Pulmonary giant chondromatous hamartoma with multifocal evolution in an infant.

Hamartoma is the most common benign pulmonary tumor in adults, but is rarely described in the pediatric population. Giant chondromatous and progressive forms are even rarer. We report the novel case of a 13-month-old infant hospitalized for giant pulmonary chondromatous hamartoma discovered during a septic episode, rapidly progressive, with severe multifocal lesions, without clear response to several cytotoxic therapies. No predisposition syndrome was identified.

Hypothalamic hamartoma with epilepsy: Review of endocrine comorbidity.

The most common, and usually the only, endocrine disturbance in patients with hypothalamic hamartoma (HH) and epilepsy is central precocious puberty (CPP). The mechanism for CPP associated with HH may relate to ectopic generation and pulsatile release of gonadotropin-releasing hormone (GnRH) from the HH, but this remains an unproven hypothesis. Possible regulators of GnRH release that are intrinsic to HH tissue include the following: (1) glial factors (such as transforming growth factor α[TGFα) and (2) γ-aminobutyric acid (GABA)-mediated excitation. Both are known to be present in surgically-resected HH tissue, but are present in patients with and without a history of CPP, suggesting the possibility that symptoms related to HH are directly associated with the region of anatomic attachment of the HH to the hypothalamus, which determines functional network connections, rather than to differences in HH tissue expression or pathophysiology. CPP associated with HH presents with isosexual development prior to the age of 8 years in girls and 9 years in boys. It is not uncommon for CPP with HH to present in children at an earlier age in comparison to other causes of CPP, including in infancy. Surgical resection of the HH can be effective for treating CPP, but is reserved for patients with intractable epilepsy, since GnRH agonists are widely available and effective treatment. Other endocrine disturbances with HH are rare, but can include growth hormone deficiency, hypothyroidism, and adrenal insufficiency. Diabetes insipidus is commonly encountered postoperatively, but is not observed with HH prior to surgical intervention.

Hamartoma of the optic nerve in a young child­case report and review of the literature.

PURPOSE: Hamartomas are well described but yet incompletely understood sporadic benign lesions that can arise in various locations. Hypothalamic hamartomas of infancy are often associated with severe developmental disturbances. We present a case of an infant boy with a hamartoma that arises from the optic nerve and lead to progressive unspecific seizure activity, behavioral problems and precautious puberty. METHODS: A 1-year-old male patient was presented with horizontal nystagmus and developmental retardation. Magnetic resonance imaging (MRI) with contrast revealed an isointense mass ventral of the chiasm consistent with a hamartoma. Soon after the MRI, the mother of the patient reported gelastic-like seizures. The patient was evaluated by an interdisciplinary team, and surgery was recommended. Intraoperatively, a firm attachment to the optic nerve was recognized and a thin remnant layer of tissue was left behind. RESULTS: After an uncomplicated near total resection, the patient improved significantly. After 6 months, the frequency of seizures reoccurred, which were again unresponsive to antiepileptic medication. In a second operation, a complete resection of the remnants was performed, and the patient showed lasting clinical improvement. CONCLUSION: We conclude that hamartomas mimicking hypothalamic symptoms can also arise from the optic pathway and that a reoperation, if feasible, of even small remnants is essential in order to achieve lasting symptom relieve.

Radiology case of the month. 49-year-old female with an anterior mediastinal mass.

Castleman's disease is an uncommon benign lymphoproliferative disorder characterized by hypervascular lymphoid hyperplasia. Two distinct histologic variants of Castleman's disease exist - hyaline vascular type and plasma cell type. The etiology is uncertain; however, it is thought to be inflammatory or hamartomatous in nature. Castleman's disease can occur at any age with a peak incidence in the third to fourth decade. This article presents a case of Castleman's disease in a female patient and aims to educate about the natural history, diagnosis, and management of the disease.

Arterial embolization in the treatment of multiple renal and hepatic hamartomas with spontaneous hemorrhage and 2-year follow-up: a case report.

BACKGROUND: Hamartoma is a common benign tumor that usually occurs in the kidney, liver, lung, and pancreas. Large renal hamartomas may spontaneously rupture and hemorrhage, which is potentially life-threatening. CASE PRESENTATION: This report describes a 46-year-old Han Chinese female patient with multiple renal and hepatic hamartomas with rupture and hemorrhage of giant hamartoma in the left kidney. She underwent arterial embolization three times successively, and her condition was stable during the 2-year follow-up. This report includes a review of the relevant literature CONCLUSIONS: the findings in this report and previous literature suggest that arterial embolization can not only rapidly treat hamartoma hemorrhage in the acute phase but can also effectively control multiple lesions in the long term after repeated multisite arterial embolization.

Congenital smooth muscle hamartoma on the face treated using vascular laser.

A congenital smooth muscle hamartoma is a rare, benign proliferation of smooth muscle bundles in the dermis that is usually diagnosed in the neonatal period or infancy. Surgical excision is the first-line therapeutic option, but in certain areas such as the face, surgery may be too aggressive, and different treatments should be considered. We present the case of a congenital smooth muscle hamartoma on the face treated using pulsed dye laser with good response.

Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics.

Hypothalamic hamartomas are uncommon but well-recognized developmental malformations that are classically associated with gelastic seizures and other refractory seizure types. The clinical course is often progressive and, in addition to the catastrophic epileptic syndrome, patients commonly exhibit debilitating cognitive, behavioral, and psychiatric disturbances. Over the past decade, investigators have gained considerable knowledge into the pathobiological and neurophysiological properties of these rare lesions. In this review, the authors examine the causes and molecular biology of hypothalamic hamartomas as well as the principal clinical features, neuroimaging findings, and electrophysiological characteristics. The diverse surgical modalities and strategies used to manage these difficult lesions are outlined in the second article of this 2-part review.

Hypothalamic hamartomas. Part 2. Surgical considerations and outcome.

Hypothalamic hamartomas are uncommon developmental heterotopic masses composed of an intermixed array of neurons, glia, and myelinated fibers closely associated with the mammillary bodies. Gelastic seizures, the hallmark feature of hypothalamic hamartomas, commonly present in early childhood. However, patients usually also display a disabling clinical syndrome, which may include various other types of refractory seizures with secondary generalization together with progressive cognitive, behavioral, and psychiatric dysfunction. The hamartoma itself has been unequivocally shown to be intrinsically epileptogenic. Over the past 2 decades there has been considerable effort to develop neurosurgical techniques to treat the epileptic syndrome effectively as well as to improve the neurocognitive and behavioral outcome.

Lipofibromatous hamartoma of the median nerve: a comprehensive review and systematic approach to evaluation, diagnosis, and treatment.

Many modalities exist for diagnosing and treating lipofibromatous hamartoma (LFH), with no clear consensus. This is the first comprehensive study to review the existing literature on LFH of the median nerve and to suggest a systematic approach to its diagnosis and treatment. An electronic and manual search was conducted on Medline, Embase, Google Scholar, Current Contents, and Science Citation Index for original and review articles in English or French, from 1946 to November 2012. After 2 levels of screening, 106 references containing case reports were retained. Data extraction included patient demographics, clinical information, diagnostic modalities, treatment, and follow-up. A total of 180 cases were reported in the literature. One third of patients had associated macrodactyly (32%). Gender distribution is equal in LFH with or without macrodactyly, with most patients (71%) presenting before age 30 years. The main presenting symptom is an enlargement (88%) over the volar forearm, wrist, or hand, with or without digital hypertrophy, followed by paresthesia (39%). A soft, mobile, nontender, nonfluctuant mass with variable degree of compressive median neuropathy is found on physical examination. Biopsy, which reveals abundant mature fat cells and fibrous connective tissue infiltrating between nerve fascicles and the space between the epineurium and the perineurium, is not necessary because the pathognomonic features of the mass on magnetic resonance imaging offer an accurate diagnosis. Treatment of nerve compression symptoms and macrodactyly should be addressed separately. Carpal tunnel release is the mainstay of treatment for neuropathy, and ray or digital amputation, wedge osteotomy, middle phalangectomy with arthroplasty, and epiphysiodesis are suggested options in the management of macrodactyly. Based on our review of the literature, we propose an algorithm for the diagnosis and treatment of LFH of the median nerve with or without macrodactyly.

Multiples in dermatology: markers for special considerations in diagnosis, therapy, and prognosis.

Multiples of certain cutaneous lesions should alert the clinician to a wider differential diagnosis and possible systemic associations although the individual skin lesion is often benign in nature and banal in appearance. This article focuses on such findings in selected multiple cutaneous lesions that may be classified according to the primary cutaneous feature as vascular, pigmentary, nevoid hamartomas, and tumors/neoplastic conditions. The clinical presentation of each entity and its significance, appropriate diagnostic evaluation, therapeutic and prognostic considerations and pertinent differential diagnoses will be reviewed.

Hypothalamic hamartoma with precocious puberty: a case report.

Hypothalamic hamartoma (HH) is one of the most important causes of central precocious puberty in male children. Hamartomas are malformations composed of ectopic gonadotropic hormone (GnRH) neurons which secrete pulsatile gonadotropin releasing hormone. They are generally observed in children under 3 years. A case of 11/3 year-old male child presented with premature development of secondary sexual characters i.e., growth of pubic and axillary hair, enlargement of penis and acne over the face for the last 5 months. On physical examination, his height was 1.02 m and his weight 18kg, enlarged penile length of which 58mm; testicles were enlarged in size right one measuring 32X25mm and the left 30X23mm. His hematological and other biochemical investigations revealed no abnormality. Plain radiographic examination revealed radiological bone age of about 8-9 years. Endocrinological findings were as follows: Follicle stimulating hormone (FSH): 1.5mIU/ml, Luteinizing hormone (LH): 9.1mIU/ml, Testosterone: 701ng/dl (Testosterone level less than 30ng/dl in prepubertal age). Thyroid function tests were normal. Patient showed no adrenal pathology on ultrasound and his testicular parenchyma was homogeneous echotexture with the size of 30X22X16mm on the right (volume 5.4ml) and 30X20X15mm on the left (volume 4.6ml). With above physical & endocrinological findings and age of the child, it was suspected as a case of central precocious puberty. Subsequently MR imaging of the brain done & showed an oval non-enhancing pedunculated hypothalamic mass arising from the tubercinereum that was iso to hypointense to brain parenchyma on T1 - and intermediate signal on T2-weighted images, 20X10X10mm in diameter, extending into suprasellar cistern. During follow up after 06 months of starting conservative medication with gonadotropin-releasing hormone (GnRH) analog (Leuprolide acetate), his progression of puberty has been arrested and the testosterone level 18ng/dl, which is normal for his age.

