Herman M. Schippers

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Summary: Growth retardation is one of the clinical characteristics of glycogen storage disease (GSD) type IX. Initial growth retardation has been described in a few case reports, followed by a complete catch-up in growth. This study aimed to determine the growth pattern of patients with GSD IX. Growth charts of 51 male Dutch patients with GSD IX (age 0–33(More)
PURPOSE To determine clinical phenotypes, evolution and genetic background of a large family with a combination of two unusual forms of reflex epilepsies. METHOD Phenotyping was performed in eighteen family members (10 F, 8 M) including standardized EEG recordings with intermittent photic stimulation (IPS). Genetic analyses (linkage scans, Whole Exome(More)
BACKGROUND Brain arteriovenous malformations (BAVMs) are thought to be sporadic developmental vascular lesions, but familial occurrence has been described. We compared the characteristics of patients with familial BAVMs with those of patients with sporadic BAVMs. METHODS We systematically reviewed the literature on patients with familial BAVMs. Three(More)
Reflex seizures are seizures that are elicited by sensory or cognitive stimuli. These stimuli can be very diverse but are usually highly specific within one patient. The type of seizures that are induced by these stimuli can be tonic-clonic seizures, myoclonic jerks with or without absences, and absences with facial myoclonus. Focal seizures can also occur.(More)
We report a case of a girl who presented with typical absence seizures at age of 4.5 years. EEG showed absence seizures of sudden onset with 3 Hz spike-and-waves that also correlated with the clinical absences. The seizure semiology included subtle deviation of the eyes which prompted MRI investigation of the brain. This showed a periventricular nodular(More)
It is generally accepted that renal transplantation as a routine therapy for terminal stage renal patients has various medical advantages over chronic haemodialysis. A comparison of costs of both types of treatment clearly demonstrates a considerable difference also in favour of the former. This comparison is based on patient data from the Leyden University(More)
We present a case of a 10-year-old girl diagnosed with Sydenham's chorea. Despite treatment with haloperidol and valproic acid for 2 weeks and antibiotics for 5 days, her symptoms continued to worsen. She became severely impaired in daily functioning, as she could barely speak or walk, experienced major feeding difficulties and required help with all daily(More)