Medical summary from outpatient case number
P. I. D, date of birth 15.06.2014
Structural CNS damage. Dysphagia. Syndrome of movement disorders, tetraparesis. Chronic microaspiration syndrome. Secondary asymmetric keeled deformity of the chest.
The boy was born from the first pregnancy (uncomplicated). There was spontaneous delivery; term delivery at gestational age of 38 weeks with mild pain syndrome. Birth weight - 2572 g, body length - 49 cm, head circumference - 34 cm, chest circumference - 33 cm. Amniotic fluid was light. Apgar score 7/8. Boy cried immediately after birth. Stridor and wheezing occurred at delivery room and therefore the child was transferred to the Intensive care unit for newborns (Science Center of obstetrics, gynecology and perinatology named after Kulakov VI). CPAP therapy was initiated (for 2 days). Enteral nutrition was maintained since the first day of life. MRI of the brain revealed MR features of the minimum dilation of the temporal and posterior horns of the lateral ventricles (normal variant of development?), subdural hematoma of left parietal-occipital area, along the cerebellar tentorium (with small volume) without mass effect. Brain MR venography excluded thrombosis of superior sagittal sinus.
Child was consulted by geneticists; study of the karyotype, DNA microarray analysis, tandem mass spectrometry, and full exome sequencing were performed. These studies showed no genetic abnormalities and metabolic disorders.
Anticonvulsant therapy with Convulex was initiated when boy was 5-years old. Anticonvulsant therapy was subsequently withdrawn due to the lack of reported episodes of epileptic seizures and absence of patterns of epileptic seizures during video-EEG monitoring.
Ultrasound study of internal organs revealed no abnormalities.
X-ray studies of the cervical spine revealed instability within the cervicocranial segment, atlanto-axial joint and at the C2-C3 level, as well as dislocation of the odontoid process to the left.
The general condition is stable severe. Tube feeding. Patient needs frequent clearing of upper respiratory tract. Hypersalivation. Mouth is open. Floppy baby syndrome. Brief gaze fixation with no tracking. The cough reflex is immature. There is poor response to examination with periodic moaning.
Muscle tone - dystonia. Child can hold the head shortly in the vertical position. Gothic palate. The skull is sagittally elongated. Motor activity is reduced; increased muscle tone in upper extremities and lower extremities (mostly at the right side). Contractures of the knees with adductor positioning of hips. Tendon reflexes are brisk with expansion of reflexogenic zones. Secondary asymmetric keeled chest deformation.
Point massage of facial muscles, exercise therapy, logopaedic massage, intense polysensory stimulation, taping, swimming, joint exercises, kinesiotherapy, acupuncture. Vojta therapy, supplemental oxygen. rehabilitation equipment (verticalizer, orthoses, chest corset, Frake’s bandage, supports for sitting).