ABSTRACT
OBJECTIVE: To explore the diversity and clinical features of anti-glutamate decarboxylase (GAD) antibody-associated neurological diseases. METHODS: Clinical data of a series of 5 patients positive for anti-GAD antibodies were retrospectively analyzed. RESULTS: All 5 patients were female, with a median age of 41.5 years (range 19-60 years). Their neurological symptoms included stiff-person syndrome (SPS), encephalitis, myelitis, cramp, visual loss, and paresthesia. Three patients (60%) were diagnosed with tumors, 2 cases of thymic tumor and 1 of breast cancer. On immunohistochemistry for tumor pathology, expression of GAD65 was found only in 1 patient. Four patients (80%) had abnormal brain MRI findings. All patients received immunotherapy and improved significantly after treatment, but 4 (80%) then experienced a relapse. CONCLUSIONS: Neurological manifestations in anti-GAD-positive patients are diverse and include SPS, encephalitis, myelitis, cramp, visual loss, and paresthesia.
Subject(s)
Autoantibodies/immunology , Autoimmune Diseases of the Nervous System/physiopathology , Glutamate Decarboxylase/immunology , Paraneoplastic Syndromes, Nervous System/physiopathology , Adult , Autoimmune Diseases of the Nervous System/diagnostic imaging , Autoimmune Diseases of the Nervous System/immunology , Brain/diagnostic imaging , Breast Neoplasms/metabolism , Encephalitis/diagnostic imaging , Encephalitis/immunology , Encephalitis/physiopathology , Female , Glutamate Decarboxylase/metabolism , Humans , Magnetic Resonance Imaging , Middle Aged , Muscle Cramp/immunology , Muscle Cramp/physiopathology , Myelitis/immunology , Myelitis/physiopathology , Paraneoplastic Syndromes, Nervous System/diagnostic imaging , Paraneoplastic Syndromes, Nervous System/immunology , Paresthesia/immunology , Paresthesia/physiopathology , Recurrence , Retrospective Studies , Stiff-Person Syndrome/immunology , Stiff-Person Syndrome/physiopathology , Thymus Neoplasms/metabolism , Vision Disorders/immunology , Vision Disorders/physiopathology , Young AdultABSTRACT
Morvan syndrome is a rare autoimmune disease named after the French physician Augustin Marie Morvan. It is characterized by multiple, irregular contractions of the long muscles, weakness, pruritus, hyperhidrosis, insomnia, and delirium. Here, we describe a 17-year-old young man, previously diagnosed with B-cell lymphoma, who presented with multiple asynchronous fasciculations of the long muscles of his lower extremities accompanied by numbness. The patient responded initially to pulse corticosteroids with diminution of the fasciculations. He achieved complete remission following 7 consecutive, monthly intravenous immunoglobulin injections. The present case is described in the context of the available literature.
Subject(s)
Lymphoma, B-Cell/complications , Muscle, Skeletal/physiopathology , Myokymia/immunology , Myokymia/physiopathology , Adolescent , Autoantibodies/biosynthesis , Autoantibodies/blood , Electrodiagnosis/methods , Fasciculation/immunology , Fasciculation/physiopathology , Humans , Hyperesthesia/immunology , Hyperesthesia/physiopathology , Immunoglobulins, Intravenous/therapeutic use , Lymphoma, B-Cell/diagnosis , Male , Methylprednisolone/therapeutic use , Muscle Cramp/immunology , Muscle Cramp/physiopathology , Muscle, Skeletal/innervation , Myokymia/drug therapy , Neural Conduction/immunology , Peripheral Nerves/immunology , Peripheral Nerves/pathology , Peripheral Nerves/physiopathology , Pulse Therapy, Drug/methods , Sleep Initiation and Maintenance Disorders/immunology , Sleep Initiation and Maintenance Disorders/physiopathology , Treatment OutcomeABSTRACT
A case of interstitial myositis associated with a localised lipoatrophy is reported. The patient is a 24 year old man who presented with severe painful cramps and fasciculations localised to one limb. The rarity of both disorders, and their likely common autoimmune mechanism, suggest that this is not a chance association.
Subject(s)
Fasciculation , Leg , Lipodystrophy , Muscle Cramp , Myositis , Adult , Biopsy , Electromyography , Fasciculation/complications , Fasciculation/diagnosis , Fasciculation/epidemiology , Fasciculation/immunology , Humans , Lipodystrophy/complications , Lipodystrophy/diagnosis , Lipodystrophy/epidemiology , Lipodystrophy/immunology , Male , Muscle Cramp/complications , Muscle Cramp/diagnosis , Muscle Cramp/epidemiology , Muscle Cramp/immunology , Myositis/complications , Myositis/diagnosis , Myositis/epidemiology , Myositis/immunology , Tomography, X-Ray ComputedABSTRACT
Recurrent disseminated intravascular coagulation occurred in 3 women after ingestion of quinine tablets for cramp. All had circulating quinine-dependent antibodies to platelets and in 2 there was initial evidence of antibody consumption, with low titres that rose steeply over the next few days and remained high for many months.