Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair.

Background: Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (1p34.2) and patients with this syndrome have been diagnosed with hypoglycorrhachia, mental and developmental delay, microcephaly and seizures.

Phenylketonuria in pediatric neurology practice: a series of 146 cases.

The neurologic manifestations of patients with phenylketonuria treated at different ages are illustrated in this series of 146 cases, including 9 sib pairs. In addition to well-known findings such as mental retardation, autistic features, microcephaly, and tremor, motor retardation was common and responded promptly to dietary treatment. Hypotonia and diminished reflexes were more frequent findings than hypertonia.

Childhood case of progressive multifocal leukoencephalopathy with improved clinical outcome.

A 6-year-old boy who had been in remission from acute lymphoblastic leukemia for 2.5 years presented with seizures, hemiparesis, visual loss, and white- and gray-matter lesions on cranial magnetic resonance imaging. The diagnosis of progressive multifocal leukoencephalopathy was established on the detection of JC virus DNA by polymerase chain reaction in brain tissue.

Bilateral temporal cysts in a case of subacute sclerosing panencephalitis.

Magnetic resonance imaging in subacute sclerosing panencephalitis (SSPE) usually demonstrates changes in white matter signal intensity, cerebral atrophy, or, in early disease, normal findings. We observed bilateral cystic temporal lobe lesions in a patient with early stage SSPE. Other degenerative conditions associated with such lesions were ruled out based on a normal head circumference, the absence of white matter changes, and normal cerebrospinal fluid lactate level.

Viral studies in the cerebrospinal fluid in subacute sclerosing panencephalitis.

Objectives: The pathogenesis of subacute sclerosing panencephalitis (SSPE), and particularly, the cause of measles virus (MV) reactivation following a latent period after primary measles infection is unknown. The hypothesis of other viruses contributing to the pathogenesis of SSPE by affecting the in vivo state of MV was investigated.

Methods: We examined the cerebrospinal fluid of SSPE patients (n=43) for DNA or RNA and antibodies against HSV type 1 and 2, EBV, CMV, VZV, Hepatitis B, Hepatitis C, JC virus, human herpesvirus (HHV)-6, HHV-7, HHV-8, HTLV-1, and HTLV-2.

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.

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.

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.

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.

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%).

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.

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.

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.

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.

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.

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.

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.

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).

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.

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.

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.