Correlation between clinical manifestations and magentic resonance imaging [MRI] in ecyption children with phenylketonuria [PKU]

Phenylketonuria is the most common of all amino acidopathies. It is caused by blok in the conversion of phenylalanine into tyrosine due to defect in either the enzyme phenylalanine hyproxylase [98% of subjects] or in metabolism of the cofactor tertahydrobiopterin [2% of subjects]. The present work-was conducted to study the correlation between clinical and brain MRI finding in 28 patients with PKU, 17 [6031] males and 11[39.29%] females whose age ranged from 2.5 years to 16 years. All patient of the present work were subjected to full history taking clinical examination, IQ. assessment using Stanford Binet test determination of serum PHE level, and brain MRI study Consanguinity [82.14%] and similar condition in the family [71.43%] are commonly present in presents with PKU. Development delay was found in 100% of cases, while mental retardation was found in 96.42% of cases, also HD was present in 42.85% of cases and epilepsy was represented in 17.85% of cases. All patients [100%] were presented with skin and hair hypopigmentation to a variable extent, while blue eyes were found in 7.14% of cases, however eczematous skin rash was not present at all. Neurological evaluation revealed that, 25% of cases were presented with quadriparesis, 3.57% with left intention tremors without other manifestations of cerebellar affection According to IQ, 3.57% had normal mentality, 32.14% had mild MR and 64.2% had moderate MR. The serum levels of phenylalanine revealed that all cases had high serum PHE level, it was ranged from 5.6 mg/dl to 29.7 mg/dl with mean level 18 mg/dl. A positive correlation between age of the patients and serum PHE level was commonly found in patients with PKU. Abnormal brain MRI finding were present in 71.42% of cases in the form of perivcntricular dysmyelination without cerebellar abnormalities-A significant relation between brain MRI findings dysmyelination, and the type of the clinical groups, every individual symptom and the serum PHE level was not found

Intellectual impairment among epileptic children correlation with age of onset and duration of epilepsy

Intellectual impairment among epileptic children has been a subject of study throughout the modern era of epileptology. Early age of onset and long duration of epilepsy have been implicated as possible contributors. To test for this hyposis, 45 epileptic children and 20 normal controls of the same age group [6-16 years] were studied using Wechsler Intelligence Scale for Children Revised [WISC-R]. Correlations between intellectual impairment and age of onset and duration of epilepsy were done. The results showed that epileptic children have significantly lower IQ than controls. Moreover, those with earlier seizure onset and longer seizure duration have significantly lower IQ. In conclusion, the earlier the age of onset and the longer the duration of epilepsy, the more the intellectual impairment

Cognitive dysfunction in epileptic children in correlation to seizure type, frequency and egg changes

This work was conducted on 46 epileptic children with EEG recording to study the problem of intellectual impairment in epileptic children. The intellectual functions [verbal IQ [VIQ], performance IQ [PIQ] and general IQ [GIQ]] were assessed using Wechsler intelligence scale for children revised [WISC-R]. The results showed a statistical significant difference between patients and controls as regard intellectual functions with higher IQ scores of the control group. There was an insignificant difference between patients with different seizure type, however children with generalized tonic clonic seizures had lower IQ scores than those with absence or complex partial seizures. It was concluded that epileptic seizure itself had a detrimental effect on intellectual functions rather than other risk factors, thus intractable epilepsy strongly deteriorated intellectual functions. Partial versus generalized seizures and normal interictal EEG were good predictor of normal intellectual functions in epileptic children

