RESTLESS LEG SYNDROME

Restless legs syndrome (RLS) is a chronic condition, with onset at any age, characterized by urgency to move the legs and unpleasant sensations, worsening at rest and in the evening and relieved by the movement. Pharmacological approaches, including benzodiazepines, dopaminoagonists, levodopa and antiepileptics, showed substantial inter-individual variability of efficacy and side effects. We report the case of a woman who did not respond to any previous pharmacological treatment, successfully treated with hydroxyzine hydrochloride. The efficacy of this first-generation antihistamine with potent anticholinergic properties in our RLS case may resemble the action of several anticholinergic drugs in Parkinson Disease, reasserting the possibility of a common pathophysiological background shared by these two distinct clinical entities.

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Introduction

Restless legs syndrome (RLS) is a frequent neurological disorder characterized by nocturnal motor restlessness accompanied by lower limb paresthesias usually alleviated by the activity.
Epidemiological studies have estimated a prevalence of around 4-10% in the general population ^1].
Several observations suggest the presence of a dopaminergic dysfunction in RLS ¹,^2]. The differential diagnosis includes the neuroleptic-induced akathisia, polyneuropathies, the meralgia paresthetica and the nocturnal leg cramps.
While prochlorperazine, metoclopramide, neuroleptics and some antidepressants have been reported to exacerbate RLS, various classes of drugs showed beneficial effects, and ferrum replacement may be effective in iron-deficient patients [^2]. No previous reports indicated the potential application of hydroxyzine hydrocloride in RLS. We present the case of a patient suffering from RLS, not responding to common drugs, successfully treated with hydroxyzine hydrocloride.

STURGE WEBER SYNDROME

a congenital neurocutaneous disease marked by a port-wine-colored capillary hemangioma over a sensory dermatome of a branch of the trigeminal nerve of the face.
Radiographic examination of the skull reveals intracranial calcification. The cerebral cortex may atrophy, and generalized or focal seizures, angioma of the choroid, secondary glaucoma, optic atrophy, and new cutaneous hemangiomas may develop. There is no known cure. Treatment is supportive and includes anticonvulsive medication.
Sturge-Weber Syndrome (SWS) or also called encephalotrigeminal angiomatosis is a congenital, non-familial disorder of unknown incidence and cause, which is characterized by a congenital port-wine nevus (facial birthmark) leptomenigeal angiomatosis, and glaucoma; it is commonly complicated by epilepsy and hemiparesis. Other symptoms associated with SWS can include eye and internal organ irregularities. Each case of SWS is unique and exhibits the characterizing findings to varying degrees.
The most apparent indication of SWS is a facial birthmark or “Port Wine Stain” (PWS) present at birth and typically involving at least one upper eyelid and the forehead. Much variation in the size of the stain has been reported and may be limited to one side of the face or may involve both sides. The stain, varying from light pink to deep purple, is due to an overabundance of capillaries just beneath the surface of the involved skin. In persons with dark pigmentation, the stain may be difficult to recognize. In rare instances, there is an absence of a PWS. Atypical presentations such as: intracranial venous anomalies, soft tissue hypertrophy, phakomatosis pigmentovascularis, overlapped Klippel-Trenaunay syndrome (cutaneous hemangiomas, venous varicosities and soft tissue or bone hypertrophy of the affected extremities), headache and epilepsy, and an acute life-threatening event have been reported to the medical literature^.
SWS is referred to as complete when both CNS and facial angiomas are present and incomplete when only one area is affected without the other.
The Roach Scale is used for classification, as follows:  
Type I: This is the most common presentation with facial and leptomeningeal angiomas. Glaucoma may be present. Ocular involvement is normally noted within the first year of life. The sclera may appear “bloodshot” as a result of the over-proliferation of blood vessels on the eye. In rare cases, the facial and brain involvement are bilateral (involving both sides of the head). Mental and physical development can be impaired to varying degrees, depending on the degree of vascular malformation throughout the brain and eye. 
Type 2: This type involves a facial angioma and the possibility of glaucoma, but no evidence of intracranial disease. There is no specific time-frame for the exhibition of symptoms beyond the initial recognition of the facial PWS. Throughout the life of the individual, interrelated symptoms may manifest in glaucoma, cerebral blood flow abnormalities, headaches, and various other complications. Additional research needs to be conducted on this type of SWS to determine the course of the syndrome over its natural progression. 
Type 3: This type of SWS is commonly noted to have a leptomeningeal angioma, with no facial involvement and usually no development of glaucoma. Commonly referred to as forme fruste, this type is identified with brain scans. It can also be confused with other diagnoses prior to a brain scan with contrasting agent.
While social stigma is lessened by the absence of PWS, the unknown natural course of the syndrome is still frustrating for parents and professionals treating the condition.

