A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction.

Introduction: Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare movement disorder characterized by sudden attacks of involuntary movements. Familial PNKD is an autosomal dominant trait, caused by mutations in the myofibrillogenesis regulator 1 (MR-1) gene on chromosome 2q35. Three different mutations have been described; all of them reside in the N-terminal region common to isoforms L and S, that has been suggested to code for a mitochondrial targeting sequence, necessary for the correct sub-cellular localization of the protein into mitochondria.

Etiology, clinical features and outcome of epilepsia partialis continua in cohort of 51 children.

The objective of the study was to evaluate etiology, clinical characteristics and outcome in children with epilepsia partialis continua (EPC). The investigation included 51 children with EPC aged 0.2-18 years treated in the period 1993-2009.

Lower incidence of deletions in the survival of motor neuron gene and the neuronal apoptosis inhibitory protein gene in children with spinal muscular atrophy from Serbia.

Spinal muscular atrophy (SMA) is the second most frequent autosomal recessive disease characterized by degeneration of the anterior horn cells of the spinal cord, leading to muscular atrophy. SMA is classified into three types according to disease severity and age-onset: severe (type I), intermediate (type II) and mild (type III). Deletions in the survival motor neuron (SMN) gene, located in the chromosome region 5q11.

[Aetiological aspects of West Syndrome].

Introduction: West Syndrome involves epileptic encephalopathy in infants, occurring with an incidence of 5/10000 live births. Its main clinical feature are spasms that occur in clusters, which are associated with an EEG pattern called hypsarrhythmia and psychomotor retardation in most patients. West Syndrome is associated with many underlying conditions and the terms idiopathic, cryptogenic, and symptomatic are used for its aetiological subgroups.

High-dose beta-blocker hypertrophic cardiomyopathy therapy in a patient with Friedreich ataxia.

Heart involvement in patients with Friedreich ataxia (FRDA) is a condition marked by inevitable progressive deterioration, with premature death. There is currently no specific treatment for FRDA. Recently, a therapy with idebenone, a short-chain coenzyme Q10 analogue, was reported to reduce left ventricular mass by 20% in about half of FRDA patients, but a double-blind placebo-controlled study did not fully confirm these results.

[West syndrome--new therapeutic approach].

West syndrome (WS) is an age dependent epileptic syndrome caused by various brain disorders. WS has been frequently classified in two groups, cryptogenic and symptomatic. As symptomatic WS consists of patients with numerous types of brain lesions, the prognosis and evolutional changes may be different among the types of brain lesions.

[Schimke immuno-osseous dysplasia].

Schimke immuno-osseous dysplasia (OMIM *242900) is a rare autosomal recessive disorder that affects primarily the bone, the immune system, the kidneys, the skin and the vascular system. The patients have intrauterine growth retardation, short stature with short neck and trunk, peculiar clinical phenotype: triangular face, broad nasal bridge, bulbous nasal tip, small palpebral fissures, long upper lip and low hairline. The characteristic features include spondyloepiphyseal dysplasia, hyperpigmented maculae, proteinuria with progressive renal failure, lymphopenia with recurrent infections and cerebral ischaemia.

[Deletions in the dystrophin gene and its phenotype expression].

About 60% of both Duchenne's muscular dystrophy (DMD) and Becker's muscular dystrophy (BMD) is due to deletions of dystrophin gene. For cases with deletion mutations the "reading frame" hypothesis predicts that deletions which result in disruption of the translation reading frame prevent production of stable protein and are associated with DMD. In contrast, intragenic deletions that involve exons encoding an integral number of triplet codons maintain proper reading frame.

Fulminant subacute sclerosing panencephalitis:two cases with atypical presentation.

From 1972 to 2002, we diagnosed and treated 22 cases of subacute sclerosing panencephalitis. We report on two pediatric patients with fulminant subacute sclerosing panencephalitis who had atypical clinical manifestations. In both patients diagnosis was confirmed by elevated titers of CSF and serum antimeasles antibodies.

Non-Hodgkin's lymphoma of the uterus and CNS.

We report a case of a non-Hodgkin's lymphoma of the uterus and central nervous system in an 8-year-old female. The neurologic signs included blurred vision, neck stiffness, and walking difficulties but no abdominal problems. She deteriorated further, and repeated lumbar punctures revealed the presence of malignant cells in the cerebrospinal fluid.

Pulmonary blastoma presenting as a solitary lip metastasis: case report and review of the literature.

Pulmonary blastoma (PB) is an uncommon primary lung malignancy. This neoplasm was first described by Barrett and Barnard in 1945. The tumor is composed of immature epithelial and mesenchymal tissues which may recapitulate early embryological lung development.

[The Angelman's syndrome].

Distinction of patients with Angelman's syndrome in a group of mentally retarded patients is important even though the syndrome was rarely reported since the original description in 1965. Before that time these patients were thought to suffer from neurologic sequelae of perinatal asphyxia, Lennox-Gastaut syndrome or mental retardation of unknown origin. Diagnosis is based on the following criteria: developmental delay from early age, absent speech (or speech limited to less than six words), jerky movements with an ataxic gait if the patient is walking, paroxysm of inappropriate laughing, dysmorphic craniofacial features (brachycephaly, mid-facial hypoplasia, deep set eyes, macrostomia, prominent mandible).

Tumor debulking followed by immediate combination chemotherapy in advanced ovarian carcinoma. Phase II.

Fifty-one consecutive, previously untreated patients with FIGO stage III or IV epithelial ovarian carcinoma were enrolled in a prospective study over a period of 7 years (1981-1988). Significant improvement has been noted in patients with advanced ovarian cancer following the administration of modified PAC 1 (adriamycin, cytoxan and cyclophosphamide) immediately following primary debulking surgery (within 24 hours) and repeated for 11 monthly cycles. A second look operation was found as an important prognostic indicator.

The new International Federation of Gynecology and Obstetrics surgical staging and survival rates in early endometrial carcinoma.

The medical records of patients with clinical Stage I endometrial adenocarcinoma who were treated at the Maimonides Medical Center between October 1979 and October 1987 were reviewed. There was sufficient surgical-pathologic information to allow a reclassification based on the new International Federation of Gynecology and Obstetrics (FIGO) surgical staging in 93 patients. These are the subjects of analysis.

Lymphvascular space involvement--a prognostic indicator in endometrial adenocarcinoma.

The present study evaluates the effects of various prognostic indicators on survival of patients with clinical Stage I endometrial carcinoma. Ninety-three patients who were treated for clinical Stage I endometrial adenocarcinoma at Maimonides Medical Center from October 1979 to October 1987 had sufficient surgical-pathological information for retrospective surgical staging according to the new FIGO classification. Histology was reviewed.

Concomitant osteitis fibrosa cystica and ameloblastoma of the mandible.

A patient with a multiloculated cystic lesion of the mandible, and clinical as well as biological features of hyperparathyroidism is presented. This association suggesting the diagnosis of brown tumor was actually due to an ameloblastoma of the mandible. Such a concomitant association of an ameloblastoma with symptomatic hyperparathyroidism has never been reported to our knowledge.