Loose anagen hair syndrome associated with colobomas and dysmorphic features.

Loose anagen hair syndrome is an uncommon congenital disorder. It may occur in association with other syndromes and dysmorphic features. We report a girl who fulfilled the diagnostic criteria for this syndrome as proposed by Tosti (Arch Dermatol 2002, 138: 521-522). She also had several other anomalies including colobomas. We suggest that the combination of features in this patient may constitute a specific syndromic phenotype.

[Congenital hydrocephalus--prevalence and prognosis. Mortality and morbidity in a population-based study]. / Medfødt hydrocephalus--forekomst og prognose. Mortalitet og morbiditet i en populationsbaseret opgørelse.

INTRODUCTION: The aim was to describe the prevalence and to estimate the prognosis of congenital hydrocephalus (HC) in fetuses and children. MATERIAL AND METHODS: Data for the study were taken from the Eurocat Register of Congenital Malformations for the County of Funen and from medical records. The study includes liveborn, intrauterine deaths, and induced abortions. All cases with HC born in the County of Funen in the years 1986-1998 were included. The followup period is three years after birth. RESULTS: The prevalence of HC was 0.4/1,000 births. There were 29 cases of HC, out of which 21 were liveborn. 41% had associated malformations, syndromes and/or chromosome abnormalities, and mortality of these compared to cases with isolated HC were significantly increased (p < 0.05). 18 children had shunt surgery and 12 children had one or more reoperations. At the age of three, four children had died, 12 had neurological problems related to their HC, and five children were described as normal. DISCUSSION: We found high mortality and morbidity in fetuses and children with HC. Mortality was significantly increased if associated malformations, syndromes and/or chromosome abnormalities were present. After prenatal diagnosis of HC it is important to look carefully for other malformations and to perform a karyotype before information about the prognosis of the fetus is given to the parents.

[Dravet syndrome]. / Dravets syndrom.

Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations.

[Dravet syndrome diagnostics]. / Diagnostik af Dravet syndrom.

Dravet syndrome is an epileptic syndrome of infancy. We describe the features of two cases with genetically verified SCNA1 mutations. The diagnosis was established rather late in one case. The epilepsies were medically intractable and the symptoms characteristic of Dravet syndrome. The children received inappropriate medication. Early diagnosis including genetic testing could possibly make the outcome more favourable and reduce the need for other specialized aetiologic investigations.

[LEOPARD syndrome]. / LEOPARD-syndrom.

We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD syndrome. We discuss the clinical characteristics of LS, the need for follow-up and genetic counselling, and the molecular-genetic background as well as the relationship to the allelic disease Noonan syndrome.

[Refractory status epilepticus in two children with lethal rhabdomyolysis]. / Behandlingsrefraktaert status epilepticus med letal rabdomyolyse.

We are reporting two cases of SE with lethal rhabdomyolysis. Both were treated according to the guidelines on antiepileptic drug management by the Danish Paediatric Society, with one and two hours' delay, respectively. Intubation and midazolam infusion were needed to control seizures. After approximately one day both developed severe rhabdomyolysis with progressive DIC and acute renal failure, causing death despite intensive care, including acute hemodialysis. The aim of this case report is to emphasise one of the rare but severe consequences of SE and also to suggest that patients with known repetitive SE may benefit from written individual treatment schedules to avoid wasting time.

[Comorbidity in children with epilepsy. I: Behaviour problems, ADHD and intelligence]. / Komorbiditet hos børn med epilepsi. I: Adfaerdsforstyrrelse, attention deficit and hyperkinetic disorder og intelligens.

A search of the literature of studies on comorbidity in children with idiopathic and cryptogenic epilepsy revealed very few prospective longitudinal studies. The tendency was that children with epilepsy had a greater prevalence of comorbidity than healthy children, but more prospective longitudinal studies are needed to show the exact prevalence, grade and character. Behaviour problems seem to occur before the children have seizures, i.e. the behaviour problem seems to exist before the onset of epileptic seizures. There was no sound evidence for the prevalence of comorbidity in the form of ADHD. Children with epilepsy seem to have normal IQ.

[Comorbidity in children with epilepsy. II: Aetiology]. / Komorbiditet hos børn med epilepsi. II: Aetiologi.

A search of the literature of studies on comorbidity in children with idiopathic and cryptogenic epilepsy and its aetiology revealed few prospective longitudinal studies of evidence class II. There were too few studies on aetiology to determine the causes with certainty, but psychosocial factors seem vital, thus emphasizing the importance of information and support to the child and its family, including siblings. The cognitive and behavioural effect of antiepileptic medicine (other than phenobarbital) seems modest when AED is used monotherapeutically. Likewise, there only seems to be a modest connection between comorbidity and epilepsy-related variables such as age of onset, seizure types, EEG-changes and control of seizures.

[Treatment of infantile spasms]. / Behandling af infantile spasmer.

Infantile spasms (IS) are characterised by neurodevelopmental regression, a unique type of seizures and a hypsarrhythmic EEG pattern. Studies recommend the medical treatment of IS as a positive short-term outcome with respect to the spasms and in the resolution of the hypsarrhythmia. However, the data are insufficient to recommend medical treatment with respect to improving the long-term outcome. The adrenocorticotropic hormone and prednisolone are recommended for treatment of IS, although side effects are common. Vigabatrin is also recommended; IS caused by tuberous sclerosis seems to respond especially well.