Subject(s)
Headache/cerebrospinal fluid , Herpesvirus 6, Human , Lymphocytosis/cerebrospinal fluid , Nervous System Diseases/cerebrospinal fluid , Roseolovirus Infections/cerebrospinal fluid , Adolescent , Female , Headache/complications , Headache/diagnosis , Humans , Lymphocytosis/complications , Lymphocytosis/diagnosis , Nervous System Diseases/complications , Nervous System Diseases/diagnosis , Roseolovirus Infections/complications , Roseolovirus Infections/diagnosis , SyndromeABSTRACT
BACKGROUND: Far from being uniform, Huntington's disease (HD)'s phenotype encompasses a large variety of motor and non-motor symptoms which occur in various combinations in individual patients. AIM: To describe an unusual association between restless legs syndrome (RLS) and HD. METHODS AND RESULTS: We report a patient with an atypical presentation of genetically demonstrated HD, who developed typical RLS a few years prior to and during the course of HD. Common causes of RLS were excluded and the polysomnography confirmed frequent and severe periodic limb movements during sleep and while awake. CONCLUSIONS: We propose RLS as an uncommon but early feature of HD in some patients, and suggest adding HD to the already long list of RLS secondary to neurodegenerative conditions.
Subject(s)
Huntington Disease/complications , Restless Legs Syndrome/complications , Humans , Huntington Disease/diagnosis , Male , Middle Aged , Polysomnography , Restless Legs Syndrome/drug therapyABSTRACT
The clinical expression of dopa-responsive dystonia (DRD) was found to be different in a pair of affected monozygotic twins. An earlier onset was associated with a more disabling course of disease. Whereas monozygosity was genetically proven, the search for pathogenic mutations in the GTP-cyclohydrolase-1 gene was negative. The contribution of environmental factors appeared minimal. Intrafamilial variability of DRD phenotype may be related to yet unknown non-Mendelian epigenetic or proteomic factors.
Subject(s)
Dihydroxyphenylalanine/therapeutic use , Diseases in Twins , Dystonic Disorders/genetics , GTP Cyclohydrolase/deficiency , Twins, Monozygotic , Adult , Benserazide/therapeutic use , Biopterins/cerebrospinal fluid , Biopterins/deficiency , Clubfoot/genetics , Disease Progression , Dopamine Agents/therapeutic use , Dystonic Disorders/cerebrospinal fluid , Dystonic Disorders/drug therapy , Dystonic Disorders/enzymology , Female , GTP Cyclohydrolase/genetics , Humans , Neopterin/cerebrospinal fluid , Neopterin/deficiency , PhenotypeSubject(s)
Brain/pathology , Creutzfeldt-Jakob Syndrome/complications , Creutzfeldt-Jakob Syndrome/pathology , Deglutition Disorders/etiology , Deglutition Disorders/pathology , Dysarthria/etiology , Dysarthria/pathology , Pseudobulbar Palsy/complications , Pseudobulbar Palsy/etiology , Aged , Brain/physiopathology , Creutzfeldt-Jakob Syndrome/physiopathology , Deglutition Disorders/physiopathology , Dysarthria/physiopathology , Female , Humans , Magnetic Resonance Imaging , Pseudobulbar Palsy/pathology , Pseudobulbar Palsy/physiopathologySubject(s)
Adrenal Cortex Hormones/adverse effects , Critical Care , Neuromuscular Blocking Agents/adverse effects , Quadriplegia/chemically induced , Acute Disease , Female , Humans , Middle Aged , Muscle Weakness/chemically induced , Muscle, Skeletal/drug effects , Muscle, Skeletal/physiopathologyABSTRACT
OBJECTIVES: To study the clinical spectrum of an acute severe encephalopathy occurring in 2 patients after recovery from falciparum malaria infection and to compare it with the reported clinical features of the postmalaria neurological syndrome. DESIGN: Case report. SETTING: Tertiary care hospital. PATIENTS: Two patients presented with acute onset of fluctuating motor aphasia, severe generalized myoclonus, and postural tremor. Additional signs were cerebellar ataxia, and in 1 patient, generalized epileptic seizures. Magnetic resonance imaging of the brain revealed patchy white matter lesions in 1 patient. Clinically, the patients' conditions continued to worsen until corticosteroids were introduced, the use of which induced a rapid, albeit incomplete, recovery. CONCLUSIONS: We describe a new, severe variant of the still poorly defined postmalaria neurological syndrome. We propose a preliminary classification of this syndrome, according to its clinical characteristics, as follows: a mild or localized form, characterized by isolated cerebellar ataxia or postural tremor; a diffuse, but relatively mild encephalopathic form, characterized by acute confusion or epileptic seizures; and a severe, corticosteroid-responsive encephalopathy that is characterized by motor aphasia, generalized myoclonus, postural tremor, and cerebellar ataxia.