LIST OF RARE DISEASES

Acrocephalosyndactylia	Acrodermatitis
Addison Disease	Adie Syndrome
Alagille Syndrome	Amylose
Amyotrophic Lateral Sclerosis	Angelman Syndrome
Angina Pectoris, Variant	Angiolymphoid Hyperplasia with Eosinophilia
Arnold-Chiari Malformation	Arthritis, Juvenile Rheumatoid
Asperger Syndrome
Bardet-Biedl Syndrome	Barrett Esophagus
Beckwith-Wiedemann Syndrome	Behcet Syndrome
Bloom Syndrome	Bowen's Disease
Brachial Plexus Neuropathies	Brown-Sequard Syndrome
Burkitt Lymphoma
Carcinoma 256, Walker	Caroli Disease
Chagas Disease	Charcot-Marie-Tooth Disease
Chediak-Higashi Syndrome	Chiari-Frommel Syndrome
Chondrodysplasia Punctata	Choreatic Disorders
Churg-Strauss Syndrome	Colonic Pseudo-Obstruction
Colorectal Neoplasms, Hereditary Nonpolyposis	Craniofacial Dysostosis
Creutzfeldt-Jakob Syndrome	Crohn Disease
Cushing Syndrome
Dandy-Walker Syndrome	De Lange Syndrome
Dementia, Vascular	Dermatitis Herpetiformis
DiGeorge Syndrome	Diffuse Cerebral Sclerosis of Schilder
Duane Retraction Syndrome	Dupuytren's Contracture
Dysautonomia, Familial
Ebstein's Anomaly	Ehlers-Danlos Syndrome
Eisenmenger Complex	Ellis-Van Creveld Syndrome
Encephalitis	Enchondromatosis
Epidermal Necrolysis, Toxic
Facial Hemiatrophy	Factor XII Deficiency
Fanconi Anemia	Felty's Syndrome
Fibrous Dysplasia, Polyostotic	Fox-Fordyce Disease
Friedreich Ataxia	Fusobacterium
Gardner Syndrome	Gaucher Disease
Gerstmann Syndrome	Giant Lymph Node Hyperplasia
Glycogen Storage Disease Type I	Glycogen Storage Disease Type II
Glycogen Storage Disease Type IV	Glycogen Storage Disease Type V
Glycogen Storage Disease Type VII	Goldenhar Syndrome
Guillain-Barre Syndrome
Hallermann's Syndrome	Hallervorden-Spatz Syndrome
Hamartoma Syndrome, Multiple	Hartnup Disease
Hepatic Vein Thrombosis	Hepatolenticular Degeneration
Hereditary Motor and Sensory Neuropathies	Hippel-Lindau Disease
Hirschsprung Disease	Histiocytic Necrotizing Lymphadenitis
Histiocytosis, Langerhans-Cell	Histiocytosis, Sinus
Hodgkin Disease	Horner Syndrome
Huntington Disease	Hyperaldosteronism
Hyperostosis, Diffuse Idiopathic Skeletal	Hypopituitarism
Inappropriate ADH Syndrome	Intestinal Polyps
Isaacs Syndrome
Kartagener Syndrome	Kearns-Sayer Syndrome
Keratosis Follicularis	Klippel-Feil Syndrome
Klippel-Trenaunay-Weber Syndrome	Kluver-Bucy Syndrome
Korsakoff Syndrome
Lafora Disease	Lambert-Eaton Myasthenic Syndrome
Landau-Kleffner Syndrome	Langer-Giedion Syndrome
Leigh Disease	Lesch-Nyhan Syndrome
Leukodystrophy, Globoid Cell	Li-Fraumeni Syndrome
Long QT Syndrome	Lymphoma, Mantle-Cell
Machado-Joseph Disease	Mallory-Weiss Syndrome
Marek Disease	Marfan Syndrome
Meckel Diverticulum	Meige Syndrome
Melkersson-Rosenthal Syndrome	Meniere's Disease
Mikulicz' Disease	Miller Fisher Syndrome
Mobius Syndrome	Moyamoya Disease
Mucocutaneous Lymph Node Syndrome	Mucopolysaccharidosis I
Mucopolysaccharidosis II	Mucopolysaccharidosis III
Mucopolysaccharidosis IV	Mucopolysaccharidosis VI
Mullerian Ducts	Multiple Endocrine Neoplasia Type 1
Munchausen Syndrome by Proxy	Muscular Atrophy, Spinal
Neuroaxonal Dystrophies	Neuromyelitis Optica
Neuronal Ceroid-Lipofuscinoses	Niemann-Pick Diseases
Noonan Syndrome
Optic Atrophies, Hereditary	Osteitis Deformans
Osteochondritis	Osteochondrodysplasias
Osteolysis, Essential
Paget's Disease, Extramammary	Paget's Disease, Mammary
Panniculitis, Nodular Nonsuppurative	Papillon-Lefevre Disease
Paralysis	Pelizaeus-Merzbacher Disease
Pemphigus, Benign Familial	Penile Induration
Pericarditis, Constrictive	Peroxisomal Disorders
Peutz-Jeghers Syndrome	Pick Disease of the Brain
Pierre Robin Syndrome	Pigmentation Disorders
Pityriasis Lichenoides	Polycystic Ovary Syndrome
Polyendocrinopathies, Autoimmune	Prader-Willi Syndrome
Pulmonary Fibrosis	Pupil Disorders
Raynaud Disease	Reiter Syndrome
Rett Syndrome	Reye Syndrome
Rubinstein-Taybi Syndrome
Sandhoff Disease	Sarcoma, Ewing's
Scheuermann's Disease	Shwartzman Phenomenon
Shy-Drager Syndrome	Sjogren's Syndrome
Sjogren-Larsson Syndrome	Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophies of Childhood	Sturge-Weber Syndrome
Sweating, Gustatory	Sweet's Syndrome
Takayasu's Arteritis	Tangier Disease
Tay-Sachs Disease	Thromboangiitis Obliterans
Thyroiditis, Autoimmune	Tietze's Syndrome
Togaviridae Infections	Tolosa-Hunt Syndrome
Tourette Syndrome
Uveomeningoencephalitic Syndrome
Waardenburg's Syndrome	Waldenstrom Macroglobulinemia
Wegener Granulomatosis	Weil Disease
Werner Syndrome	Williams Syndrome
Wilms Tumor	Wiskott-Aldrich Syndrome
Wolff-Parkinson-White Syndrome	Wolfram Syndrome
Wolman Disease
Zellweger Syndrome	Zollinger-Ellison Syndrome
von Willebrand Disease