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Cooccurrence of Darier's Disease and Epilepsy: A Pediatric Case Report and Review of the Literature.

ABSTRACT: Darier's disease is a skin disorder characterized by multiple eruptions of hyperkeratosis or crusted papules at seborrheic areas with histologic acantholysis and dyskeratosis. It is caused by mutations in a single gene, being ATP2A2 and that is expressed in the skin and brain. The cooccurrence of various neurologic and psychiatric diseases with Darier's disease has been reported frequently in literature. They include mood disorders, epilepsy, encephalopathy, and schizophrenia. In this study, we report a pediatric case with the cooccurrence of Darier's disease and epilepsy. We also revised current English literature on this topic.

SUBMITTER: Celik T

PROVIDER: S-EPMC4166657 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Cooccurrence of Darier's Disease and Epilepsy: A Pediatric Case Report and Review of the Literature.

Celik Tamer T Celik Umit U Donmezer Cigdem C Komur Mustafa M Tolunay Orkun O Demirtürk Pelin P

Case reports in pediatrics 20140901

Darier's disease is a skin disorder characterized by multiple eruptions of hyperkeratosis or crusted papules at seborrheic areas with histologic acantholysis and dyskeratosis. It is caused by mutations in a single gene, being ATP2A2 and that is expressed in the skin and brain. The cooccurrence of various neurologic and psychiatric diseases with Darier's disease has been reported frequently in literature. They include mood disorders, epilepsy, encephalopathy, and schizophrenia. In this study, we ...[more]

PMID: 25258690

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Project description:BackgroundIntracranial teratoma represents a rare neoplasm, occurring predominantly during childhood. Characteristic symptoms depend on the location but are mainly hydrocephalus, visual disturbances, hypopituitarism, and diabetes insipidus. Initial diagnosis can be challenging due to similar radiological features in both teratomas and other lesions such as craniopharyngiomas. Gross total resection is recommended if feasible and associated with a good prognosis.Case descriptionA 10-year-old girl presented with newly diagnosed growth retardation, fatigue, cephalgia and bilateral hemianopia. Further laboratory analysis confirmed central hypothyroidism and hypercortisolism. Cranial magnetic resonance imaging showed a cystic space-occupying lesion in the sellar and suprasellar compartment with compression of the optic chiasm without hydrocephalus present, suspicious of craniopharyngioma. Subsequently, an endonasal endoscopic transsphenoidal near-total tumor resection with decompression of the optic chiasm was performed. During postoperative recovery the patient developed transient diabetes insipidus, the bilateral hemianopia remained unchanged. The patient could be discharged in a stable condition, while hormone replacement for multiple pituitary hormone deficiency was required. Surprisingly, histopathology revealed conspicuous areas of skin with formation of hairs and squamous epithelia, compatible with a mature teratoma.ConclusionsWe present an extremely rare case of pediatric sellar teratoma originating from the pituitary gland and a review of literature focusing on the variation in presentation and treatment. Sellar teratomas are often mistaken for craniopharyngioma due to their similar radiographic appearances. However, the primary goal of treatment for both pathologies is to decompress eloquent surrounding structures such as the optic tract, and if applicable, resolution of hydrocephalus while avoiding damage to the pituitary stalk and especially the hypothalamic structures. If feasible, the aim of surgery should be gross total resection.

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Cooccurrence of Darier's Disease and Epilepsy: A Pediatric Case Report and Review of the Literature.

Publications

Cooccurrence of Darier's Disease and Epilepsy: A Pediatric Case Report and Review of the Literature.

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