1/7. optic atrophy in familial dysautonomia.We examined three patients with classic findings of familial dysautonomia (Riley-Day syndrome) whose visual impairment was associated with optic atrophy. The presence of an optic atrophy in familial dysautonomia is indicative of central nervous system involvement, at least in these cases. Each of these patients was first noted to have visual impairment after the first decade. The late onset of optic atrophy may partly explain its apparent rarity. Since the life span of patients with familial dysautonomia is increasing, optic atrophy may be more commonly recognized in the future.- - - - - - - - - - ranking = 1keywords = optic atrophy, atrophy, optic (Clic here for more details about this article) |
2/7. Familial neuropathy with dementia, retinitis pigmentosa, and dysautonomia.We studied a 59-year-old woman with dementia, retinitis pigmentosa, sensorimotor neuropathy, and attacks of vomiting associated with blood pressure lability and loss of consciousness. Abnormalities included CT evidence of cerebral atrophy, low IQ, slow central and peripheral nerve conduction velocities, axonal degeneration in sural nerve biopsy, and elevated levels of catecholamines and slow waves in EEG during attacks. Her sister, two brothers, and daughter also had progressive muscle weakness, visual disturbance, and similar vomiting attacks. The hereditary nervous system disorder does not fit any previously described condition.- - - - - - - - - - ranking = 0.0037141871344214keywords = atrophy (Clic here for more details about this article) |
3/7. adult onset autonomic dysfunction coexistent with familial dysautonomia in a consanguineous family.A consanguineous family is described in which autonomic dysfunction developed in the father during adult life while the son had familial dysautonomia at birth. The father's condition is felt to be secondary to olivopontocerebellar atrophy. The concurrence in this family of an adult and a childhood form of dysautonomia may be an expression of the same genetic defect at different stages of development.- - - - - - - - - - ranking = 0.0037141871344214keywords = atrophy (Clic here for more details about this article) |
4/7. Hereditary neuropathy with upper motor-neuron, visual pathway, and autonomic disorders.A 42-year-old man had progressive distal weakness and muscle atrophy, stocking-type sensory loss, upper motor-neuron and visual pathway lesions, and dysautonomia. Electrodiagnostic tests revealed a generalized sensorimotor peripheral neuropathy that largely involved axons. Low recumbent and upright norepinephrine levels implied a peripheral autonomic defect. sural nerve biopsy showed mild abnormalities of medium and small size fibers. The patient's mother and two brothers were also affected. Other causes of peripheral motor, sensory, and autonomic failure were eliminated. This kinship does not fit any generally accepted classification of hereditary neuropathies.- - - - - - - - - - ranking = 0.0037141871344214keywords = atrophy (Clic here for more details about this article) |
5/7. Late-onset hereditary ataxia with global thermoanalgesia and absence of fungiform papillae on the tongue in a Japanese family.Two Japanese male siblings, aged 68 and 59 years, affected by late-onset progressive ataxia distinguished by extensive sensory and mild autonomic disturbances are described. They had global thermoanalgesia, positive Romberg signs, sensorineural deafness, canal paresis and ageusia. Their autonomic disturbances consisted of absence of overflow tears with usual stimuli, dysphagia, blood pressure and vasomotor instability, diarrhoea/constipation, and urinary frequency. Sensory nerve action potentials were completely absent, whereas motor conduction velocity was slightly reduced only in the lower extremities. sural nerve biopsy on the younger brother demonstrated a marked loss of myelinated fibres and a reduction in the number of unmyelinated axons. tongue histology revealed absence of fungiform papillae and taste buds. Autonomic function tests showed widespread but mild sympathetic and parasympathetic failures. Neuro-imaging studies revealed atrophy of the spinal cord, cerebellum, brainstem and corpus callosum, and enlargement of the lateral, third and fourth ventricles. These siblings represent a previously unrecognized variant of late-onset hereditary spinocerebellar degeneration with global thermoanalgesia and absence of fungiform papillae on the tongue.- - - - - - - - - - ranking = 0.0037141871344214keywords = atrophy (Clic here for more details about this article) |
6/7. Optic neuropathy in familial dysautonomia.optic atrophy, which is indicative of a CNS disorder, is a rarely described manifestation of familial dysautonomia (Riley-Day syndrome). As these patients are now living longer, the prevalence of optic neuropathy also may be increasing. We present a man with familial dysautonomia and visual loss resulting from optic atrophy and visual field defect suggestive of chiasmal pathology.- - - - - - - - - - ranking = 0.012863530351686keywords = atrophy, optic (Clic here for more details about this article) |
7/7. Early-onset multisystem degeneration with central motor, autonomic and optic nerve disturbances: unusual Riley-Day syndrome or new clinical entity?We report a 21-year-old woman presenting with a slowly progressive tetraparesis, optic nerve atrophy on both sides, and autonomic disturbances since early childhood. The patient has been carefully followed up for 5 years with clinical and ancillary investigations. The results and the time course strongly suggest an underlying degenerative syndrome affecting parts of three major systems: autonomic, motor and visual. Some symptoms resemble familial dysautonomia (FD, Riley-Day syndrome), however, hallmarks of FD, such as absence of fungiform papillae of the tongue, abnormal reaction on intradermal histamine injection, absent tendon reflexes, are missing, and central motor disturbances have not been described in FD. We consider this syndrome a slowly progressive multisystemic degeneration with two unusual hitherto unreported features: the combination of affected systems (autonomic and motor systems, optic nerves), and the early onset.- - - - - - - - - - ranking = 0.02001965538295keywords = atrophy, optic (Clic here for more details about this article) |