Intracranial tuberculoma: diagnosis treatment and outcome

Intracranial tuberculomas are conglomerate caseous foci within the substance of the brain that develop from deep-seated tubercles acquired during recent or remote hematogenous dissemination. In this study twenty four patients 10 male and 14 female with intracranial tuberculomas were treated and followed up in the neurosurgery and neurology departments in Al-Azhar University Hospitals and Nasr City Health Insurance Hospital in the period between January 1994 and July 2000. The age of the patients ranged between 6 and 48 year with a mean age of 30.1 year. The data were analyzed for presenting symptoms, its duration, physical findings, investigations and treatment. Half of the patients had past history of pulmonary tuberculosis. Fourteen patients had surgical excision. Four patients had stereotactic biopsy. Six patients had medical antituberculous treatment without excision or biopsy but one of these patients had ventriculo-peritoneal, shunt to treat the associated hydrocephalus all the patients were followed up every 6 months for a period ranged between 6-30 months with a mean period of 23.5 months. Thirteen out of the 24 patients showed improvement of their disability score on the 1st follow up after 6 months while the other 11 has the same disability score. Five out of these 11 patients showed improvement on the next follow up after 12 months while the other 6 had the same disability level. Three out of the non improved cases did not show improvement of their disability level till the end of the study, while the other 3 had improved disability level after 18 months for the 1st 2 cases and after 24 months for the 3rd patient. Ten out of the 14 patients who had craniotomy or craniectomy and tuberculoma excisions reached to disability level 0 while 2 had partial improvement and the last 2 had the same disability level as before management. Four of our patients had stereotactic biopsy and medical treatment. Three out of them reached to disability level 0 on follow up while 1 patient had partial improvement. patients who had only medical treatment were 6. Three out of them reached to disability level 0 on follow up while 2 patients had partial improvement and the 6th case had the same disability level as before management. The clinical picture of intracranial tuberculoma simulates an intracranial neoplasm, so it becomes necessary for physicians in countries where tuberculosis is common to search for any concomitant evidence of tuberculosis in every case of suspected intracranial tumor. Intracranial tuberculoma could be treated medically unless we are not sure of the diagnosis or if the tuberculoma is associated with mass effect which threatens the life of the patient

Role of transcranial magnetic stimulation [TMS] in prediction of ischemic stroke outcome

There is still controversy about the prognostic value of motor evoked potenials [MEPs] in the assessment of hemiplegia. In order to underst and the role of TMS in studying the integrity of corticospinal tract we have performed such study on Patients with first ever established is-chemic stroke in the domaine of MCA territory, their age ranged from 17-82 years with a mean age of 61.8 + 31.1 years. Functional recovery was assessed by using Sc and inavian Neurological Stroke Score [sss], the Barthed Activities of Dialy Living Index [BI], and the motor score to assess the motor function status of upper and lower limbs. Electrophysiolgical assessment by using TMC to both first dorsal interosseous [FDI] and Tibials anleiror [TA] muscles. These assessments were carried out at the same time in 2 sessions, the first session was within 3 days from the onset of the symptoms and the second was 14 days later. At the first session, MEP was elecited from FDI in the hemiplegic side in 36% and from TA of the same side in 48%. CMCT of these patients was significantly prolonged compare to the healthy side of the same patient. On the second session, there was no significant shortening of the CMCT to FDI and TA. There were inversed correlation between CMCT to TA with sss [r = 0.6]. From this work we conclude that, early performed transcramial magnetic stimulation is a valuable prognostic tool for motor recovery from stroke

Fasting total plasma homocysteine level and cerebrovascular accidents

This study was conducted on 100 stroke patients [15 females and 85 males, aged 45-65 years] in the acute phase within the first 48 hours after admission to ICU as well as 50 age and sex matched apparently healthy individuals as a control group. Every individual was subjected to clinical evaluation including history taking and clinical examination with special stress on presence of risk factors. All the subjects [cases and controls] were not risky i.e. non - smokers, not diabetics, not hypertensive, with negative family history of vascular disease and not taking lipid lowering drugs, multivitamins and antiepileptics known to affect homocysteine blood level. Fasting total plasma homocysteine level [Hcy] was measured using high performance liquid chromatography separation and flourescence detection and plasma folic acid was measured by RIA. Fasting serum glucose, total cholesterol, triglycerides, HDL - c, LDL-c and creatinine were also determined in all subjects. Stroke patients showed a statistically significant increase in total plasma Hcy level [p10.3 micro mol/L, the upper normal level] was present in 81% of patients and 4% of controls. Patients with cerebral infarction [n=:88] did not d sign from patients with intracerebral hemorrhage [n 12] in mean Hcy concentrations [16.2 +/- 7.19 micro mol/L versus15.3 +/- 3.4 micro mol /L]. Plasma folic acid level was non significantly higher in controls than in patients [6.25 +/- 1.1 ng/ml versus 4.43 +/- 0.46 ng/ml]. The patient and control groups did not d significantly in the mean values of fasting serum glucose, creatinine, total cholesterol, HDL-c and LDL-c. However, stroke patients showed a statistically significant increase in serum triglycerides [p< 0.05] when compared with the controls [119.4 +/- 23.84 mg/dl versus 79.13 +/- 15.96 mg/dl]. Total plasma homocysteine level showed a non-significant negative correlation with folic acid and non-significant positive correlation with the other studied parameters. In conclusion, our results support the hypothesis that elevated plasma homocystein level is an independent risk factor for incident stroke