Head circumference measurement of urban children aged between 6 and 12 in Malatya, Turkey.

Head circumference (HC) is one of the most significant findings in physical examination, especially in the evaluation of the development and early diagnosis of neurological disorders in children. In the standard charts for developmental evaluation of Turkish children, there is no HC reference values for children over 6 years of age. Since the HC standards show differences among races and generations, many researchers have obtained normal values for their own populations, and recommend periodic reevaluation of these standards. In this study, the HC of 1826 healthy children (945 male, 881 female) aged between 6 and 12 years was measured in order to establish the Turkish standards. The sample represented various socioeconomic levels in the city of Malatya, Turkey. The study was conducted in ten schools and measurements were done twice by a pediatrician and the mean was recorded. Charts and graphs for boys and girls were prepared separately. Results were compared to the values of other populations. HC values of Turkish children were similar to that of Irish children. The data obtained in this study may replace the Nelhaus criteria to be used in clinics. However, a more widespread study should be carried out by including children from different regions of Turkey.

Tissue inflammatory response in subacute sclerosing panencephalitis (SSPE).

The pattern of inflammatory infiltration was studied in the frontal brain biopsies of 28 cases with subacute sclerosing panencephalitis (SSPE) by immunohistochemistry. Lymphocytic infiltration and gliosis were common pathologic findings. CD4+ T lymphocytes were often observed in perivascular areas and CD8+ lymphocytes in the parenchyma. B lymphocytes were located in large perivascular cuffs associated with longer and slower disease. Major histocompatibility complex antigens, interferon-gamma, and tumor necrosis factor-alpha (TNF-alpha) were expressed in endothelial and glial cells. The inflammatory lesions in subacute sclerosing panencephalitis consist of various cell subtypes and cytokines localized in particular areas of the brain tissue and show certain associations with clinical course.

Apoptosis in brain biopsies of subacute sclerosing panencephalitis patients.

Subacute sclerosing panencephalitis (SSPE) is associated with inflammatory infiltration, neuronal loss, and demyelination. The pathogenesis of these changes is unclear. We examined DNA fragmentation and Bcl-2 expression in brain biopsies of nineteen SSPE patients to investigate the role of apoptosis in tissue damage. DNA fragmentation was present in oligodendroglia, and, in tissues with neuronal loss, in neurons. Reactive astrocytes had no DNA fragmentation, but strong Bcl-2 expression. These results suggest apoptosis as one of the mechanisms for oligodendroglial and neuronal death in SSPE.

Beta-interferon plus inosiplex in the treatment of subacute sclerosing panencephalitis.

We treated seven patients with subacute sclerosing panencephalitis with beta-interferon and oral inosiplex for 2 to 15 months. Stabilization or improvement was observed in three patients. The effect of treatment was equivocal in two other patients who became stable. The disease continued its progression in the remaining two patients who died. Treatment shorter than 2 months was not effective. Changes in electroencephalograms (EEG), magnetic resonance images (MRI), or cerebrospinal fluid measles antibody levels did not have a close correlation with clinical course. These results suggest that beta-interferon might be efficient in some patients with subacute sclerosing panencephalitis and justify its trial in larger studies with longer follow-up.

Correlation of laboratory and clinical findings with the location of Xp21 deletion in Duchenne muscular dystrophy.

Laboratory and clinical features of 28 Duchenne muscular dystrophy patients were evaluated. Positive family history was present in only two cases (7.1%). Dystrophin I-positive fibers were present in 33 percent of the cases with the deletion close to the 5' end of the gene. In the cases with deletion concerning the central part of the gene, all fibers were dystrophin I-negative. In five of the six cases with short stature, the deletion was close to the 5' end of the gene, and short stature was especially seen together with 8th and 13th exon deletion. Statistical analysis concerning the age at which the patient began to have difficulty in standing up and at which he could not walk, did not correlate with the clinical severity and deletion zone, location or extent.

Cranial MR findings in Wilson's disease.

PURPOSE: To define various cranial MR appearances in Wilson's disease (WD). MATERIAL AND METHODS: MR examinations of 30 patients (9-44 years old) with WD were retrospectively reviewed. Six patients were asymptomatic siblings. Three other patients had isolated hepatic involvement, one with no symptoms. The remaining 21 patients had neurological involvement, 7 of whom had the mixed form of the disease. Nine patients had hepatic dysfunction, the 3 with isolated hepatic involvement and 6 of the 7 with the mixed form. RESULTS: All symptomatic patients (n = 23) had abnormal MR examinations, Atrophy was present in the majority of them. The most frequently involved sites were putamen (18/21) and pons (18/21) in patients with neurological abnormality. The putaminal lesions showed a consistent pattern of symmetric, bilateral, concentric-laminar T2 hyperintensity. Putaminal lesions were lacking in only 3 patients with neurological involvement, all of whom were relatively old and had had the disease for a longer duration. Most of the patients with hepatic dysfunction (8/9) had increased T1 signal intensity in the basal ganglia, particularly in the globus pallidus. Pontine involvement always included the dorsal aspect of the pons, however, in some cases the central portion of pons was also affected but ventrolateral longitudinal fibers were spared. Midbrain (16/21), thalamic (10/21) and caudate nucleus lesions (9/21) were also encountered. In a few patients cortical and subcortical white matter lesions were present with a predilection to the frontal lobe, particularly the precentral region. In one patient, a hemorrhagic focus was identified within the white matter lesion. CONCLUSION: On T2-weighted images, WD is suggested by: atrophy; putaminal lesions with a pattern of symmetric, bilateral, concentric-laminar T2 hyperintensity; and the involvement of the pars compacta of the substantia nigra, periaqueductal gray matter, the pontine tegmentum and the thalamus. The hepatic component of WD may cause increased T1 signal intensity in basal ganglia. In the adult age group, the basal ganglia lesions may be different from those in the pediatric group; the putaminal lesions may not be present; the globus pallidus and substantia nigra may show increased hypointensity on T2-weighted images. Cortical and subcortical lesions may also be present with a predilection to the frontal lobe.

