Clinical neurological and CT brain findings in children with beta-thalassemia major

The aim of this work was to study the effect of beta-thalassemia major on the nervous system in children via computed tomography [CT] of the brain and clinical neurological examination. The study included 32 children with beta-thalassemia major [20 males and 12 females] with ages ranged from 6 -15 years [mean age 9.19 +/- 2.5 years]. They were age-matched with 10 apparently healthy control children [6 males and 4 females] with a mean age of 8.9 +/- 3.14 years. The patients were classified into 3 groups: First group consisted of 8 children [5 males and 3 females] with a mean age of 7.57 +/- 1.49 years. The children in this group were included in the study at the time of first diagnosis to have beta-thalassemia major before receiving any medication, blood transfusion or iron chelation therapy. The second group consisted of 12 children [8 males and 4 females] with a mean age of 9 +/- 2.59 years. They were with a known diagnosis of beta-thalassemia major for at least 3 years. They received repeated blood transfusions and regular iron chelation therapy. The third group included 12 children [7 males and 5females] with a mean age of 10.3 +/- 2.57 years. They had the illness since 5 years or more. They received repeated blood transfusions, but on irregular iron-chelation therapy. The patients and controls were subjected to full history taking thorough general and neurological examination and assessment of sera ferritin levels. CT brain was done for the patients only. The following results were obtained: Patients of the first group showed no neurological abnormalities and 4 cases [50%] of them showed mild central atrophy. In the second group 8 patients [66.66%] showed generalized brisky deep reflexes. The same patients showed moderate central atrophy 8patients [66.66%] showed mild cortical atrophy and one case [8.33%] showed moderate cortical atrophy. In the third group 4 patients [33.33%] showed mental dullness [I.Q. 80, 70, 75, 70], 4 patients [33.33%] showed simple inattention to the surrounding stimuli with decrease of spontaneity and exploring. 4 patients [33.33%] showed bilateral, symmetrical sensory hyperesthesia of the distal parts of the extremities i.e sensory polyneuropathy, one of them was diabetic. CT brain of the third group revealed presence of moderate cortical atrophy in 8 cases [66.66%], mild cortical atrophy in 4 cases [33.33%], and mild central atrophy in 8 cases [66.66%]. The degrees of cortical atrophy and central atrophy were independent in the patients. Serum ferritin level showed high significant increase in patients [mean 955.6 +/- 563.99 ng/ml] in comparison with the control group [181 +/- 35.4 ng/ml]. It was as Follows in the 3 groups of patients respectively: 568.75 +/- 92.3 ng/ml., 861.67 +/- 221.15 ng/ml. and 1631.67 +/- 471.99 ng/ml. i.e., it was highest in the third group. We may suggest that there were 3 factors responsible for the above findings in variable degrees: anaemia which might cause some irreversible neurological changes, hemosiderosis and iron-chelation therapy. Hemosiderosis might be incriminated more than the other factors in the pathogenesis of atrophy of cerebral cortex while the white matter of the brain was atrophied more in patients with regular iron-chelation therapy

Light and electron microscopy of skeletal muscle tissues of patients versus carriers of duchenne muscular dystrophy

The study included 8 male patients [5 - 10 years old]. With Duchenne muscular dystrophy [DMD], their female carriers [20 - 50 years old] and 3 healthy volunteers [2 males and 1 female, 20 - 40 years old]. Carriers were classified into obligate symptomatic [4 carriers], obligate asymptomatic [2 carriers] and possible carriers [2 carriers]. Muscle biopsy was taken from the quadriceps muscle of all the studied persons and prepared for both light and electron microscopy processes. Light and electron microscopy of muscle biopsies revealed marked dystrophic changes in all patients and mild dystrophic changes in 2 obligate symptomatic carriers, while some ultrastructural changes were detected by electron microscopy only in the other 2 obligate symptomatic carriers and one of the 2 obligate asymptomatic carriers. The other obligate asymptomatic carrier and the possible carriers showed no changes by both light and electron microscopy. So, we can conclude that carriers of DMD might show dystrophic changes by both light and electron microscopy. These changes were more frequent in obligate symptomatic carriers. Although, electron microscopy was more accurate than light microscopy in their detection, it could not detect all the carrier state

Serum lipids and lipoproteins in primary brain tumours

The concentration of serum lipids and lipoproteins were measured in 50 healthy control subjects and 54 patients with early diagnosed primary brain tumours [24 benign and 30 malignant]. The study showed a significant increase in the concentration of serum cholesterol, VLDL and triglycerides and a significant decrease in the concentration of HDL. The increase in serum cholesterol was highly significant in males with malignant brain tumours

Toxocariasis in epileptic patients

Ninety nine epileptic patients [66 males and 33 females], with ages ranged from 11 - 40 years and with ages of onset of seizures below 20 years, were chosen from rural areas. They were classified into 2 groups: First group included 84 patients [54 males and 30 females] with epilepsy of unknown cause and negative family history, and second group included 15 patients [12 males and 3 females] with epilepsy due to known cause [other than Toxocara infection] or with positive family history for epilepsy. They were age-matched with 30 healthy controls [20 males and 10 females]. Every patient was subjected to full history taking, thorough general and neurological examination, EEG, stool analysis, serodiagnosis of Toxocara canis infection by IFAT and ELISA after adsorption of sera using Ascaris vitulorum to avoid cross reaction with Ascaris antibodies. The following results were obtained: IFAT revealed that 21.4% of epileptics of first group and 13.3% of those of second group were seropositives for toxocariasis, while ELISA detected seropositivity for toxocariasis in 28.57% of patients of first group and in 20% of those of second group. The seropositive controls were 3.33% by both tests. This means that ELISA was more reliable in the diagnosis of Toxocara than IFAT. Also seropositivity for toxocariasis was more in epileptic patients of unknown cause than those with known causes for epilepsy and both groups were more than the controls. Eosinophilia was present in 44.4% of seropositive epileptic patients. Ages of onset of seizures in seropositive epileptics were 5.5 years +/- 1.4 years in the first group and 6.66 years +/- 0.57 years in the second group. Male patients were more affected than females. The type of seizures in seropositive epileptics of unknown cause and negative family history [first group] was: generalized tonic-clonic. Our findings made us to say that toxocariasis has a role in the etiogenesis of epilepsy in children of risky environment