Autosomal Recessive Parkinson's Disease with Early-Onset in a Turkish Family

Parkinson disease is a progressive, neurodegenerative disease with an increasing incidence of age. It is thought that genetic factors in etiology may be the underlying cause together with environmental factors. Sporadic cases are seen in 85 %, familial forms in 10-15 %, and single gene inheritance in 5 %. In this article, we present a patient with early-onset Parkinson disease who had family history but negative genetic analyses. Genetic mutations of autosomal recessive early-onset parkinsonism are more frequently evaluated in clinical practice and are directed to be analyzed more frequently in a selected group of patients

A Rare Epilepsy Type: Eating Epilepsy

Eating epilepsy is a rare type of reflex epilepsy. Genetic factors, types of food, and eating habits are important. Presently described is case of a 28-year-old man with simple partial and secondary generalized epilepsy, provoked especially by fatty or starchy foods. Neurological examination and laboratory tests were normal. Active epileptiform discharges were not detected on electroencephalography; however, cranial magnetic resonance imaging revealed left parietal encephalomalacia. The patient's seizures were controlled with appropriate dosage of oxcarbazepine and levetiracetam. As this case is extremely rare type of reflex epilepsy, presentation is accompanied by review of the literature

The clinico-radiological spectrum of Dyke-Davidoff-Masson syndrome in adults

Dyke-Davidoff-Masson syndrome (DDMS) is characterized by cerebral hemiatrophy, seizure, contralateral hemiplegia/hemiparesis, and mental retardation. In this study, clinical and radiological investigations of seven patients who were diagnosed with DDMS as adult age were evaluated and discussed. Seven patients (four male, three female) were included. The mean age +/- SD of the patients was 46 +/- 21 years. Clinical presentation of six patients was epileptic seizure. One patient was presented with head trauma due to a fall. Two patients had complex partial seizures, three patients had generalized tonic-clonic seizures (GTC), and one had GTC and myoclonic seizure. Mental retardation was in five patients. A congenital cause was detected in one patient in the etiologic investigation and acquired causes in two patients. In four patients, the etiology was not identified. We observed left-hemisphere involvement in four patients and right-hemisphere involvement in three patients. Brain imaging was performed by CT only in four patients and by MRI only in three patients. All patients were diagnosed with DDMS at adulthood. Atrophy in basal ganglia was detected in five patients, and atrophy in brain stem in four patients. Calvarial thickening was observed in four patients. Three patients had hyperpneumatization in mastoid cells. Sinus hyperpneumatization, including the paranasal and frontal sinuses, was seen in six patients. DDMS can also be diagnosed in adulthood symptomatically (mild-severe) or asymptomatically in adulthood. As a result, DDMS is a syndrome with wide clinical and radiological spectra that can be variably symptomatic at different stages of life

Cerebral Sinus Venous Thrombosis: Evaluation of Nineteen Patients

Objective: Cerebral sinus venous thrombosis (CSVT) is a disease that can be seen in all age groups with various clinical findings and usually a good prognosis. In this study, evaluation of the complaints on admission, the possible risk factors, localization, findings and treatment approaches, and discussion of these findings with comparison to the literature were aimed. Materials and Methods: The demographic, clinical, laboratory and the radiological characteristics of 19 patients with diagnosed with CSVT and followed at the Sakarya University Training and Research Hospital Clinic of Neurology. Results: Nineteen patients (15 female, 4 male) with the diagnosis of CSVT were included. The mean age of the patients was determined as 31.3 +/- 11.2. Headache was determined to be the first symptom on admission in 17 patients. Nauseavomiting (n=10), blurred vision (n=4) and epileptic seizures (n=3) had accompanied headache. Altered state of consciousness (n=2), papilledema (n=4), dysarthria (n=1), and cerebellar disorder (n=1) were determined. Two of the patients were pregnant and 6 patients were in the postpartum period. CSVT due to infection was determined in 2 patients. No reason for etiological investigation was found in 4 of the cases. In 11 patients, more than one etiology were detected. Two patients had been diagnosed with Behcet's disease. MTHFR A1298Cgene heterozygous mutation was most detected. Fourteen patients were determined to have a single sinus venous thrombosis and 5 patients had more than one sinus venous thrombosis on magnetic resonance venography. Six patients had venous infarction. Conclusion: Pregnancy and postpartum period are significant risk factors for CSVT. The association of more than one reason in the etiological investigations of patients despite the presence of one significant risk factor has been emphasized

A Rare Cause of Paresthesia: Hypophosphatemia

Phosphate is a structural molecule for cells and also is used as coenzyme or as seconder messenger. Renal or gastrointestinal loss of phosphate, diabetes mellitus, chronic alcoholism, hyperparathyroidism, sepsis, increased glucocorticoid, diuretics and antacids may cause hypophosphatemia. Muscle weakness, paresthesia, confusion, convulsion, tremor and coma are neurological symptoms of hypophosphatemia. Main clinical signs occur due to deterioration oxygen distribution and reduced intracellular adenosine triphosphate. In the treatment of hypophosphatemia identification of underlying causes is important. In this article, a 26-year-old young male patient with paresthesia that is caused by hypophosphatemia due to D vitamin deficiency is reported. Clinicians must be on the alert about phosphate imbalance which is seen more rare than other electrolytes when investigation of patients with paresis and/or paresthesia

The spectrum of neurological manifestations of Fabry disease in alarge Turkish family with c.[680G > A] p.[R227Q]mutation

Conclusion: The clinical and genetic features of this large Turkish family with FD support an association between the neurological phenotype and the c.[680G> A] p.[R227Q] mutation. Since FD is treatable, it is recommended to perform enzymatic and genetic studies among family members

Serum Prolidase Enzyme Activity Level: Not a Predictive Biomarker for Epilepsy

Conclusion: Our study results suggest that although PEA is an enzyme associated with OS and inflammation, it is still not an ideal biomarker for epileptic patients. This study is important because it investigated PEA in patients with idiopathic epilepsy for the first time

Eurasian J Med 2014; 46: 135-7 Cerebral Fat Embolism Diagnosed by Cognitive Disorder

Fat embolism syndrome is a rarely seen complication of skeletal trauma, and it is seen at a rate of 2-5 % after fractures of the long bones of the lower extremities. Its classic triad-+consists of hypoxemia, petechial bleedings on the skin and neurological findings. These neurological findings are highly variable and non-specific, and they can present with lethargy, irritability, delirium, stupor, convulsion or coma. In this report, a male case is presented who was diagnosed with cerebral embolism due to acute cognitive disorder after a segmental tibial fracture. Key Words: Cerebral fat embolism, tibial fracture, acute cognitive disorder, diffusion-weighted MR