Long-term follow-up of patients with subacute sclerosing panencephalitis treated with intraventricular alpha-interferon.

We treated 22 patients with subacute sclerosing panencephalitis (SSPE) with intraventricular alpha-interferon (alpha-IFN) and oral inosiplex between 1986 and 1991. The follow-up for 56 to 108 months demonstrates a higher survival rate in these patients compared with those who did not receive alpha-IFN. However, eight of 11 patients whose condition improved after alpha-IFN treatment and five of five patients whose condition stabilized after alpha-IFN experienced neurologic deterioration 6 to 90 months after treatment; three of 11 and four of five died. The use of inosiplex did not influence the prognosis. Re-administration of the same regimen was not effective in one patient. Treatment-induced remissions in SSPE can be temporary, analogous to spontaneous remissions. Longer treatment with higher doses, or combinations of drugs, may be required.

MRI findings in subacute sclerosing panencephalitis.

Thirty-four MRI studies of 26 patients with subacute sclerosing panencephalitis are reported. Lesions of high signal intensity on T2-weighted images are the most common finding; they frequently involve the periventricular or subcortical white matter. Lesions tend to start in the cortex-subcortical white matter and progress with periventricular white matter involvement and diffuse cerebral atrophy. Pial and parenchymal contrast enhancement, local mass effect of parenchymal lesions, and involvement of the splenic portion of the corpus callosum are not infrequent. Basal ganglia and brainstem lesions were rare in this series. Although cortical and subcortical lesions have some correlation with clinical findings, the extent and location of the periventricular white matter lesions and cerebral atrophy did not reflect the neurologic status in many patients.

Cardiorespiratory function in Duchenne and Becker muscular dystrophy.

The purpose of this study was to investigate the cardiorespiratory function in Duchenne (DMD) and Becker muscular dystrophy (BMO) patients and to determine whether there is a correlation between these functions and muscular strength. The study involved 32 patients with progressive muscular dystrophy (28 DMD and four BMD). The mean age of the patients was 9.6 +/- 3.5 years. Cardiac investigations were performed in all of the patients, and pulmonary function tests were obtained in 16 cases. In five cases (31%), vital capacity (VC) was less than 80 percent of the predicted value. There was a good correlation between VC and muscular strength. There were various cardiologic findings in 50 percent of the cases with DMD. Electrocardiographic changes were present in 43 percent of the patients. Left ventricular systolic function in the patients who could not walk was significantly lower than that of the patients who could walk. There may be some unknown mechanisms that preserve left ventricular function relatively in the normal range in spite of cardiac involvement.

Myasthenia gravis in childhood.

Clinical features, serum acetylcholine receptor antibody (AChRAb) titres and course were reviewed in a series of 25 congenital (CMG) and 30 juvenile (JMG) myasthenia gravis cases to recognize characteristics of childhood-onset myasthenia and its subgroups. The initial symptom for CMG is ptosis accompanied or followed by generalized weakness; myasthenic crises do not occur and spontaneous remissions are rare. In JMG, the distribution of weakness remains the same, but the severity fluctuates: spontaneous remissions (6 patients) and myasthenic crises (10 patients) are observed. Good response to anticholinesterase drugs is slightly more frequent in JMG (62 versus 41%). AChRAbs were present in 9/26 JMG tested, girls with onset after 11 years being more likely to be Ab-positive. Since patients with autoimmune myasthenia and a young age of onset are often seronegative, clinical features such as changing distribution of weakness, fluctuating severity, or response to treatment might be considered as supportive criteria for differentiating JMG from CMG.

Functional significance of dystrophin-positive fibers in Duchenne and Becker muscular dystrophy.

In this study, the ratios of dystrophin-positive (+), partially deficient (+/-), and deficient (-) fibers were investigated immunohistochemically in 28 Duchenne muscular dystrophy (DMD) and 4 Becker muscular dystrophy (BMD) patients using Dys I (midrod), Dys II (COOH-terminal), and Dys III (NH2-terminal) antibodies. In the biopsies of DMD patients, Dys II was negative in all cases; the mean ratio of Dys I (+) fibers was 0.05%, Dys I (+/-) 1.02%, Dys III (+) 0.27%, and Dys III (+/-) 0.75%. There was no correlation between these (+) or (+/-) fibers and the severity of clinical or laboratory findings. In BMD patients, it was shown that amino and carboxyl terminals of dystrophin could be affected in addition to the midportion.

