Successful treatment of late-onset nevus comedonicus with Er:YAG laser.

Nevus comedonicus, a rare congenital hamartoma of the pilosebaceous unit, is characterized by keratotic plugging. It usually occurs after birth and during early childhood. It rarely appears in adulthood. Despite the benign nature of the condition, it usually requires treatment due to aesthetic reasons. Several treatments have been reported in nevus comedonicus, most of them resulting with recurrences. Here, we report a case of nevus comedonicus with adult onset, successfully treated with erbium-doped yttrium aluminum garnet (Er:YAG) laser therapy.

Elevated D-Dimer Combined with Persistent Acupuncture-like Chest Pain in An Elderly Patient Misdiagnosed as Pulmonary Embolism Finally Proved as Lung Hamartoma with Secondary Lung Infection by Bronchoscopy Biopsy: a Case Report and Literature Review.

BACKGROUND: Pulmonary hamartoma is one of the most common benign tumors of the lung, the symptoms are often atypical, so its diagnosis is not so easy. We presented an elderly man with elevated D-dimer combined persistent acupuncture-like chest pain misdiagnosed as pulmonary embolism finally proved as lung hamartoma with secondary lung infection by bronchoscopy biopsy. METHODS: Appropriate laboratory tests were carried out. The chest computed tomography (CT) scan and bronchoscopy were performed for diagnosis. RESULTS: Laboratory tests showed D-dimer was 2,615.88 ng/mL, the chest CT scan showed the right lung portal occupying lesions accompanied by obstructive changes in the middle of the right lung and mediastinal lymphade-nopathy with partial calcification. Bronchoscopy showed the new spherical neoplasm in the middle of the right lung completely blocked the opening of the bronchus, the surface of the neoplasm was smooth and blood vessels were abundant, pathological result was lung hamartoma. CONCLUSIONS: Elevated D-dimer is not a specific index of pulmonary embolism. When a patient's D-dimer rise combined with severe chest pain, the physician should be wary of pulmonary embolism, myocardial infarction, aortic dissection, and other emergencies, and should also take into account serious infections, tumors, and other diseases. Diagnosis needs further related examination. Chest CT scan has guidance function, and when the chest CT scan suggests the occupying lesion, the pathology examination is the key to identify the benign tumor.

Clinical features and evolution of the gelastic seizures-hypothalamic hamartoma syndrome.

Gelastic seizures, usually with onset in early infancy, are the hallmark manifestation of hypothalamic hamartoma. This seizure type is directly generated by hamartoma itself, intrinsically epileptogenic because of its anatomofunctional organization. Other types of seizures, focal or generalized, may appear during the evolution, probably resulting from mechanisms of secondary epileptogenesis. Nevertheless, the clinical expression and the severity of the syndrome, ranging from a focal drug-resistant epilepsy to a catastrophic generalized encephalopathy with severe cognitive and behavioral impairments, depends on the size and the site of attachment of the hamartoma. Early suspicion, timely diagnosis, and appropriate treatment are mandatory to reverse a potential catastrophic evolution of this condition.

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.

Hypothalamic hamartoma.

Hypothalamic hamartomas are rare congenital malformations presenting with central precocious puberty, gelastic epilepsy and developmental retardation. We report a case of an 11-month-old girl with recurring bloody vaginal discharge. Diagnosis of hypothalamic hamartoma was made on the basis of clinical findings and specific features on magnetic resonance imaging of the hypothalamic region.

Psychogenic gelastic seizures in a patient with hypothalamic hamartoma.

Gelastic seizures are classically associated with hypothalamic hamartoma. The most effective treatment for gelastic epilepsy is surgery, although confirming that a hypothalamic hamartoma is an epileptic lesion prior to surgical intervention is challenging. Here, we report the case of a patient with a hypothalamic hamartoma who was diagnosed with psychogenic non-epileptic gelastic seizures using video-EEG monitoring. [Published with video sequences].

Transendoscopic intraoperative recording of gelastic seizures from a hypothalamic hamartoma.

