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.

Bilateral thalamic lesions: A pictorial review.

Bithalamic lesions are uncommon, however, both focal and systemic disorders may present bilateral abnormalities in the thalamus in different acute and chronic clinical situations. Neuroimaging, in particular magnetic resonance imaging, plays an essential role in diagnostic approach. Imaging features such as signal alterations, diffusion restriction or contrast enhancement are helpful in characterization of these abnormalities. The location of the lesions may provide key information because some pathologies typically involve a certain part of the thalamus. In addition to thalamic findings, neuroimaging findings in other parts of the brain associated with the clinical and laboratory information should be taken into account to make a correct diagnosis.

Mutation analysis of the PARKIN, PINK1, DJ1, and SNCA genes in Turkish early-onset Parkinson's patients and genotype-phenotype correlations.

OBJECTIVE: Variations in PARK genes (PRKN, PINK1, DJ-1, and SNCA) cause early-onset Parkinson's disease (EOPD) in different populations. In the current study, we aimed to evaluate the frequencies of variations in PARK genes and the effects of these variations on the phenotypes of Turkish EOPD patients. METHODS: All coding regions and exon-intron boundaries of the PRKN, PINK1, DJ-1, and SNCA genes were screened by heteroduplex analysis followed by direct sequencing of the detected variants in 50 Turkish EOPD patients. These variants were evaluated using SIFT, PolyPhen, HSF, and LOVD web-based programs. RESULTS: The frequency of EOPD-associated variations in the PRKN gene was 34%. Among these variations, p.A82E in exon 3 and p.Q409X in exon 11 was determined to be pathogenic. We also defined previously unknown cryptic variations, including c.872-35 G>A and c.872-28T>G in exon 8 of PRKN and c.252+30 T>G and c.322+4 A>G in exons 4 and 5 of DJ1, respectively, that were associated with EOPD. Although no significant association was observed between the PARK gene mutations and clinical features (P>0.05), the alterations were related to the clinical symptoms in each patient. CONCLUSION: An increasing number of studies report that PRKN, PINK1, DJ1 and SNCA mutations are associated with early-onset Parkinson's disease; however, a limited number of studies have been conducted in Turkey. Additionally, our study is the first to evaluate the frequency of SNCA mutations in a Turkish population. The aim of this study was determine the frequency distributions of the PRKN, PINK1, DJ1, and SNCA gene mutations and to analyze the relationships between these genetic variations and the clinical phenotype of EOPD in Turkish patients.

Diabetic striatopathy in a patient with hemiballism.

Diabetic striatopathy is a rare and life-threatening manifestation of diabetes mellitus. The disease commonly affects individuals of Asian descent, females, and the elderly. Patients usually present with hemiballism-hemichorea caused by nonketotic hyperglycemia. Hemiballism-hemichorea is defined as involuntary continuous random appearing movement involving one side of the body. This movement disorder may develop secondary to stroke, diabetic striatopathy, neoplasm, infection, Wilson's disease, and thyrotoxicosis. Despite being rare, prompt recognition of a hyperglycemia-induced hemiballism-hemichorea is essential because the symptoms are reversible with correction of hyperglycemia. Diagnosis is possible based on blood analysis and neuroimaging findings. Laboratory tests reveal raised blood glucose and hemoglobin A1C levels which indicate poorly controlled diabetes. Neuroimaging provides suggestive findings of diabetic striatopathy which are hyperattenuation on computed tomography and hyperintensity on T1-weighted magnetic resonance imaging in the basal ganglia. In this case report, our aim is to present neuroimaging findings in an adult man with sudden onset of hemiballism associated with nonketotic hyperglycemia.

Unilateral hand-foot syndrome: an extraordinary side effect of capecitabine.

BACKGROUND: Hand-foot syndrome (HFS), the most common toxicity of capecitabine, is characterized by tingling, numbness, pain, erythema, dryness, rash, swelling, increased pigmentation, and/or pruritus of the palmar and/or plantar surfaces of the hands and/or feet. HFS is usually seen in both the hands and the feet, with varying severity. We have previously published a case report of dihydropyrimidine dehydrogenase (DPD) deficiency that manifested a variant of HFS. CASE REPORT: We report the case of a 65-year-old Turkish Cypriot male patient with advanced gastric cancer who developed pain, numbness, and reddening in his left palm and left sole 10 days after the fourth cycle of capecitabine at a dose of 1,000 mg/m(2)/day twice daily (BID) on days 1 to 14 every 21 days. On physical examination, he had unilaterally erythematous changes and skin scaling on his left sole and palm consistent with grade II HFS. After stopping administration of capecitabine and supportive management, the HFS resolved in a week's time. CONCLUSIONS: To the best of our knowledge, this is the first case of capecitabine-induced unilateral HFS. Further investigation related to this toxicity associated with capecitabine is warranted.