ABSTRACT
Two sisters aged 9 and 7 from consanguineous parents are described. Both of them develop myotonia, muscular weakness as early as the first year after birth. At the age 3-4 a disturbed gait appeared due to knee joint contractures and limited joint movements. The children display facial dysmorphism (a small forehead, a flat base of the nose, a receding chin, an irregular order of the teeth, low-set ears, a high-arched palate, low hair-line), kyphoscoliosis, pigeon breast, severe contractures of the knee and elbow joint and foot deformities. The elder sister cannot walk. Hirsutism of all four limbs is found as well as sparse subcutaneous tissue. Muscles are stiff and firm. Tendon reflexes of the lower limbs are absent. Muscle enzymes show slightly increased values. The EMG needle examination in both sisters was abnormal. Spontaneous, continuous, high-frequency, low-voltage electrical discharges were observed in all distal and proximal muscles of the hands and legs. Some of them have a typical myotonic pattern. The MCV and the SCV was within the normal range. Both parents of our patients, their sister aged 4, as well as their grandparents showed no clinical and EMG abnormalities. All these data allow authors to affirm the diagnosis chondrodystrophic myotonia., described for the first time in Bulgaria.
Subject(s)
Electromyography , Osteochondrodysplasias/genetics , Bulgaria , Child , Child, Preschool , Consanguinity , Female , Humans , Infant , Infant, Newborn , Motor Neurons/physiology , Muscle, Skeletal/innervation , Neural Conduction/physiology , Neurologic Examination , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/physiopathology , Peripheral Nerves/physiopathology , Reaction Time/physiologyABSTRACT
Two sisters aged 9 and 7 from consanguineous parents are described. Both of them develop myotonia, muscular weakness as early as the first year after birth. At the age 3-4 a disturbed gait appeared due to knee joint contractures and limited joint movements. The children display facial dysmorphism (a small forehead, a flat base of the nose, a receding chin, an irregular order of the teeth, low-set ears, a high-arched palate, low hair-line), kyphoscoliosis, pigeon breast, severe contractures of the knee and elbow joint and foot deformities. The elder sister cannot walk. Hirsutism of all four limbs is found as well as sparse subcutaneous tissue. Muscles are stiff and firm. Tendon reflexes of the lower limbs are absent. Muscle enzymes show slightly increased values. The EMG needle examination in both sisters was abnormal. Spontaneous, continuous, high-frequency, low-voltage electrical discharges were observed in all distal and proximal muscles of the hands and legs. Some of them have a typical myotonic pattern. The MCV and the SCV was within the normal range. Both parents of our patients, their sister aged 4, as well as their grandparents showed no clinical and EMG abnormalities. All these data allow authors to affirm the diagnosis chondrodystrophic myotonia.
Subject(s)
Osteochondrodysplasias/genetics , Osteochondrodysplasias/physiopathology , Action Potentials/physiology , Child , Electromyography , Female , Humans , Neural Conduction/physiologyABSTRACT
Visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) were recorded in 57 children and adults with hereditary motor-sensory neuropathy (HMSN); 37 of them were diagnosed as type I (demyelinating) and 20 as type II (axonal). None of the patients presented central nervous system involvement. The results were compared with VEP and BAEP records of 12 adults with Guillain-Barré syndrome (GBS) and 40 healthy controls. Above 30% of all patients with HMSN I showed delayed latency of the VEP. These abnormalities were less expressed in HMSN II. Abnormal BAEP were observed in almost 50% of patients with HMSN I and HMSN II with nearly the same frequency in both types but more pronounced in HMSN I. The most common feature was prolongation of the I-III interpeak latency (JPL). The VEP and BAEP changes could be present simultaneously in the same patient (mainly in HMSN I) or separately. More often the abnormalities were observed in the adult patients. Normal VEP and BAEP values were present in all patients with GBS. The results strongly suggest the subclinical optical and auditory pathways involvement in HMSN patients.
Subject(s)
Evoked Potentials, Auditory, Brain Stem/physiology , Evoked Potentials, Visual/physiology , Hereditary Sensory and Motor Neuropathy/physiopathology , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Optic Nerve/physiopathology , Reaction Time , Vestibulocochlear Nerve/physiopathologyABSTRACT
On the background of a brief literature survey, the effect of renal allotransplants on immune state was studied in 22 recipients during posttransplantation period. Non-specific immune monitoring was used in follow up the cellular immune reactivity to 2 types of cells--atypical mononuclears (ATM) and spontaneous blast-transformed lymphocytes (SBT/Ly). It was established that the appearance and increase of ATM in peripheral blood could serve the prognosis of one crisis in rejecting the allotransplant, and SBT/Ly, is accepted as a sign for concomitant infection or originating in the course of immunosuppressive therapy. The differentiation of those two types of cells is of significance for the early diagnosis of the crises for rejection and aid the proper treatment of the patients with renal allotransplantation.
