Intraventricular interferon and oral inosiplex in the treatment of subacute sclerosing panencephalitis.

We treated 22 patients with subacute sclerosing panencephalitis (SSPE) with intraventricular alpha-interferon (IFN) and inosiplex PO and followed them for 2 to 54 months. Three deaths occurred. Clinical improvement, demonstrated by decreasing scores on the Neurological Disability Index, occurred in 11/22 (50%); five patients became stable, and the progression rate of the disease decreased in three. The remission rate was significantly higher than untreated controls from the same institution. Patients who had a slowly progressive disease responded best to treatment. Serious side effects were rare. We recommend intraventricular IFN, combined with oral inosiplex, in the treatment of SSPE.

Intestinal lymphangiectasia in a patient with Zellweger cerebrohepatorenal syndrome.

Zellweger cerebrohepatorenal syndrome (ZWCHRS) is an autosomal-recessive disease, characterized by the absence or profound deficiency of peroxisomes. We report a case of ZWCHRS with intestinal lymphangiectasia, observed as an autopsy finding. This combination is previously unreported.

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.

Parietal lipoma associated with cortical dysplasia and abnormal vasculature: case report and review of the literature.

We present the case of an unusually located intracranial lipoma in a 17-year-old patient with partial epilepsy who was being controlled with medication. The lipoma was located deep in the left sylvian fissure, in the inferior parietal lobule, associated with cortical dysplasia of the surrounding supramarginal gyrus. Abnormal vasculature was detected adjacent to and within the adipose mass. The findings of the imaging studies that included CT, MR imaging, and MR angiography, are described along with a brief review of the literature.

Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease.

We report three cases of L-2-hydroxyglutaric acidemia and three cases of Canavan disease. The L-2-hydroxyglutaric acidemia cases are the first biochemically proven Turkish cases. Magnetic resonance imaging findings in the cases and similarities between the two diseases are emphasized. Both diseases are characterized by predominant subcortical white-matter involvement and dentate nuclei lesions with variable basal ganglia involvement. Canavan disease differs from L-2-hydroxyglutaric acidemia by the presence of typical brainstem involvement.

Fukuyama type congenital muscular dystrophy in a Turkish child.

Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders which is associated with more or less degrees of cerebral involvement. There are four separate entities within CMD nosology. Among these Fukuyama's CMD (FCMD) is highly prevalent in Japan, whereas the classic form with normal or subnormal intelligence, also known as the occidental type, covers the vast majority of cases in the West. We report a case of FCMD seen in a Turkish child.

Sandhoff disease in the Turkish population.

Eighteen cases affected by Sandhoff disease were investigated by an enzymatic study of serum and leukocytes during the period 1988-1996, the clinical expression and enzymatic study were reported and discussed. An indirect minimum disease incidence was calculated in the Turkish population. Hexosaminidase activity in serum and leukocytes was severely deficient when measured by synthetic substrate 4-MU-N-acetylglucosaminide using the thermolabile fractionation procedure. Fractionation of hexosaminidase revealed different levels of isoenzymes A and B. Clinically, organomegaly was not found in 11 out of 18 infantile Sandhoff disease patients, while the remaining seven had mild organomegaly. Organomegaly was not found in patients with relatively high % hexosaminidase B activities. These results suggested that patients with different percent heat-stable enzyme activity may have a different type of mutation which is related to the underlying molecular heterogeneity in the Turkish population where 21% of marriages are found to be consanguineous.

Mental retardation with rare fragile site expressed at 2q11.

Several rare autosomal folate sensitive fragile sites were reported in individuals with mental retardation, neurological abnormalities, and multiple congenital malformations. Only three of them: fra(11)(q22.3), fra(X)(q27.3) and fra(X)(q28), are known to be associated with mental retardation and phenotypic abnormalities. A possible association of the other rare fragile sites with idiopathic mental retardation is still being discussed. Here, a girl who has a fragile site at 2q11 with minor congenital anomalies and mental retardation is presented. This case has recalled the question of idiopathic mental retardation that might be the clinical expression of rare FSFS. Fragility was observed at 2q11 with a frequency of 3% in her cells along with a partial endoreduplication at 2 q11-->qter.