Atypical EEG findings in subacute sclerosing panencephalitis.

A total of 72 EEGs from 57 patients with SSPE were studied. The EEG studies in SSPE revealed periodic high amplitude complexes in all except one. Besides periodic complexes, we found several atypical EEG findings including frontal rhythmic delta activity in intervals between periodic complexes, electrodecremental periods following EEG complexes, diffuse sharp waves and sharp-and-slow-wave complexes over frontal regions, and focal abnormalities, such as sharp wave and sharp and slow wave foci, which have been rarely reported previously. We also described a new finding characterized by high amplitude generalized rhythmic sharp wave activity following periodic complexes in one patient.

Fatal agranulocytosis developed in the course of carbamazepine therapy. A case report and review of the literature.

A case of fatal agranulocytosis in an adolescent who was on carbamazepine therapy is presented. The clinical and laboratory findings suggest that the primary cause of the disorder was neutropenia rather than infection, and the preceding factor for neutropenia was carbamazepine. The timing of occurrence of the hematologic picture, its dependency on dose increments, and the lack of symptoms until infection supervened are consistent with an idiosyncratic-toxic drug reaction (type 2 drug reaction). This is the first reported agranulocytosis case due to crabamazepine in adolescence.

Two siblings with nemaline myopathy presenting with rigid spine syndrome.

Two siblings, ages 20 and 19 presented with more than 10 yr history of spinal rigidity and scoliosis. The parents were first cousins. Muscle biopsies were consistent with nemaline myopathy. This has been the first association between a familial rigid spine syndrome and nemaline myopathy.

The effect of inosiplex in subacute sclerosing panencephalitis: a clinical and laboratory study.

The immunomodulatory action of inosiplex, a drug frequently used in subacute sclerosing panencephalitis (SSPE), varies according to its dose and the subjects' immune status. In order to assess its effect in children and adolescents with SSPE, inosiplex (25-50 mg/kg/day) was given to 9 patients aged 7-17 years. Their clinical and immunologic status was evaluated before and after 2 months' treatment. Lymphocyte mitogenic response decreased in 6 cases. These patients were clinically stable or improving during this period. Changes in cytotoxicity (increased in 5/6 patients) and suppressor cell function (increased in 4/8 and decreased in 4/8) were not significant nor associated with any particular clinical course. Our results suggest that inosiplex at this dose is more likely to suppress lymphocyte proliferation in SSPE and this is not due to advancing disease. Longer follow-up of clinical and laboratory findings seems to be indicated in therapeutic trials in SSPE.

Subacute necrotizing encephalopathy (Leigh syndrome): report of two juvenile cases with fatal outcome.

The clinical and pathological findings of two children diagnosed on autopsy with subacute necrotizing encephalopathy (SNE) are presented. One of the patients was a previously healthy 12-year-old boy with a rapid clinical course and fatal outcome. The second case was a mentally retarded 13-year-old girl with a positive family history of neurological disease and progressive deterioration. Brain edema, bilaterally symmetric gray-brown areas of spongy degeneration and cavity formation were present in the basal ganglia in both cases. A small cavity was noted in the right inferior olive in Case 2. Mamillary bodies were spared in both cases macroscopically and microscopically. Microscopic sections of the involved areas and the periaqueductal region in Case 2 exhibited variable degrees of necrosis, spongiosis with a striking proliferation, and dilatation of the capillaries. Similar changes were noted in the cerebral cortex of Case 1. Microglial and astrocytic proliferation with some loss of myelin were also noted. The neurons, although reduced in number, were frequently preserved within the lesions. To our knowledge, only three patients over two years old have been reported in the literature with an acute clinical course and a fatal outcome. Case 1 is the fourth such case.

A case of Prader Willi syndrome with del 15 (q11-->q13).

Cytogenetic analysis was performed on a four-year-old girl with obesity, mental retardation, recurrent febrile convulsions and a provisional diagnosis of Prader Willi syndrome. High-resolution banding was done to observe the subchromosomal deletion. An interstitial deletion (q11-->q13) on one of the 15th chromosomes was observed in all metaphases.

Cimetidine as an immunomodulator in subacute sclerosing panencephalitis: a double blind, placebo-controlled study.

Cimetidine, an H2 histamine receptor antagonist, was used in subacute sclerosing panencephalitis patients for its immunomodulatory effect. Patients were randomly assigned to cimetidine (n = 7) and placebo (n = 7) groups. Neurologic disability index, lymphocyte functions, cerebrospinal fluid measles antibodies and IgG index were evaluated before and after 2 months of treatment. The neurologic disability index of the cimetidine group remained stable during the study period whereas the placebo group worsened. There were no differences in the immunologic test results, cerebrospinal fluid measles antibody titers and IgG index of the two groups. This study suggests that cimetidine may have a favorable effect on the clinical progression of subacute sclerosing panencephalitis. Further studies are required to investigate its mechanism of action and the associated changes in immune status.