[Clinical and molecular genetic diagnosis of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation in children].

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a recently described disorder with autosomal recessive model of inheritance. Mutations in the DARS2 gene, which encode mitochondrial aspartyl-tRNA synthetase, have been found. We present 31 cases with characteristic clinical and neuroimaging findings of this disorder. Patients have been stratified into two groups (early and late forms) by age-at-onset and clinical symptoms. The early form was characterized clinically by progressive pyramidal dysfunction, cerebellar and intellectual problems appeared later. Patients with the late form had cerebellar and sensitive ataxia, disturbances of muscle tonus, spastic type, mostly in the low extremities, polyneuropathic and rarely - psychoorganic syndrome. The brain MRI of all patients was characterized by inhomogeneous T2W signal abnormalities in the periventricular and deep white matter and a strikingly selective involvement of certain brainstem and spinal tracts. Most of the patients were compound-heterozygous for common mutations in the DARS2. We found 4 new mutations associated with LBSL. This is the first clinical and molecular-genetic investigation of this rare leukoencephalopathy in Russia.

[Glutaric aciduria type 1: clinical presentations, diagnostics and treatment.].

Glutaric aciduria type I is a rare autosomic recessive neurometabolic disease, which develops in the first year of life and is characterized by progressive extrapyramidal disorders as a result of the basal ganglia damage. We describe first cases of this disease in Russian population. The clinical observations are compared to the literature data. The disease usually develops after infections and features by seizures, vomiting, metabolic acidosis and deprivation of consciousness up to coma. These crises lead to the development of necroses of the basal ganglia that results in dystonias, dyskinesias and choreoatethosis. The secondary complications of the disease are difficulties with feeding, speech delay, chronic aspiration syndrome and severe delay of movement development. Diagnostics of the disease is based on urine and blood tests using methods of tandem mass spectrometry and gas chromatography. Treatment is based on dietary lysine or protein restriction and supplementation with carnitine. The data on the treatment of this disease are presented.

[The radionuclide diagnosis of pathology of the cerebrospinal fluid tract in posttraumatic states]. / Radionuklidnaia diagnostika patologii likvornykh putei pri posttravmaticheskikh sostoianiiakh.

Radionuclide cisternomyelography performed in 324 patients with posttraumatic injuries revealed the abnormality of the brain liquor tracts. The radiological picture of craniocerebral injury sequelae showed a great diversity of radionuclide signs, detected both morphological changes in the liquor tracts, and liquorodynamic disorders. The morphological disorders recorded by radionuclide cisternomyelography appeared as hydrocephalus, porencephalitis, arachnoidal cysts and liquorrheas. The liquorodynamic disorders recorded by this tool manifested themselves as altered liquor circulation and resorption. Radionuclide cisternomyelography provides valid data on the performance of the drainage system during operations on the liquor tracts of the brain and spine.

[Diffuse axonal damages to the brain (the clinical picture, diagnosis and outcome)]. / Diffuznye aksonal'nye povrezhdeniia golovnogo mozga (klinika, diagnostika i iskhody).

On the basis of complex clinical, computed tomographic, catamnestic, and pathomorphological examination of 336 patients with severe cerebrocranial injury the authors substantiate the need to distinguish, along with localized contusions and intracranial hematomas, diffuse axonal injuries of the brain whose biomechanics and pathogenesis are linked with trauma of angular or rotational acceleration-deceleration. The clinical manifestations and the course of diffuse axonal injuries are characterized by protracted coma occurring immediately after the injury with marked disorders of stem functions, postural motor reactions, slow recovery from coma, with the formation of a stable or transitory vegetative state, the development of syndromes of disconnection of the cerebral hemispheres and the brain stem, and severe invalidization of the patients due to mental and neurological deficits.

[Radionuclide diagnosis of pathology of the cerebrospinal fluid system in post-traumatic conditions]. / Radionuklidnaia diagnostika patologii likvornoi sistemy pri posttravmaticheskikh sostoianiiakh.

Radionuclide cisterno-myelography was conducted in 155 patients in the posttraumatic period. Five variants of the radiological picture of liquordynamic disorders were distinguished. The signs of open internal hydrocephalus were determined. The authors note the frequency of the liquor path radiological sign--registration of radiopharmaceutical beyond the liquor channels, which points to the presence of nasal or auricular liquorrhea. Various changes of liquor circulation and resorption were revealed in posttraumatic periods. Disorders of resorption were manifested either by its acceleration or by its reduction or by sharp deceleration. Children most frequently had a radiological picture of open internal hydrocephalus. Signs of liquorrhea were a frequent component of a posttraumatic state in children. Different variants of the radiological picture were revealed in adults in the posttraumatic period: diminished draining function of the cerebral submeningeal space with compensatory drainage of the liquor in the form of nasal liquorrhea was a constant finding. Signs of open hydrocephalus were a commonly encountered component of the pathological picture of posttraumatic state in adults.

[Involvement of the subcortical structures in children with cranio-cerebral injuries]. / Porazhenie podkorkovykh struktur mozga u detei pri cherepno-mozgovoi travme.

From experience in the management of 12 cases the authors discuss the clinical picture and pathogenesis of a special form of craniocerebral trauma in children which is characterized by isolated affection of the subcortical ganglia, internal capsule, and the thalamus in the area supplied by the perforating branches of the middle cerebral artery.