OBJECT: The differential diagnosis of hypothalamic masses in children includes hamartomas, which are associated with gelastic seizures and endocrine dysfunction. The purpose of this study was to utilize transendoscopic electroencephalography (EEG) recording at the time of tissue biopsy to further assist in diagnosis, determination of prognosis, and treatment planning. METHODS: We present the case of an infant with gelastic seizures and a large hypothalamic mass lesion. Despite a clinical and radiographic presentation typical of hypothalamic hamartoma (HH), slight growth on serial imaging raised concern for a diagnosis of intrinsic neoplasm. Biopsy of the lesion was recommended. RESULTS: Transventricular, endoscopic biopsy, was undertaken, with concurrent intraoperative, transendoscopic EEG recording using a standard epilepsy depth recording macroelectrode. Numerous electrographic seizures were recorded. Histopathology revealed a HH. CONCLUSION: This is the first report of intraoperative macroelectrode recording of electrographic seizures transendoscopically from a HH. This technique may prove useful for diagnosis, prognosis and treatment planning, as well as to guide transendoscopic therapeutic interventions for HH.

Large hypothalamic hamartoma with calcification and cystic components in an adult--case report.

A 24-year-old female presented with an unusual case of hypothalamic hamartoma manifesting as seizure. Neuroimaging findings were atypical, showing the large tumor (maximum diameter, 50 mm) with a cystic component and calcification. Surgery was performed and histological examination demonstrated heterotopia. Hamartoma should be considered in the differential diagnosis of a suprasellar, non-enhanced mass attached to the hypothalamus. Excessive unnecessary surgery should be avoided, and intraoperative pathological examination may lead to enhanced assessment and better outcomes.

Fetal MRI of a hypothalamic hamartoma in Pallister-Hall syndrome.

Fetal magnetic resonance imaging is increasingly being used as an adjunct to ultrasound. It allows for better visualization of in utero brain development and intracranial abnormalities (especially cerebral malformations). Hypothalamic hamartoma is a nonneoplastic malformation resembling normal hypothalamic tissue both histologically and on magnetic resonance imaging. Although it is rare, this entity is important to recognize for appropriate management and genetic counseling. We describe a unique patient in whom magnetic resonance imaging of the fetal brain allowed a prenatal diagnosis of Pallister-Hall syndrome.

[A successful surgical case of a hypothalamic hamartoma with gelastic seizure: a case report].

Gelastic seizure is a rare form of epilepsy defined as automatic bouts of laughter without mirth commonly associated with a hypothalamic hamartoma. Surgical treatment of hypothalamic hamartomas is associated with a high risk of complications because of the close vicinity of adjacent structures such as the optic tracts and mammillary bodies. This case was an 11-year-old girl who presented with gelastic seizure and complicated partial seizure. She developed gelastic seizure at a frequency of 10 bouts per day. She was found to have an elliptical mass close to the left hypothalamus. The signal intensity on magnetic resonance imaging (MRI) was consistent with hypothalamic hamartoma. The patient underwent surgical resection by a subtemporal approach. Pathological findings confirmed the diagnosis of hypothalamic hamartoma. Postoperative MRI demonstrated that the hypothalamic hamartoma was successfully resected. Twenty four months after surgery, complicated partial seizure in this patient has improved to Engel's class 1a and gelastic seizure has improved to Engel's class IIIa.

Clinical spectrum and difficulties in management of hypothalamic hamartoma in a developing country.

AIM: We describe the clinical features, treatment and prognosis in a series of patients with epilepsy secondary to hypothalamic hamarthomas (HH) in a developing country. MATERIALS AND METHODS: Eight patients with epilepsy and HH were included between 1997 and 2006. We analyzed gender, age, age at seizure onset (ASO), seizure types (ST), mental retardation (MR), precocious puberty (PP), electroencephalogram (EEG)-magnetic resonance imaging (MRI) features and response to treatment. RESULTS: Mean age 25.1 years, 2/6 female/male, none had PP, ASO 4.5 years. Complex partial seizure were the most frequent (100%), mean similar to those seen in temporal (62.5%) or frontal lobe epilepsy (37.5%). Exactly 87.5% developed gelastic seizures (GS). Half of the patients showed MR. Mild-to-severe MR was associated with the presence of multiple ST including atonic and complex partial seizures with frontal semiology. Interictal EEG was abnormal in 87.5% patients. Video EEG was performed in three cases with unspecific findings. HH were small and sessile in seven patients whereas large and pedunculated in one. All patients were refractory to medical treatment. In five, an additional procedure was performed without any significant improvement. CONCLUSION: These series show the heterogeneous spectrum of this entity and the difficulties in its treatment in a developing country.

