[A new framework for cerebral palsy]. / Un nouveau cadre conceptuel pour l'infirmité motrice cérébrale.

Cerebral palsy was recently redefined as a group of disorders of the development of movement and posture, causing activity limitation, that are attributed to non-progressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication or behaviour, by epilepsy or by secondary musculoskeletal problems (Bax et al. 2005). It has an estimated incidence of 0.2 %, i.e., 200 new cases per year in Belgium and a total of about 18,000 patients (in a population of 10 millions). Over the last few years, interest has risen in issues pertaining to learning, social participation, services, some assessment modalities (including gait analysis), some therapeutic modalities (including orthotics and antispastic treatment). The Department of Neurology of the H6pital Universitaire des Enfants Reine Fabiola has taken an active part in several aspects of these developments, including research on pathophysiology, neurophysiology, motor control and management (including intrathecal baclofen) as well as setting up the Interuniversity Reference Centre for Cerebral Palsy ULB-VUB-ULg. The 20th anniversary of the hospital offers an opportunity to review this important topic.

Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.

A boy presented at 5 weeks with a syndrome of pre- and postnatal growth retardation, microcephaly, muscular hypotonia, and facial anomalies resembling those seen in Seckel syndrome or microcephalic primordial dwarfism I. Analysis of prometaphase chromosomes, fluorescent in situ hybridization (FISH), and molecular studies showed the presence of a de novo chromosome 2 deletion that could be defined as del(2)(q33.3q34)pat. Parental chromosomes were normal, except for the presence of a paternal supernumerary marker identified by FISH as der(15). On follow-up of the patient during the next months length development appeared normal and the diagnosis of Seckel syndrome was withdrawn. Clinical findings of previously published cases with interstitial deletion of at least 2q33.3-q34, the deletion present in the propositus, are reviewed and include pre- and postnatal growth retardation, psychomotor retardation, microcephaly, micrognathia, and abnormal/low-set ears; findings also present in the propositus. These findings resemble those described in the Seckel syndrome. Noteworthy is the finding that 2/3 of the 60 reviewed cases originally reported as having Seckel syndrome apparently belong to a heterogeneous group of low birth weight microcephalic dwarfism I yet to be clearly defined. In these patients no chromosome 2q deletion has been reported so far. Retrospective analysis could show if a subgroup of these patients carry submicroscopic deletions at 2q33.3-q34. Alternatively, molecular analysis of this region may be warranted in newly diagnosed patients with Seckel syndrome-like manifestations.

Diagnosis of severe birth asphyxia and early prediction of neonatal neurological outcome in term asphyxiated newborns.

Ten indicators available during the first two hours of life, such as clinical criteria of neonatal distress and postnatal arterial blood gases, were compared with the neonatal neurological course in sixty full term newborns with significant birth asphyxia in order to test their value for the diagnosis and the short-term prognosis of severe birth asphyxia. Birth asphyxia was defined as severe when it was followed by symptoms of moderate or severe post-asphyxial encephalopathy. We calculated a sensitivity lower than fifty percent for clinical criteria such as delay in establishing regular respiration and Apgar scores. It was clear that normal delay in establishing regular respiration and normal Apgar scores do not exclude severe birth asphyxia. Arterial pH and base deficit at thirty minutes of life were found to be the best criteria for the diagnosis of severe birth asphyxia, but lacked positive predictive value. The best predictive tool for the short-term neurological prognosis of birth asphyxia was a single score established at 30 minutes of life and based on the evaluation of consciousness, respiration and neonatal reflexes. Some aspects of the pathophysiology of birth asphyxia and the rationale for treatment of post-asphyxial metabolic acidosis are discussed.

Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome.

Two unrelated children presented with similar clinical features (facial dysmorphism and multiple joint dislocations) suggesting the diagnosis of Larsen syndrome. Both carried an inherited unbalanced translocation resulting in partial trisomy 1q and partial monosomy 6p. Analysis of skin collagen from one of the probands disclosed a decreased alpha 1/alpha 2 chain ratio of collagen type I, increased thermal stability and increased hydroxylation of proline and lysine. The present findings suggest that, as a result of the chromosome rearrangements, both patients have a mutation on a gene involved in collagen production, located either on chromosome 1q or, more probably, on 6p. It is furthermore suggested that other cases of Larsen syndrome are the result of a similar mutation.

Value of brain scanning in pediatric subdural collections.

Piepsz, A., Bormans, J., Segers, A., Noterman, J. and Decostre, P. (Departments of Paediatrics, Radioisotopes and Neurosurgery, University Hospital, Brussels, Belgium). Value of brain scanning in pediatric subdural collections. Acta Paediatr Scand, 64:2, 1965. Eighteen children with subdural collections were submitted to brain scintigraphy. By this method, idopathic and post-traumatic hematomas were detected in 40% of the cases, and subdural effusions in 70% of the cases. No false-negative results were noted in the 3 cases of empyema. Several false-positive images were recorded, most of them following purulent meningitis, without any satisfactory explanation. Neither the technique of scintigraphy used in the department, the dimensions of the skull, the age of hematoma, nor the presence of membranes seemed to affect the accuracy of the method. Compared with the other easily performed examinations (eye fundus, EEG, Echo), scintigraphy still remains important in the diagnosis of subdural collections in children.