecting the right medial lobe. Surgical excision was performed, and tissue samples were sent for histopathological evaluation. The mass was composed of multiple, dilated, variably-sized well-differentiated arterioles and venules, consistent with vascular hamartoma. Immunohistochemical investigation of the cells lining the cystic structures showed positive immunolabeling for vimentin and negative immunolabeling for PanCK, supporting the histological diagnosis. Based on existing literature, this represents the first case of hepatic localization of vascular hamartoma in a cat. In addition, a comparative histological study between vascular hamartoma and biliary duct hamartoma and a review on hepatic vascular hamartomas in animals and hepatic cystic masses in cats was made.

A rare cause of bronchial obstruction: Endobronchial hamartoma case report.

Most of the pulmonary endobronchial lesions are malignant in origin. In rare instances, benign lesions such as endobronchial hamartoma may be the cause of the endobronchial tree obstruction. We present the case of a 57-year-old male patient from North Africa who presents with a history of a 5-month cough. Imaging, particulary CT scan, showed a mass on the right intermediate bronchus whose radiological characteristics are consistent with hamartoma. A biopsy of the mass obtained via bronchoscopy revealed chronic inflammation with no evidence for malignancy. The patient was treated surgically, and anatomopathology confirmed the diagnosis of hamartoma.

A rare case of asymptomatic giant pulmonary hamartoma.

BACKGROUND: Pulmonary hamartomas are benign lung lesions. Histopathologically, pulmonary hamartoma is composed of varying amounts of mesenchymal elements, including chondroid tissue, mature adipose tissue, fibrous stroma, smooth muscle, and entrapped respiratory epithelium. Most pulmonary hamartoma cases are asymptomatic and found incidentally during imaging. They usually appear as well-circumscribed lesions with the largest dimension of less than 4 cm. Asymptomatic giant pulmonary hamartomas that more than 8 cm are rare. CASE PRESENTATION: In the current case report, a 12.0 × 9.5 × 7.5 cm lung mass was incidentally noticed in a 59-year-old female during a heart disease workup. Grossly, the lesion was lobulated with pearly white to tan-white solid cut surface and small cystic areas. Microscopically, representative tumor sections demonstrate a chondromyxoid appearance with relatively hypocellular stroma and entrapped respiratory epithelium at the periphery. No significant atypia is noted. No mitosis is noted, and the proliferative index is very low (< 1%) per Ki-67 immunohistochemistry. Mature adipose tissue is easily identifiable in many areas. Histomorphology is consistent with pulmonary hamartoma. A sarcoma-targeted gene fusion panel was further applied to this case. Combined evaluation of microscopic examination and sarcoma-targeted gene fusion panel results excluded malignant sarcomatous transformation in this case. The mediastinal and hilar lymph nodes are histologically benign. After surgery, the patient had an uneventful postoperative period. CONCLUSIONS: Giant pulmonary hamartoma is rare; our case is an example of a huge hamartoma in an asymptomatic patient. The size of this tumor is concerning. Thus, careful and comprehensive examination of the lesion is required for the correct diagnosis and to rule out co-existent malignancy.

Pulmonary Endobronchial Hamartoma Presenting With Post-obstructive Pneumonia.

Pulmonary hamartomas (PH) are rare but are the most common benign tumors found in the lungs. They are slow-growing and are usually found incidentally on chest imaging during the sixth decade of life. Approximately 10% of pulmonary hamartomas are endobronchial. Rarely, pulmonary hamartomas can cause a spectrum of pulmonary symptoms depending on their size and location. We present a case of endobronchial hamartoma causing airway obstruction and recurrent post-obstructive pneumonia.

Unusual Presentation of Nevus Lipomatosus Cutaneous Superficialis: A Rare Location of a Rare Diagnosis.

The nose is a common site for many dermatological disorders and even skin cancers. Herein, we report a case of an elderly man who presented with papular lesions on his nose. A 64-year-old man presented with a cluster of four to five skin-colored papules on his nose for the last two years which were gradually increasing in size. He also had rhinophyma for the past 10 years. Routine investigations and histopathological examination were performed. On biopsy, it was revealed to be nevus lipomatosus cutaneous superficialis, a rare, benign hamartomatous anomaly found mostly in lower parts of the body like the buttocks and hence not usually considered a differential in such cases. It is essential to know about this rare entity as well as its atypical features to consider it as a differential diagnosis for such lesions on the nose.

An Unusual Case of Hypothalamic Hamartoma With Nongelastic Seizures and Posterior Cortex Connectivity.

BACKGROUND: To describe a rare seizure semiology originating from a hypothalamic hamartoma in a child, along with unusual ictal onset and connectivity pattern, and provide a review of the pathophysiology of epilepsy associated with hypothalamic hamartoma and management. METHODS: A detailed retrospective chart review and literature search were performed using Pubmed and Embase. RESULTS: We present a case of a three-year-old male who presented with dyscognitive seizures with onset at age 22 months. Stereoelectroencephalography exploration confirmed the onset in hypothalamic hamartoma with rapid propagation to the temporal-parietal-occipital association cortex and precuneus. The patient's epilepsy was cured with laser ablation of the hamartoma. CONCLUSION: Published literature mostly describes a more anterior frontal or temporal epileptic network with primarily gelastic seizures being the hallmark type of seizures associated with hypothalamic hamartoma. We highlight a rare posterior cortex network with an atypical presentation of focal nonmotor seizures with impaired awareness in the setting of a hypothalamic hamartoma. Stereotactic laser ablation of the hamartoma rendered seizure freedom. Early diagnosis and appropriate treatment can lead to seizure freedom.

