Wilson's disease in childhood is generally detected by maintaining a high suspicion of liver disease in patients who have no or nonspecific hepatic symptoms. Kayser-Fleischer ring is rare in childhood. Drug therapy is effective and well tolerated, even in some cases of hepatic insufficiency.

Serological screening is effective. There is a therapeutic benefit for some screening-detected patients, but confirmatory studies are needed.

IntroductionPontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ventral pons. Clinical features are severe developmental delay, microcephaly and dyskinesia.Ninety percent carry a p.A307S mutation in the TSEN54-gene. Our aim was to describe the natural course including neurological and developmental features and other aspects of care in a homogeneous group of PCH2 patients all carrying the p.A307S mutation.Patients and methodsPatients were recruited via the German patients' organizations. Inclusion criteria were imaging findings of PCH2 and a p.A307S mutation. Data were collected using medical reports and patient questionnaires discussed in a standardized telephone interview.ResultsThirty-three patients were included. When considering survival until age 11 years, 53% of children had died Weight, length and head circumference, mostly in the normal range at birth, became abnormal, especially head circumference (-5.58 SD at age 5 yrs). Neurologic symptoms: Choreathetosis was present in 88% (62% with pyramidal signs), 12% had pure spasticity. Epileptic seizures were manifest in 82%, status epilepticus in 39%. Non-epileptic dystonic attacks occurred in 33%. General symptoms: feeding difficulties were recorded in 100%, sleep disorder in 96%, apneas in 67% and recurrent infections in 52%; gastroesophageal reflux disease was diagnosed in 73%, 67% got percutaneous endoscopic gastrostomy and 36% a Nissen-fundoplication. Neurodevelopmental data: All children made progress, but on a low level: such as fixing and following with the eyes was seen in 76%, attempting to grasp objects (76%), moderate head control (73%), social smile (70%), rolling from prone to supine (58%), and sitting without support (9%). Ten percent lost achieved abilities on follow-up. The presence of prenatal symptoms did not correlate with outcome.ConclusionPhenotype of this genetically homogeneous group of PCH2 children was severe with reduced survival, but compatible with some developmental progress. Our data support the hypothesis of an early onset degeneration which thereafter stabilizes.

Objective: The aim of our study was to assess the use of aEEG in our pediatric intensive care unit (PICU), indications for neuromonitoring and its findings, utility for seizure detection, and associations with outcome. Design: We retrospectively analyzed non-neonates who were treated in our PICU and received amplitude-integrated EEG (aEEG). Patients: 27 patients aged between 29 days and 10 0/12 years (median 7.3 months) were included, who received a total of 35 aEEGS. Measurements: aEEG tracings were assessed for background (BG) pattern and its evolution, seizures, and side differences using a visual classification (Hellström-Westas). Clinical data were collected from patients' histories and analyzed for correlation with aEEG findings. Main results: While rare in early years, there was an increase in use over time. Most aEEGs were conducted because of (suspected) seizures or for management of antiepileptic treatment. aEEG had low sensitivity but high specificity for recognition of pathological BG pattern with reference to conventional EEG. Worsening of BG pattern or failure to improve was associated with death. Seizure detection rates by aEEG were higher than by clinical observation, especially for identification of non-convulsive epileptic state (ES). Side differences in aEEG were rare, but if present, they were associated with unilateral brain injury. Conclusions: aEEG is useful for the detection of seizures and ES in pediatric intensive care patients. Abnormal BG pattern and poor evolution of BG are negatively associated with survival. aEEG is a potential supplement to conventional EEG, facilitating long-term surveillance of cerebral function when continuous full-channel EEG is not available. Further investigation is needed.