Laughter isn't always the best medicine, sometimes it's one of the symptoms.

Gelastic seizure is a rare type of seizure characterized by bouts of uncontrolled, stereotyped laughter and often associated with hypothalamic hamartomas. In this case study we review a patient with a low grade ganglioglioma in the temporal lobe, a rare type of brain tumor that commonly causes seizures. The 8-year-old ambidextrous patient presented with seizures starting four days prior to presentation, happening multiple times daily and with each seizure lasting for 5-15 s.

Approach to Loss of Consciousness: Distinguishing Epileptic Seizures, Psychogenic Nonepileptic Seizures, and Syncope.

Transient loss of consciousness (TLOC) is a common emergent neurological issue, which can be attributed to syncope, epileptic seizures, and psychogenic nonepileptic seizures. The purpose of this article is to outline an approach to diagnosing the most common etiologies of TLOC by focusing on the importance of the history and physical examination, as well as targeted diagnostic tests.

EEG Findings in Infants With Neonatal Abstinence Syndrome Presenting With Clinical Seizures.

Neonatal abstinence syndrome (NAS) refers to a constellation of signs occurring in newborn infants who were exposed to opioids or opiates . These manifestations include poor feeding, gastrointestinal disorders, abnormal sleep patterns, and neurological signs such as jitteriness, tremors, and seizures (1, 2). Myoclonus, jitteriness, and tremors often may be interpreted as seizures and therefore treated as epileptic seizures.

Translational significance of Nodal, Cripto-1 and Notch4 in adult nevi.

The TGF-β associated growth factor Nodal is highly expressed in aggressive metastatic melanoma. Determining the risk for melanomagenesis from Nodal expression in nevi prior to the development of melanoma may be useful for both the screening and prevention of melanoma. Tissue sections of human adult nevi with or without a history of melanoma were stained by immunohistochemistry (IHC) for Nodal, the Nodal co-receptor Cripto-1, and Notch4, which have previously been shown to be associated with Nodal expression in melanoma.

Epithelioid and fusiform blue nevus of chronically sun-damaged skin, an entity distinct from the epithelioid blue nevus of the Carney complex.

Epithelioid blue nevus (EBN) was first described in patients with Carney complex (CNC) and subsequently shown to also occur sporadically. Over 50% of patients with CNC harbor mutations in the gene PRKAR1A, which codes for protein kinase A regulatory subunit 1α (R1α) involved in the signaling pathway regulating melanogenesis and melanocytic proliferation. Immunohistochemical expression of R1α has been shown to be absent in the majority of pigmented epithelioid melanocytomas and all CNC-associated EBNs but present in melanomas and other melanocytic nevi.

The role of 8q24 copy number gains and c-MYC expression in amelanotic cutaneous melanoma.

Cutaneous melanomas may be quite heterogeneous in their clinical, histological and molecular findings. Correlating these features may help identify distinctive subgroups of melanomas and improve our overall understanding and prognostication of melanoma. We recently identified a subgroup of melanomas with increased chromosomal copy number gains in 8q24 at MYC having several distinctive clinical and histopathological characteristics, including an aggressive clinical course and an amelanotic clinical and histological appearance.

Distinctive clinical and histologic features in cutaneous melanoma with copy number gains in 8q24.

Cutaneous melanoma may be quite heterogeneous in its clinical, histologic, and molecular features. Yet, the current classification of melanoma is limited to 4 main subtypes on the basis of clinical and histopathologic features and has shown limited impact on clinical management including prognostication and treatment. Advances in our understanding of the driving molecular pathways in melanoma and the importance of the mitogen-activated protein kinase pathway have shown that specific activating mutations in oncogenes may correlate with characteristic clinical and histologic features.

Melanocytic nevi with an atypical epithelioid cell component: clinical, histopathologic, and fluorescence in situ hybridization findings.

Combined melanocytic nevi can contain a phenotypically distinct population of large atypical epithelioid cells in a background of smaller banal-appearing melanocytes. On the basis of the pattern of proliferation and degree of pigmentation, nevi with this pattern have been referred to as nevi with an atypical epithelioid cell component (N-AECC). When N-AECC display sheet-like or an expansile nodular growth pattern, notable cytologic atypia, and any level of mitotic activity, they can be difficult to distinguish from melanoma.

Copy number gains in 11q13 and 8q24 [corrected] are highly linked to prognosis in cutaneous malignant melanoma.

Relating specific genetic alterations to prognosis may help improve prognostication in melanoma, may identify key oncogenic drivers in cancer, and may assist in developing targeted therapies. Characteristic genetic alterations in melanoma include chromosomal copy number aberrations. We evaluated 97 melanomas (55 metastasizing and 42 nonmetastasizing) after a minimum 5-year follow-up in a case-control study using fluorescence in situ hybridization, targeting commonly altered chromosomal loci in melanoma.

Fluorescence in situ hybridization as an ancillary method for the distinction of desmoplastic melanomas from sclerosing melanocytic nevi.

The histopathologic distinction of desmoplastic melanomas from sclerosing (desmoplastic) melanocytic nevi can be difficult, especially when evaluating a partial or superficial biopsy. In the study reported herein, we applied and explored the use of a novel ancillary method, a four-probe fluorescence in situ hybridization (FISH) assay targeting RREB1, MYB, Cep6 and CCND1, to this diagnostic problem. Fifteen sclerosing melanocytic nevi, including desmoplastic Spitz nevi, conventional nevi with prominent stromal sclerosis and sclerotic blue nevi, as well as 15 examples of desmoplastic melanoma, were examined.

Sensitivity of fluorescence in situ hybridization for melanoma diagnosis using RREB1, MYB, Cep6, and 11q13 probes in melanoma subtypes.

Objective: To evaluate the diagnostic sensitivity of fluorescence in situ hybridization (FISH) using probes targeting 6p25, 6q23, 11q13, and Cep6 in melanoma subtypes.

Design: Blinded comparison of chromosomal copy number changes detected using FISH targeting 6p25, 6q23, 11q13, and Cep6 in benign nevi and melanoma subtypes.

Setting: Dermatopathology Laboratory, Department of Dermatology, Northwestern University, Chicago, Illinois.

Distinguishing epithelioid blue nevus from blue nevus-like cutaneous melanoma metastasis using fluorescence in situ hybridization.

Blue nevus (BN)-like cutaneous melanoma metastasis is a well-recognized variant of melanoma metastasis. These lesions may clinically and histologically simulate benign blue nevi. The histologic changes may be indistinguishable from conventional blue nevi or epithelioid blue nevi (EBN), a benign dermal-based melanocytic neoplasm with epithelioid morphology and heavily pigmented cytoplasm.