Classical galactosemia is an autosomal recessive inborn error of metabolism leading to toxic accumulation of galactose and derived metabolites. It presents with acute systemic complications in the newborn. Galactose restriction resolves these symptoms, but long-term complications, such as premature ovarian failure and neurological problems including motor dysfunction, may occur despite adequate treatment. The objective of the current study was to determine the frequency and phenotype of motor problems in adult patients with classical galactosemia. In this cross-sectional study, adult patients with a biochemically confirmed diagnosis of galactosemia attending our clinic were assessed with an interview and neurological examination and their notes retrospectively reviewed. Patients were classified according to the presence/absence of motor dysfunction on examination. Patients with motor dysfunction were further categorized according to the presence/absence of reported motor symptoms. Forty-seven patients were included. Thirty-one patients showed evidence of motor dysfunction including: tremor (23 patients), dystonia (23 patients), cerebellar signs (6 patients), and pyramidal signs (4 patients). Tremor and dystonia were often combined (16 patients). Thirteen patients reported motor symptoms, with 8 describing progressive worsening. Symptomatic treatment was effective in 4 of 5 patients. Nonmotor neurological features (cognitive, psychiatric, and speech disorders) and premature ovarian failure were more frequent in patients with motor dysfunction. Motor dysfunction is a common complication of classical galactosemia, with tremor and dystonia the most frequent findings. Up to one third of patients report motor symptoms and may benefit from appropriate treatment. Progressive worsening is not uncommon and may suggest ongoing brain damage in a subset of patients.

Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy e.g. spasticity, the type of neuropathy, and the other neurological and nonneurological features of the syndrome. Priority is given to the diagnosis of treatable conditions. Using this approach, we associated neuropathy with one of three major syndromic categories -1) ataxia, 2) spasticity, and 3) global neurodevelopmental impairment. Syndromes that do not fall easily into one of these three categories can be grouped according to the predominant system involved in addition to the neuropathy e.g. cardiomyopathy and neuropathy. We also include a separate category of complex inherited relapsing neuropathy syndromes, some of which may mimic Guillain Barré syndrome, as many will have a metabolic aetiology and be potentially treatable.

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Purpose: To study intracranial cestodal cysts using in vivo proton magnetic resonance spectroscopy ( 1 H MRS) in an effort to identify metabolite(s) that may help in recognizing the parasitic etiology and, perhaps, viability of such tapeworm cysts. Cestodal infestations of the human central nervous system (CNS)-cysticercosis and hydatidosis-are not rare. Identification of a scolex is considered diagnostic of cysticercosis on imaging. In its absence, however, the features are non-specific. Materials and Methods:Three patients with intracranial hydatid cysts and 13 patients with intracranial cysticercal cysts (four intraventricular, seven parenchymal, and two subarachnoid racemose cysts) were studied on a 1.5-T MR system. In vivo 1 H MRS was performed by multivoxel twodimensional hybrid chemical shift imaging technique (TE ϭ 135 msec). In vitro 1 H NMR and mass spectroscopy (matrix assisted laser desorption/ionization [MALDI]) were performed on excised cysticercal and hydatid cyst fluid. MALDI spectra for pyruvate and succinate were also obtained.Results: Alanine, pyruvate, and acetate were seen in all the three hydatid cysts. Lactate was seen in racemose cysticercal cysts. A large resonance at 2.4 ppm, confirmed as pyruvate at mass spectroscopy, was seen in 13 cestodal cysts. Pyruvate was not seen in one each of racemose, intraventricular, and parenchymal cysticercal cysts. Conclusion:Pyruvate is the predominant metabolite in cestodal cysts infesting the human CNS. It may be a marker of parasitic etiology and perhaps that of viability of such intracranial cysts.

White matter (WM) abnormalities are frequently seen on brain MRI of HIV positive (HIV + ) patients. We aimed to determine the prevalence of unexplained WM abnormalities and their associations with HIV disease and cardiovascular risk factors. We conducted a retrospective, cross-sectional study of brain MRI of HIV + patients conducted between 2004 and 2009 at our center. Clinical and laboratory data were compiled, and images were independently reviewed for WM lesions. Images were obtained from 254 patients: 70% male, 53% white, 40% black, mean age 42 years, median current CD4 count 240 cells/mm 3 , and 41% not taking antiretroviral therapy (ART). Hyperintense WM lesions were present in 161 patients (63.4%): 89 scans (35.0%) showed diffuse WM signal abnormality (DWMSA), 61 (24.0%) were consistent with small vessel disease (SVD, graded by Fazekas' scale), and 37 (14.6%) showed large asymmetrical focal WM lesions. SVD changes were associated with age and cardiovascular risk factors, and while cerebral SVD may be related to HIV infection, the MRI findings were not associated with HIV-related factors. The only risk factor for DWMSA was black race, and no correlation with cardiovascular risk factors, CD4 count, or clinical presentation was identified. DWMSA are therefore of uncertain neurological significance in HIV + patients and could represent more than one clinicopathological entity.