Surgical and radiosurgical treatment of hypothalamic hamartoma: The Italian experience between 2011 and 2021.

OBJECTIVE: To investigate the Italian experience on the surgical and radiosurgical treatment of drug-resistant epilepsy due to hypothalamic hamartoma (HH) in the period 2011-2021 in six Italian epilepsy surgery centers, and to compare safety and efficacy profiles of the different techniques. METHODS: We collected pseudo-anonymized patient's data with at least 12 months of follow-up. Surgical outcome was defined according to Engel classification of seizure outcome. Univariate analysis was performed to assess the risk of post-operative seizures, categorized in dichotomous variable as favorable and unfavorable; explanatory variables were considered. Mann-Whitney or Chi-squared test were used to assess the presence of an association between variables (p < 0.05). RESULTS: Full presurgical and postoperative data about 42 patients from 6 epilepsy surgery centers were gathered. Engel class I was reached in the 65.8% and 66.6% of patients with gelastic and non-gelastic seizures, respectively. Other than daily non-gelastic seizures were associated with seizure freedom (p = 0.01), and the radiological type presented a trend toward significance (p = 0.12). SIGNIFICANCE: Endoscopic disconnection and laser interstitial thermal therapy are effective in the treatment of HH-related epilepsy, with a tolerable safety profile. Both gelastic and non-gelastic seizures can be treated, also in patients with a long history of seizures. PLAIN LANGUAGE SUMMARY: This study collected data about 42 patients with HH-related epilepsies. Endoscopic disconnection and laser therapy are both effective and safe in the treatment of hypothalamic hamartoma-related epilepsies.

Direct resection is a safe and effective strategy to control seizures in patients with hypothalamic hamartoma.

Achieving favorable seizure outcomes is challenging in patients with seizures resulting from hypothalamic hamartoma. Although minimally invasive and non-invasive surgical procedures are used to treat this population, these procedures have limitations. Therefore, we analyzed the outcomes of patients with hypothalamic hamartoma following direct resection. We included 159 patients with hypothalamic hamartoma who underwent direct resection using the transcallosal interforniceal approach between 2011 and 2018. The relationships between clinical parameters and seizure outcomes were analyzed. In total, 55.3% achieved gross total resection and 25.2% underwent near-total resection. Of all patients, 79.2% were overall seizure-free at one year, but this number dropped to 77.0% at more than five years. Moreover, 88.4% (129/146) reached gelastic seizure (GS)-free status at one year and this number increased to 89.0% (97/109) at more than five years. Seventy-one patients took antiseizure medication (ASM) long-term, 68 took it for one year, and 11 took it for one-half year. The duration of ASM consumption (p < 0.001) and extent of hypothalamic hamartoma resection (p = 0.016) were significant independent predictors of long-term overall seizure-free survival, while the duration of ASM consumption (p = 0.011) and extent of hypothalamic hamartoma resection (p = 0.026) were significant independent predictors of long-term GS-free survival. Most patients' behavior, school performance, and intelligence were not affected after surgery. Direct resection is effective and safe strategy for patients with hypothalamic hamartomas. Hypothalamic hamartomas should be removed as completely as possible, and patients should take ASM long-term following surgery to reach long-term overall seizure-free or GS-free status.

Tumor-like conditions that mimic liver tumors.

Non-neoplastic tumor-like conditions of the liver can appear similar to hepatic neoplasms. In many cases, a biopsy is required to confirm the pathology. However, several tumor-like conditions can be correctly diagnosed or suggested prospectively, thus saving patients from unnecessary anxiety and expense. In this image-focused review, we present the ultrasound, computed tomography, magnetic resonance imaging, and positron emission tomography scan features of eight such entities. Clues that indicate the correct pathology are discussed, and the usual clinical setting is described. Many of these lesions are treated differently from true neoplasms, and the current treatment plan is discussed in many of the cases presented. After reviewing this article, the reader will have a better understanding of these lesions and the situations in which they should be included in the differential diagnosis.

Unveiling the Rarity: A Fascinating Case of Chondro-Osseous Respiratory Epithelial Adenomatoid Hamartoma (COREAH) in the Sinonasal Tract.

Chondro-osseous respiratory adenomatoid hamartoma (COREAH) are extremely rare benign lesions of the sinonasal tract. It is present in 3 to 83-year-olds. It originates from various sites of the sinonasal tract; the most common site is the posterior lateral wall of the nasal cavity. Imaging calcification is an important finding in COREAH. In this case report, we present an exceptionally rare occurrence involving a 55-year-old female patient who exhibited symptoms of nasal obstruction, bleeding from the left side of the nasal cavity and loss of smell. We aim to share our experience in managing this unique condition. Diagnostic nasal endoscopic examination of the patient revealed a reddish, fleshy polypoidal mass in the left nasal cavity arising from the lateral wall of the left nasal cavity posteriorly and extending anteriorly into the left nasal cavity. The patient underwent an excisional biopsy. Upon microscopic examination, we observed a hamartomatous proliferation of respiratory-type glands exhibiting mucinous metaplasia. Additionally, numerous spicules of mature bone were present, a distinctive feature of COREAH. The patient underwent a 6-month follow-up, during which no recurrent growth was detected within the nasal cavity.