Congenital muscular dystrophy (non-Fukuyama type) in Turkey: a clinical and pathological evaluation.

Congenital muscular dystrophy (CMD) is a heterogenous group of disorders. In the majority of cases the intelligence is preserved, which comprises the classic "occidental" (type 1) form. This type appears to be prevalent in the west. We report a five-case series in Turkey, confirming its geographical distribution.

Selective involvement of the quadriceps muscle in congenital muscular dystrophies: an ultrasonographic study.

Muscle ultrasound scanning is a non-invasive and painless technique for evaluating muscle disorders in childhood. We have performed ultrasound scans of the quadriceps muscle in 26 children with various forms of congenital muscular dystrophies. There were 8 patients clearly showing selective involvement within the components of the quadriceps. In all cases showing selective involvement, the rectus femoris was spared and the vastus muscles were the affected group. Our findings support the concept of heterogeneity, often encountered in congenital muscular dystrophies.

Molecular deletion patterns in Turkish Duchenne and Becker muscular dystrophy patients.

The dystrophin gene deletion patterns of Duchenne/Becker dystrophy were investigated in 57 DMD, 7 BMD and 1 DMD-BMD intermediate muscular dystrophy patients. Deletions, analyzed by multiplex amplification of selected exons, were observed in 58% (38 cases) of the patients. It was found that exon 48 was the most frequently affected, while exon 44 was the least frequently affected. The number of deleted exons was variable, but single exon deletions were more frequent (41%) than larger deletions in our population and the great majority of deletions began distal to exon 44. The application of PCR to deletion analysis in D/BMD was found to be very useful in delineating the extent of the deletion in most of the cases (82%). It was seen that the frequency of deletion breakpoints in distal part of the dystrophin gene (exons 42-52) was detected in 64% of our cases. In our group, the frequency of deletion breakpoints in the same area of the dystrophin gene was between that of the French and the Finnish patients. The distribution of deletion breakpoints within the dystrophin gene of the Turkish population seems to have some differences from other populations. Deletion breakpoints were found to be clustered mainly in three separate regions covering introns 44, 45 and 50 within the central region of the dystrophin gene. Intron 44 was mostly 5' breakpoints but it was found not to be involved as 3' breakpoints. The correlation between phenotype and type of deletion agreed with the reading frame theory except for one DMD case.

Cell mediated immunity in patients with subacute sclerosing panencephalitis.

Cell mediated immunity was assessed on the basis of total lymphocytes (TL), total T lymphocytes (TTL) counts, delayed skin test responses and in vitro leucocyte migration inhibition test (LIF) production in 25 patients with SSPE, classified according to the clinical stages of the disease. The patients in stage I of the disease did not show any defect in cellular immunity while the patients in stage II showed decreased TL and TTL counts, more negative skin test responses to PHA, SKSD and PPD, and unresponsiveness to SKSD of LIF production. When the patient group was evaluated as a whole, only the TL counts and the skin test responses against SKSD differed from those in the controls. These results suggest that the defects in cellular immunity demonstrated in the patients with SSPE may be due to SSPE or the measles virus itself rather than to a genetic factor predisposing patients to SSPE.

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.

Hot water epilepsy.

The clinical and EEG features of 10 patients with hot water epilepsy were presented. Eight of the 10 cases were male. The mean age of onset was 4.7 years. In four patients partial and in six cases generalized seizures were seen. Three patients also had non-hot water precipitated seizures. Interictal EEGs showed generalized abnormalities in eight and focal abnormalities in two cases. CT was performed and found normal in two patients. Anticonvulsant therapy was instituted for all patients. In six cases with adequate follow-up, complete remission was obtained in four and the frequency of the seizures was decreased in two, with anticonvulsant therapy.

Tremor of tongue and dysarthria as the sole manifestation of Wilson's disease.

Neurological form of Wilson's disease in children usually manifests with dystonia as the initial sign. Tremor of extremities, dysarthria and ataxia may follow. Copper deposits in gray and white matter along with the basal ganglia. A pediatric case presenting with tremor of the tongue and dysarthria as the only findings of Wilson's disease is reported. Tongue tremor should also be taken into notice within the basal ganglia symptomatology.

