Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In this study, we report 7 Turkish CTX patients who had a delayed diagnosis despite early clinical signs and belonged to 6 unrelated families. METHODS: We have retrospectively evaluated clinical, laboratory, imaging, and genetic findings of CTX patients, which were collected from 2 centers specialized in movement disorders: the Department of Neurology, Faculty of Medicine, Istanbul University, and the Department of Neurology, Faculty of Medicine, Mersin University. RESULTS: All patients were diagnosed with CTX after neurological symptom development, and their mean age at diagnosis was 38.7 ± 9.6 years, despite a mean onset age of 12.4 ± 10.6 years. The mean follow-up period was 28 months (range: 3-60 months). The most common initial clinical abnormalities in our cohort were unexplained chronic diarrhea (42%), febrile convulsion (42%), juvenile cataract (85%), childhood depression and autism (14%), parkinsonism (14%), and intellectual disability (100%). The most prominent neurological findings were the pyramidal-cerebellar syndrome (85%) and extrapyramidal signs (42%). All patients were genetically confirmed. Serum cholestanol levels were elevated in all patients and decreased after chenodeoxycholic acid (CDCA) treatment in 6 patients. CONCLUSION: This cohort is the largest CTX case series in Turkey. All cases showed improvement in gastrointestinal symptoms as a response to CDCA treatment and stabilization on neurological symptoms, i.e., no further progression of neurological abnormalities were noted during this treatment. Therefore, early diagnosis and treatment is crucial in preventing clinical deterioration.

Intensive voice treatment (the Lee Silverman Voice Treatment [LSVT®LOUD]) for individuals with Wilson's disease and adult cerebral palsy: two case reports.

Objective: In this case report, we aimed to examine the effects of an intensive voice treatment (the Lee Silverman Voice Treatment [LSVT®LOUD]) for Wilson's disease (WD), and adult cerebral palsy (CP), and dysarthria.Method: The participants received LSVT®LOUD four times a week for 4 weeks. Acoustic, perceptual (GRBAS) analyses were performed and data from the Voice Handicap Index (VHI) were obtained before and after treatment.Results: Besides the Harmonics-to Noise Ratio (HNR) value (dB) of the participant with WD, for both participants' fundamental frequencies (Hz), jitter (%), and shimmer (%) values showed significant differences (p < .05) after therapy. Both participants showed significant improvements (p < .05) in the duration (s) and the sound pressure level (dB, SPL) of sustained vowel phonation (/a/), in SPL (dB) of pitch range (high and low /a/) and reading and conversation (p < .01). There was a positive improvement in the high-frequency values (Hz) of both participants but not in the low-frequency values (Hz) in the participant with WD. Perceptual analysis with GRBAS judgements of sustained vowel (/a/) and paragraph reading of two participants also showed improvement. After therapy, perceived loudness of the participants' voice increased.Conclusions: The findings provide some preliminary observations that the individuals with WD and the adult individuals with CP can respond positively to intensive speech treatment such as LSVT®LOUD. Further studies are needed to investigate speech treatments specific to WD and adult CP.