[Hypothalamic hamartoma in paediatric patients: clinical characteristics, outcomes and review of the literature]. / Hamartoma hipotalámico en la edad pediátrica: características clínicas, evolución y revisión de la literatura.

OBJECTIVE: To describe the epidemiological and clinical-electroencephalographic characteristics, and associated morbidity of patients with hypothalamic hamartoma, as well as the treatment followed and outcomes PATIENTS AND METHODS: We have retrospectively reviewed the medical histories of 10 patients diagnosed with hypothalamic hamartoma by magnetic resonance imaging over the last 20 years. RESULTS: The age of onset of epilepsy in patients with hypothalamic hamartoma in our series was between the first days of life and 2 years. Of the 10 total patients, 8 had epileptic seizures during its progress. All of them had gelastic seizures, in addition to other types of seizures, with the most common being partial simple seizures. The electroencephalographic findings recorded were highly variable. One of the patients developed epileptic encephalopathy. Five patients had some kind of conduct disorder. Five patients had cognitive problems. At least 2 different antiepileptic drugs were measured in 8 of the patients who had seizures, and in 6 of these some type of non-pharmacological treatment had been used with the objective of seizure control. Only in 3 of 8 patients has been achieved Acceptable control of epilepsy had only been achieved in 3 out the 8 patients. Five patients of the series developed precocious puberty. The average time of follow-up of the series was approximately 6 years. CONCLUSIONS: Epilepsy is the most frequent manifestation of hypothalamic hamartomas. Most cases were drug-resistant, which led to difficulties in the management of these patients, requiring surgery for their control on many occasions. Psychiatric comorbidity and cognitive impairment is common.

Lingual Hamartomas: Clinical Characteristics, Diagnostic Evaluation, Treatment, and Outcomes.

OBJECTIVES/HYPOTHESIS: To further clinically characterize lingual hamartomas, and to consolidate literature by analyzing clinical presentation, diagnostic evaluation, treatment, and outcomes. STUDY DESIGN: Retrospective chart review and literature review. METHODS: Case series from 1989 to 2020 at a tertiary pediatric center; follow-up ranging from 2 months to 12 years. Patient demographics, clinical presentations, physical examination findings, surgical pathology, operative methods, pre-operative imaging, and follow-up. A review of English-language literature from 1945 to 2020 was conducted. RESULTS: Seven patients (four male, three female) with nine lingual hamartomas were identified. Average age at surgical excision was 7.9 months (SD 3.5 months, range 3 to 14 months). Follow-up ranged from 2 months to 12 years, with all patients having no recurrence. Physical examination identified five pedunculated hamartomas and two sessile hamartomas. One patient had a neck CT, one had neck ultrasound, and two had facial MRIs. CT and ultrasounds confirmed presence of cervical thyroid. MRI suggested no muscular invasion for one patient, whereas motion artifact obscured findings for the other patient. Most patients who presented with dysphagia or poor weight gain achieved post-surgical improvement. The present cases combined with the literature review identified 57 patients with 63 lingual hamartomas. CONCLUSIONS: Lingual hamartomas appear as hypovascular pedunculated masses near the foramen cecum. There is no demographic predisposition, and most are identified during infancy. Imaging is not necessary, unless there is concern for lingual thyroid, in which case thyroid ultrasound should be performed. Surgical excision is curative, with dysphagia resolution and low likelihood for recurrence. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:E2080-E2088, 2021.

Hypothalamic Hamartomas: Evolving Understanding and Management.

Hypothalamic hamartomas (HH) are rare, basilar developmental lesions with widespread comorbidities often associated with refractory epilepsy and encephalopathy. Imaging advances allow for early, even prenatal, detection. Genetic studies suggest mutations in GLI3 and other patterning genes are involved in HH pathogenesis. About 50%-80% of children with HH have severe rage and aggression and a majority of patients exhibit externalizing disorders. Behavioral disruption and intellectual disability may predate epilepsy. Neuropsychological, sleep, and endocrine disorders are typical. The purpose of this article is to provide a summary of the current understanding of HH and to highlight opportunities for future research.

Photodynamic therapy of facial nevus sebaceous.

A 29-year-old man visited our department with an orange-colored patch on his right cheek. A skin biopsy confirmed the diagnosis of nevus sebaceous. As surgical excision was considered too destructive, photodynamic therapy (PDT) was proposed. Sixteen sessions of PDT was performed in total. There was a definitive but transient decrease in sebum production and destruction of the sebaceous glands. Overall, we were not able to achieve long-lasting clinical improvement after PDT.