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Cerebrotendinous xanthomatosis (CTX) is a rare inherited disorder of the alternative pathway of bile acid biosynthesis, due to mutation(s) of the gene CYP27A1, leading to sterol 27-hydroxylase deficiency. The latter results in a systematic deposition of cholestanol and cholesterol to the central nervous system and tendons, premature cataract, as well as the manifestation of systematic symptoms, such as chronic diarrhea, osteoporosis, and premature atherosclerosis. Due to its marked clinical heterogeneity, prompt diagnosis of this disorder is challenging. We present a case of a 38-year-old male with gait difficulty, a progressive deterioration in ambulation, several episodes of vertigo and episodic diarrhea. Clinical history revealed neonatal jaundice, juvenile bilateral cataracts, borderline intellectual capacity, hypothyroidism, testicular cancer. Magnetic resonance imaging demonstrated increased T2-weighted signal in internal capsules, midbrain, cerebellum, and spinal cord. Electrodiagnostic study showed mixed polyneuropathy. Genetic analysis revealed a novel, biallelic, most likely pathogenic mutation, in gene CYP2A1 (c.1410_1411del). Plasma sterol profiling confirmed the diagnosis of CTX. Our patient was treated with chenodeoxycholic acid and one year later, he shows a progressive improvement of gait, normalization of plasma sterol biochemistry and electrophysiological parameters. This case highlights the importance of maintaining a high index of suspicion as the key to an early diagnosis of CTX, taking into consideration its clinical variability and, if promptly identified, the good response to treatment.

A patient with a known history of hypothyroidism due to Hashimoto's thyroiditis presented with a subacute, progressive sensorimotor deficit that affected the upper limbs predominantly. The electrophysiological findings progressively evolved from multifocal motor conduction block to multifocal demyelinating sensory and motor nerve involvement with conduction block, and finally to findings fulfilling the diagnostic criteria of chronic inflammatory demyelinating polyneuropathy (CIDP). The patient did not respond adequately to intravenous immunoglobulin, whereas oral prednisone led to fast and complete recovery. This report discusses the evolution of early findings of CIDP, as well as its coexistence with Hashimoto's thyroiditis.

Epidemiological data on the incidence of Bell’s palsy (BP) are conflicting. The aim of this retrospective study was to evaluate the variation of cases of BP acutely presented in the emergency room of our department over a 15-year period (January 1990 to December 2004). We examined the monthly and seasonal distribution of BPs among 36,312 patients who came to our emergency services and compared it with the assumed equal distribution of cases over the year (null hypothesis) using χ2 techniques. During the observation period 1,252 of all patients (3.45%) presented due to BP. A decline during the summer was observed, in contrast to a peak documented during the autumn and winter. January and July were the months with the highest and lowest frequency of BP, respectively. Statistical analysis revealed a significantly different seasonal (χ2 = 10.569; d.f. = 3; p = 0.014) and monthly (χ2 = 25.445; d.f. = 11; p = 0.008) pattern of BP cases. The distribution of cases of BP shows a significant variation with a decline during the summer and an increase during the colder period of the year. A similar pattern has been described for reactivated herpetic ocular infections. Since a similar pathogenetic mechanism is regarded as the main cause of BP, the chronobiological aspects and the influence of meteorological factors on the reactivation of latent infections deserves further prospective evaluation.

Rickettsia conorii is endemic in the Mediterranean region. Infections are mostly benign and neurological involvement is unusual. We describe a case of a man who presented with acute facial nerve palsy followed by flaccid tetraparesis due to an electrophysiologically established polyneuritis with distal conduction failure. Elevated IgM antibody titres for R. conorii were documented by indirect immunofluorescent antibody test. After doxycycline therapy, the patient presented a rapid clinical improvement. Repeated electrophysiological examinations revealed significantly restored compound muscles, and sensory action potentials, corresponding to the clinical course after treatment and ex juvantibus, indicate the causative relation between R. conorii infection and the described clinical syndrome.