Journal of Neurological Sciences 154 (1998) 205–208 Early-onset multisystem degeneration with central motor, autonomic and optic nerve disturbances: unusual Riley–Day syndrome or new clinical entity? 1 2 * A. Schnitzler , O.W. Witte, E. Kunesch , H.-J. Freund, R. Benecke Department of Neurology, Heinrich-Heine-University, Moorenstr. 5, D-40225 Duesseldorf , Germany Received 25 June 1997; accepted 31 July 1997 Abstract 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.  1998 Elsevier Science B.V. Keywords: Multisystem degeneration; Riley–Day syndrome; Dysautonomia 1. Introduction autonomic nervous system has been noted. The size of dorsal-root ganglia and the number of afferent axons in Familial dysautonomia (Riley–Day syndrome) is a rare nerve roots and peripheral sural nerve may be grossly autosomal recessive inherited disease with complex clini- decreased [3,4]. The number of neurons of the sympathetic cal symptomatology [1,2]. Although the clinical picture superior cervical ganglia are reduced to about 10% of may vary considerably, clinical hallmarks of the disease normal, and those of preganglionic neurons in the inter- are disturbances of the sympathetic and parasympathetic mediolateral grey column of the first thoracic segments to nervous system, such as alacrima and hyposalivation and about 50% of controls [5]. Parasympathetic neurons are sensory disturbances. Most distinctive clinical signs are clearly diminished in the tongue, and cholinergic nerve corneal hypesthesia, postural hypotension, absent deep terminals in peripheral blood vessels are lacking [5]. In tendon reflexes and absent fungiform papillae on the contrast to these severe pathological features in the tongue. Anatomical depletion of the peripheral sensory and peripheral sensory and autonomic nervous system, central nervous system structures are not consistently affected. The incidence of the disease among Ashkenazi Jews is * Corresponding author. Tel.: 149 211 8117893; fax. 149 211 about one in 10–20 000, but only a few cases outside this 8119033; e-mail: schnitz@tauros.neurologie.uni-duesseldorf.de population have been diagnosed as Riley–Day syndrome, 1 Present address: Department of Neurology, University of Rostock, indicating that limitation of this syndrome to Jews could Gelsheimer Str. 20, D-18055 Rostock, Germany. 2 result from a single mutation [6]. Present address: Department of Neurology, University of Rostock, Gelsheimer Str. 20, D-18055 Rostock, Germany. The case presented here meets some clinical diagnostic 0022-510X / 98 / $19.00  1998 Elsevier Science B.V. All rights reserved. PII S0022-510X(97)00230-X