Vol 5, No 3 (2015)

Болезнь Фабри (БФ) – X-сцепленное заболевание, обусловленное мутациями в гене, кодирующем лизосомальную гидролазу α-галактозидазу А, при котором происходит прогрессирующее накопление в лизосомах глоботриаозилцерамида и связанных гликосфинголипидов. У пациентов мужского пола с классическим фенотипом болезни заболевание клинически манифестирует в детском или подростковом возрасте и характеризуется несколькими симптомами, в том числе нарушением почечной функции, цереброваскулярными осложнениями, сердечной недостаточностью и в конечном счете преждевременной смертью.

The world medicine has achieved considerable advances over the last years in understanding of causes and pathogenesis as well as in specification of diagnostics criteria and studies of therapeutic approaches at chronic migraine (CM). Meantime this widespread disease is badly recognized by the physicians and diagnosed seldom. In addition, there is no generally accepted document, regulating the treatment of patients with CM, who are peculiar by their express deadaptation due to high frequency of severe attacks of the headache (HA), co-morbid psychic and somatic disorders, frequent abuse of analgetic drugs and low adherence to preventive therapy. The specialists of our country, like in other countries, gained their own unique expertise in management of such patients, who are hard to cure, including by botulinum A toxin – representative of the state-of-the-art generation of the registered drugs with the proven efficiency against CM. The article sets out the Recommendation from the Russian specialists as to management of the patients with CM, approved by the meeting of CM Expert Board (on November 12, 2014, Moscow), including with respect to time of treatment, rules of withdrawal and replacement of drugs and some other features, in compliance with modern world concepts on pathogenesis and treatment of such disease and expertise gained in managing patients
with CM in our country.

Objective of the study: assessment of clinical and electroneuromyographic (ENMG) parameters of distal symmetric polyneuropathy during pregnancy.

Materials and methods. 32 pregnant women with type I diabetes mellitus were examined. Signs of diabetic polyneuropathy (DPNP) were revealed in 87.5 percent (n = 28) of patients. Duration of diabetes in patients with DPNP varied from 1 to 30 years (in average, 11.0 ± 6.4 years). Subjective (NSS scale) and objective assessment (NDS scale) of neuropathy symptoms, as well as the nerve conduction studies of the peroneal, tibial, and sural nerves were performed twice, on the 15–16 and 32–33 weeks of pregnancy.

Results. Increase in subjective and objective symptoms of polyneuropathy along the pregnancy according to NSS and NDS scales (р < 0.05), as well as significant decrease of CMAP and SNAP amplitudes (р < 0.05) in the second half of pregnancy, indicating the progression of the DPNP. The most frequent pathological changes were observed in the peroneal and sural nerves.

Conclusions. Pregnancy has an adverse effect on the course of the DPNP contributing to the axonal damage of peripheral nerves, progression of neurological impairment and aggravation of subjective neuropathic symptoms.

Pompe disease, also known as type II glycogenosis, is a rare autosomal recessive disease. Two main types include early-onset Pompe disease – severe, rapidly progressive multisystem deficency, manifestating on the first year of life, and late-onset Pompe disease (LOPD), with the age of onset ranging from the first year till late adulthood. Both types are caused by the deficiency of lysosomal acid-α-glucosidase due to the mutations in GAA gene, leading to an excessive storage of glycogen in body cells. LOPD is a slowly progressive disease with a primary lesion of a skeletal, respiratory and cardiac muscles, affected in different grade, and moderately elevated сreatine kinase. It is often difficult to perform differential diagnosis with a large group of hereditary and non-hereditary myopathies. We present a case report of LOPD with signs of limb-girdle muscular dystrophy.