neurocutaneous syndromes/turse

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Serous retinal detachment and cystoid macular edema in a patient with Wyburn-Mason syndrome.

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Logi sisse

Wyburn-Mason syndrome is a rare phacomatosis characterized by unilateral arteriovenous malformations (AVMs) involving the brain, retina, and (rarely) the skin. The diagnosis is concluded with dilated fundus examination and markedly dilated tortuous vascular loops with arteriovenous communications on

[Melkersson Rosenthal syndrome. Report of two pediatric cases].

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Logi sisse

Melkersson Rosenthal syndrome is a very infrequent disease of unknown etiology, chronic and progressive course, with neurocutaneous disease that affects the orofacial innervation and mucocutaneous tissues with non-caseating granulomatous infiltration. Clinically, it is characterized by the

Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?

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Logi sisse

Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumors with a birth incidence rate of 1 in 2500-3000. 50% of cases are sporadic. The diagnosis is exclusively based on clinical assessment with

Tuberous sclerosis complex presenting as convulsive status epilepticus followed by hypoxic cerebropathy: A case report.

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Tuberous sclerosis complex (TSC) is a relatively rare, autosomal dominant, and progressive neurocutaneous disorder involving multiple organs. Heterozygous mutations in the TSC1 gene located on chromosome 9 (9q34.13) or the TSC2 gene located on chromosome 16 (16p13.3) have been shown to

An unusual case of acute glaucoma in Sturge-Weber syndrome.

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OBJECTIVE Sturge-Weber syndrome is a phakomatosis with involvement of the eyelids, conjunctiva, choroid, and retina. Congenital glaucoma is the most common ocular complication resulting from raised episcleral venous pressure. We present an unusual case of glaucoma induced by pupillary block in an

Congenital lymphedema as a rare and first symptom of tuberous sclerosis complex

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Logi sisse

Lymphedema are characterized by interstitial edema leading to swelling of extremities. They can be divided into primary and secondary lymphedema. Developmental abnormalities of the lymphatic system are responsible for the primary form of lymphedema. The secondary form of lymphedema is caused by

[Triple primary intracranial tumors of different cell types: a case report].

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Logi sisse

We report a case of triple intracranial tumors of different cell types without phacomatosis. The patient was a 77-year-old female who was hospitalized with left hemiparesis and vomiting. Computed tomography (CT) scans revealed a large tumor mass in the right frontal lobe and relatively small tumor

Juxtapapillary hemangioma: a case report and review of clinical features and management of von Hippel-Lindau disease.

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BACKGROUND The phakomatose von Hipple-Lindau (VHL) disease is a multisystem disorder characterized by hemangioblastomas of the central nervous system (CNS), retinal angiomas, and multiple cysts and tumors of the viscera. Retinal capillary hemangiomas are the most common manifestation of VHL disease,

Predictors of abnormal findings of computed tomography of the head in pediatric patients presenting with seizures.

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OBJECTIVE To develop a preliminary clinical decision guideline, using characteristics of ED pediatric patients presenting with seizures, that successfully predicts all abnormal results of computed tomography (CT) of the head. METHODS We assembled a retrospective case series in the ED of a tertiary

Two primary brain tumors, meningioma and glioblastoma multiforme, in opposite hemispheres of the same patient.

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We report a case with double primary intracranial tumors of different cell types without phacomatosis. The patient was hospitalized due to progressive memory impairment, headaches, dysarthria and right hemiparesis. Initial computed tomographic (CT) examinations revealed a large hyperdense tumor over

Spherophakia and Ectopia Lentis in a Sturge-Weber Patient: A Case Report

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Logi sisse

Sturge-Weber syndrome (SWS) is a rare, sporadic neurocutaneous disorder, primarily characterized by port-wine stain (PWS) over the ophthalmic division of the trigeminal nerve (V1) territory (hallmark feature) and glaucoma (in 30-60% of cases). Other ocular manifestations include episcleral

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