Subject(s)
Aphasia/etiology , Malaria, Cerebral/complications , Myoclonus/etiology , Tremor/etiology , Adrenal Cortex Hormones/administration & dosage , Adult , Female , Humans , Malaria, Cerebral/drug therapy , Male , Middle Aged , PostureABSTRACT
Three adult siblings had atypical progressive spinal muscular atrophy of the limb-girdle type, predominantly sensory polyneuropathy and cerebellar ataxia. Hexosaminidase A and B activity was profoundly decreased in serum, leukocytes and cultured fibroblasts. GM2-gangliosidosis, variant O (Sandhoff disease) was diagnosed. Mechano-allodynia was the presenting symptom in two of the patients. After 50 years of disease evolution, the patients led an independent life and were intellectually normal. The literature on the adult form of GM2-gangliosidosis is reviewed.
Subject(s)
Sandhoff Disease/diagnosis , Aged , Brain/pathology , Female , Hexosaminidase A , Humans , Magnetic Resonance Imaging , Male , Microscopy, Electron , Middle Aged , Neural Conduction , Sandhoff Disease/enzymology , Skin/ultrastructure , beta-N-Acetylhexosaminidases/bloodABSTRACT
Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of GM2-gangliosidosis, variant O) developed early and severe sensory loss in addition to chronic motor neuron disease and cerebellar ataxia. Prominent mechanoallodynia was a manifesting symptom in two siblings. It is suggested that sensory deficits are due to a central-peripheral dying back axonopathy. The early and dominant sensory disturbances extend the clinical range of GM2-gangliosidosis.
Subject(s)
Sandhoff Disease/complications , Sandhoff Disease/genetics , Sensation Disorders/complications , beta-N-Acetylhexosaminidases/deficiency , Aged , Cerebellar Diseases/complications , Female , Hexosaminidase A , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Motor Neuron Disease/complications , Sandhoff Disease/enzymology , Spinal Cord/pathology , Time FactorsSubject(s)
Blindness/etiology , Porphyrias/complications , Acute Disease , Adult , Blindness/pathology , Blindness/physiopathology , Brain/pathology , Cerebral Arteries/physiopathology , Female , Humans , Magnetic Resonance Imaging , Nitric Oxide/biosynthesis , Porphyrias/metabolism , Porphyrias/pathology , Vasoconstriction/physiologySubject(s)
Alcoholism/complications , Anesthesia, General , Enflurane/adverse effects , Ethanol/adverse effects , Motor Neuron Disease/chemically induced , Propofol/adverse effects , Aged , Female , Follow-Up Studies , Humans , Receptors, Glutamate/drug effects , Receptors, N-Methyl-D-Aspartate/drug effectsABSTRACT
We report on a tourist returning from Thailand, who presented with classical dengue fever. While in Thailand a 36-year-old Swiss female laboratory assistant suddenly developed fever, devastating headache, retro-ocular pain, myalgia and arthralgia, photophobia, nausea and diarrhea. In addition she suffered from epistaxis, urogenital and skin bleeding, and a morbilliform exanthema. After her return to Switzerland we noted lymphadenopathy and splenomegaly, enanthema and laboratory findings of mild hepatitis, thrombocytopenia and leukopenia. The diagnosis of dengue virus infection was verified serologically. Apart from a long lasting convalescent asthenia we observed restitutio ad integrum within days under symptomatic therapy. Epidemiological clinical and diagnostic aspects of dengue virus infection are discussed.