Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome.

Wolfram syndrome is a rare neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD). A wide spectrum of abnormalities of the central nervous system, urinary tract and endocrine glands is also observed. We report cranial MRI findings in a 32-year-old female patient with Wolfram syndrome. In addition to the classical features, including absence of the normal high signal of the neurohypophysis, atrophy of visual pathways, the brainstem, cerebellum and cerebral cortex, we observed bilateral hyperintensity on proton density- and T2- weighted images related to the optic radiations in the periventricular white matter of the temporal and parieto-occipital lobes, which may reflect gliosis pathologically.

Blink reflex in hyperthyroidism.

Although there are studies regarding the effects of thyroid hormones on some neurologic reflexes, literature lacks knowledge of the effects of thyroid hormones on blink reflex circuits. To understand the behaviour of excess thyroid hormone on this circuit that involves synapses in brainstem, we studied electrically elicited blink reflexes of 7 patients with hyperthyroidism, 8 patients with hyperthyroidism who were under therapy and 14 volunteers as control by electroneuromyograph. Mean values of the latencies and amplitudes of the R1 and R2 responses were not statistically different between groups, while the duration of R2 response and controlateral R2 response were found shorter in patients with hyperthyroidism comparing to the patients under therapy and controls. We have thought that these findings might reflect the inhibitor effect of the excess thyroid hormone on polysynaptic reflex arc of the blink response.

Lower motor neuron disease associated with myelofibrosis.

We present a patient who has signs pointing to the involvement of lower motor neurons and myelofibrosis. To our knowledge, unlike lymphoproliferative disorders, co-occurrence of myelofibrosis and lower motor neuron disease (MND) has not been reported so far. A 64-year-old male patient was admitted to our hospital with the complaint of painful cramps in his neck and forearms. On physical examination marked hepatomegaly and splenomegaly were found. On neurologic examination nasal quality of the voice and slight palatal weakness were detected. There were generalised slight weakness and atrophy in both proximal and distal muscle groups. Fasciculations were observed especially in forearm muscles and it was observed that he had been avoiding head movements because of painful muscle cramps. Deep tendon reflexes were hypoactive. Nerve conduction studies were normal. By needle electromyography, giant motor unit action potentials (amplitudes up to 8 mV), fibrillation potentials, positive sharp waves and fasciculation potentials were detected in all muscles which were investigated. A hypercellular bone marrow (100%) was determined by bone marrow biopsy. In addition to increased production of the myeloid and megakaryocytic lines, abnormal aggregation and grouping of megakaryocytes were seen. Reticular fibers were increased. He had some benefit of dyphenilhydantoin treatment given for the painful cramps in his neck and forearm muscles. Hydroxyurea treatment was started for myelofibrosis. Six months later, his general condition was better, and the painful cramps were completely resolved. No marked deterioration has been detected in neurologic examination and electromyography for 1 year.

Sympathetic skin response in psoriasis and vitiligo.

The sympathetic skin response (SSR) which is considered to be one of the indexes of peripheral autonomic nerve function, especially evaluates sudomotor function of unmyelinated sympathetic fibers. This noninvasive technique has been studied in various neurological disorders particularly in peripheral neuropathies and also in some dermatological disorders associated with nervous system involvement. However, literature lacks sufficient data regarding SSR in immunologically mediated skin disorders. We enrolled patients with vitiligo and psoriasis to determine the possible effects of these disorders on SSR. Examination of SSR was performed in 30 patients with psoriasis and 15 patients with vitiligo as well as in 23 healthy volunteers as controls. Right and left median nerves were stimulated successively and responses were recorded from the palms simultaneously. SSR could be obtained from every subject. The groups were not statistically different for the values of the latency, the amplitude, and the area under the negative component of SSR. Our results indicated that vitiligo and psoriasis did not have any significant effects on SSR.