Telarquia precoz como signo guía de pubertad precoz central / No disponible

La telarquia precoz puede ser una patología benigna sin trascendencia clínica o el inicio de una pubertad precoz verdadera. En este artículo intentamos repasar las diferentes causas de la pubertad precoz, haciendo hincapié en las causas tumorales del sistema nervioso central como etiología de este cuadro, sobre todo, desde la introducción de técnicas de imagen como la resonancia magnética. En el caso clínico que presentamos llama la atención la edad tan temprana a la que se desarrolla la pubertad y cómo en estos casos es obligatorio descartar siempre una etiología tumoral; el hamartoma de hipotálamo es una de las causas más frecuente (AU)

The precocious thelarche can be either a benign condition without clinical significance or the beginning of a real precocious puberty. We try to revise, in this article, the different causes of precocious puberty, emphasizing the tumours of the central nervous system as the aetiology of this condition, especially after the introduction of image techniques as the magnetic resonance. In the clinical case we present, it is remarkable the early age the puberty is developed. In these cases, it is always obligatory to rule out the tumour aetiology being the hypothalamus hamartoma one of the most frequent causes (AU)

Successful resection of Hypothalamic Hamartoma with intractable gelastic seizures--by transcallosal subchoroidal approach.

A 19-year old female with intractable gelastic seizures was found to have 0.7 x 1.8 x 1.8 cm elliptical mass on the floor of the third ventricle. The signal intensity on the Magnetic Resonance Imaging (MRI) was consistent with the Hypothalamic Hamartoma (HH). Ictal EEG demonstrated rhythmic 7 Hz waves over Fp2, F4, and C4 with spreading to the right temporal region and then bilaterally. Ictal Single Photon Emission Computerized Tomography (SPECT) showed hyperperfusion at hypothalamic and medial frontopolar regions. The patient underwent surgical resection using Trans Callosal Subchoroidal Approach (TCSA) to the third ventricle. Pathological finding confirmed the diagnosis of hypothalamic hamartoma. Following the operation, she has been seizure free up to 12 months. Thereafter, provoked seizures seldom occurred and there has been improvement in her memory, emotional control and independence. This appears to be the first report of this surgical approach for HH, which is less likely to disturb memory function compared to previously described interfoniceal approach.

Emergency transcallosal resection of hypothalamic hamartoma for "status gelasticus".

Hypothalamic hamartomas are rare developmental malformations of the inferior hypothalamus. Typically they result in symptomatic, refractory mixed seizure disorder with trademark gelastic or laughing seizures. We present a 30-month-old boy with a hypothalamic hamartoma and a nearly 2-month history of near-continuous gelastic seizures, which we have labeled "status gelasticus." The seizures were refractory to multiple antiepileptic drugs (AEDs), and emergency transcallosal resection of the hypothalamic hamartoma was performed with resultant near-immediate cessation of the seizures. At 12-month follow-up, the patient was averaging one brief gelastic seizure every 2 weeks, with a longest seizure-free period of 2 months.

Hypothalamic hamartoma associated with a craniopharyngeal canal.

Hypothalamic hamartoma is a rare congenital lesion. We present the case of a 7-year-old girl who suffered from precocious puberty, the cause of which was diagnosed by using MR imaging and CT as pedunculated hypothalamic hamartoma associated with a large craniopharyngeal canal and sellar spine mimicking pituitary duplication.

Differential diagnosis of suprasellar tumors in children.

In contrary to the adult age the most common suprasellar tumors in children are with decreasing frequency craniopharyngiomas, chiasmatic/hypothalamic low-grade gliomas, germinomas and lesions attributable to a Langerhans cell histiocytosis. For differential diagnostic purposes also the rare hypothalamic hamartoma and meningeal metastases in the infundibular recess of the third ventricle are included. The typical aspects of the various tumors on computed tomography (CT) and magnetic resonance imaging (MRI) together with important clinical differences are illustrated. On the basis of imaging results and clinical symptoms differential diagnosis between the various tumor entities should be feasible in many cases. Of course, only in strictly defined cases like typical chiasmatic/hypothalamic and optic pathway gliomas or bilocular germ cell tumors a histological confirmation is dispensable.