[Brainstem dysgenesis: functional prognosis and rehabilitative treatment. A series of nine cases].
BACKGROUND
Brainstem dysgenesis is a heterogeneous clinical entity, with low incidence and high clinical variability, which affects structures in the brainstem. Diagnosis is based on the combination of symptoms, neuroimaging and neurophysiological studies.


OBJECTIVE
To determine the common clinical features, functional prognosis and rehabilitative treatment needs in a group of children with brainstem dysgenesis.


METHODS
Observation-based retrospective study of nine patients diagnosed with brainstem dysgenesis monitored in an outpatients department.


RESULTS
The mean age of the patients was 5.5 years. Five presented alterations in the neuroimaging scan and, in the five with a neurophysiological study, the results showed it to be altered. Six presented muscular hypotonia, eight had amimia/hypomimia, six had central hypoacusis and five had gastrostomy. A third of them presented an episode of cardiorespiratory arrest. Delayed psychomotor skills were detected in all cases. Currently five of them are capable of walking autonomously indoors and four of them outdoors. A high percentage of them (77.7%) understand simple orders and are capable of communicating (66.6%).


CONCLUSIONS
Alterations affecting the cranial nerves and muscle tone together with dysphagia are the most common manifestations in our population. The risk of bronchial aspiration and cardiorespiratory arrest is a threat to the lives of these patients. All the children present psychomotor retardation and half of them manage to accomplish autonomous walking. Given the diversity of the disability displayed by these patients, we believe a personalised, integral rehabilitative treatment is needed to obtain an optimal level of functioning. Further studies with wider samples are required to be able to obtain homogeneous groups and to establish the functional prognosis and needs in terms of rehabilitative treatment.
Ainara
A
Alberdi-Otazu
Juan C
JC
Vives-Ortega
Teresa
T
Castelló-Verdú
Esther
E
Toro-Tamargo
Hospitals Vall d'Hebron, 08035 Barcelona, Espana.
Mar
M
Meléndez-Plumed
D000293:Adolescent; D001933:Brain Stem / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009421:Nervous System Malformations / Q000503:physiopathology* / Q000534:rehabilitation*; D011379:Prognosis; D012189:Retrospective Studies