Neurologic complications in chronic renal failure: a retrospective study.

We have retrospectively examined 324 patients with chronic renal failure and evaluated the probable underlying causes of neurologic complications, laboratory data and therapeutic interventions. The common neurologic problems in our patients were alterations in consciousness (40.7%) and convulsions (35.1%). When BUN concentration was above 135 mg/dl and creatinine clearance was below 8 m/min/1.73 m2, alteration of consciousness was observed and when BUN concentration was 200 mg/dl and creatinine clearance was below 7 m/min/1.73 m2, abnormal convulsives appeared. Changes in deep tendon reflexes and pathologic reflexes were associated with hypertension. All of the patients with cortical atrophy using computerized cranial tomography aluminum hydroxide at least for 18 months, and six of them had hemodialysis. Fourteen patients who underwent dialysis developed convulsions and were thought to have disequilibrium syndrome. These findings are consistent with the suggestion that the metabolic and biochemical derangements associated with CRF may be particularly detrimental to the still developing CNS of the child.

Neuronal migration disorders. Part I: Terminology, classification, pathophysiology, EEG and epilepsy.

Intractable epilepsies and partial epilepsies, which make up a great majority of epileptic disorders, are not better recognized and their etiologies unveiled with the help of the new imaging techniques. The development of magnetic resonance imaging (MRI) permits the accurate diagnosis while the patients are alive of the neuronal migration disorders (NMD), which constitute an important group of intractable epilepsies. Previously, NMD cases were described by neuropathologists from autopsy materials, and many of these developmental disorders were not considered compatible with prolonged survival. Cerebral malformations due to neuronal migration anomalies are described in association with motor and mental retardation, learning disabilities, microcephaly, dysmorphic features and epilepsy. Neuronal migration takes place in all parts of the central nervous system (CNS) during the shaping process of the CNS; it actually includes both the central and peripheral nervous systems. However, in common usage the meaning of "neuronal migration disorders" is restricted to the neocortex.

Neuronal migration disorders. Part II: Magnetic resonance imaging.

With the widespread use of magnetic resonance imaging (MRI), neuronal migration disorders (NMD), including lissencephaly, pachygyria, polymicrogyria, schizencephaly, unilateral hemimegalencephaly and gray matter heterotopia, are more frequently and easily diagnosed. When NMD is a diagnostic consideration, MRI should be the imaging method of choice with the high contrast between gray and white matter it provides and its high resolution multiplanar display of anatomy. Magnetic resonance imaging displays the size, configuration and distribution of cortical gyri and cortical thickness for the evaluation of possible lissencephaly, pachygyri and polymicrogyri. It will successfully demonstrate deposits of gray matter in abnormal locations when gray matter heterotopias are present. With its multiplanar imaging capability, MRI will demonstrate the cleft extending from the pial surface to the ventricular ependyma whether the lips of the cleft are fused or separate, thus providing the diagnosis of schizencephaly.

Arylsulfatase A pseudodeficiency incidence in Turkey.

Pseudodeficiency (Pd) in arylsulfatase A (ASA) is a relatively frequent condition in healthy individuals. It produces a reduction in enzyme activity similar to that found in metachromatic leukodystrophy (MLD). A variable incidence of the Pd allele was found in different populations; it was 10-20 times higher than that of metachromatic leukodystrophy. Twelve of the 52 unrelated, healthy individuals were found to be heterozygous for the ASA Pd allele. In Turkey we estimated the incidence of the Pd allele as 11.5 percent. Out of 18 cases with MLD, one patient was found homozygous for the Pd allele and the other patient was found heterozygous.

Moyamoya disease and alternating hemiplegia. A report of two cases.

Moyamoya disease is one of the cerebrovascular disorders and is characterized by bilateral stenosis or occlusion of the distal internal carotid arteries and their main branches. Repeated ischemic episodes in children and intracranial hemorrhage in adults with moyamoya disease is usually noted. In this report, we describe two children with moyamoya disease who presented with alternating hemiplegia. The final diagnosis was made by cerebral angiography and cranial computed tomography in these patients. Other neurological and radiological features of the patients were described.