ABSTRACT
Biallelic TYMP variants result in the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a juvenile-onset disorder with progressive course and fatal outcome. Milder late-onset (>40 years) form has been rarely described. Gene panel sequencing in a cohort of 60 patients featuring muscle accumulation of mitochondrial DNA (mtDNA) deletions detected TYMP defects in three subjects (5%), two of them with symptom onset in the fifth decade. One of the patients only displayed ptosis and ophthalmoparesis. Biochemical and molecular studies supported the diagnosis. Screening of TYMP is recommended in adult patients with muscle mtDNA instability, even in the absence of cardinal MNGIE features.
ABSTRACT
The aim of the study was to verify whether adult patients with occipital lobe epilepsy (OLE) are at risk for cognitive impairment compared with controls. Twenty patients with OLE and 20 controls, matched as closely as possible to the epilepsy group in terms of gender, age, education, and intelligence, were administered a battery of tests based on visuoperceptive domains. None of the participants was affected by progressive pathologies, received any medication other than antiepileptic drugs, nor had a psychiatric background. We noted a statistically significant difference between patients with OLE and controls in the following tasks: Perceptive Differences Test, and Object Denomination Test, and Famous Faces Test (P<0.05). No difference was noted between symptomatic and nonsymptomatic patients with respect to neuropsychological results (P>0.05). The linear regression analysis performed did not show any statistically significant contribution by clinical variables. Our data confirm that patients with OLE manifest subtle difficulties in processing and mental manipulation of visual spatial data.
Subject(s)
Epilepsies, Partial/complications , Perceptual Disorders/etiology , Visual Perception/physiology , Adult , Cognition Disorders/etiology , Female , Humans , Intelligence , Judgment/physiology , Male , Middle Aged , Neuropsychological Tests , Photic Stimulation/methods , Recognition, Psychology , Regression AnalysisABSTRACT
Focal nodular hyperplasia (FNH) of the liver is a benign disorder that usually occurs in women during their reproductive years. Multiple FNH is very rare. A case of multiple FNH of the liver occurring in a 34-year-old woman is described. FNH diagnosis was confirmed by means of US, CT, MR, scintigraphy and hepatic biopsy. There was no further change in either size or appearance of liver masses in the ensuing 6 years of follow-up.
Subject(s)
Focal Nodular Hyperplasia/diagnosis , Adult , Female , HumansABSTRACT
Multiple chondromatous hamartomas of the lung are extremely rare. We report a case of a 78 year-old man admitted to our service for a neurological syndrome associated with cerebral cancer. Chest-X-ray and computed tomography revealed multiple and bilateral pulmonary nodules. A metastatic carcinoma was initially taken into account but, in the light of natural history of the disease, clinical examination and CT-scan characteristics of the lesions, we formulated the final diagnosis of multiple bilateral chondromatous hamartomas of the lung.
