Choroid plexus hyperplasia and chromosome 9p gains.

Choroid plexus hyperplasia leading to communicating hydrocephalus is a rare disorder with only 24 patients reported so far in the literature. Furthermore, genetic information is only available for six of these cases: In one patient the condition was associated with trisomy 9p, in one patient with trisomy 9 mosaicism and in three patients with tetrasomy 9p. Here, we describe four additional patients with choroid plexus hyperplasia leading to various levels of hydrocephalus, and gain of the entire chromosome 9p region: Three with trisomy 9p and one with tetrasomy 9p.

Muscular response to the first three months of deflazacort treatment in boys with Duchenne muscular dystrophy.

Objective: Duchenne muscular dystrophy (DMD) patients are often treated with glucocorticoids; yet their precise molecular action remains unknown.

Methods: We investigated muscle biopsies from nine boys with DMD (aged: 7,6±2,8 yrs.) collected before and after three months of deflazacort treatment and compared them to eight healthy boys (aged: 5,3±2,4 yrs.

[A late debut of childhood disintegrative disorder].

Actualized by the ongoing discussion of whether childhood disintegrative disorder is a diagnostic entity, we describe a case which in every aspect fulfils the ICD-10 criteria. A girl with a previous normal development who, from the age of 60 months, experienced a regression during 2-3 months with significant co-morbid psychiatric symptoms, leaving her in a state of mental retardation and autism. A thorough somatic assessment was normal.

[Phenotypic variability in a family with genetically verified familial hemiplegic migraine type 2].

After playing handball, a 13-year-old girl developed a comatose condition during 7-10 days with hemiparesis and aphasia. From age three to nine she was treated for partial epilepsy. She never had symptoms of migraine.

[Acute haemorrhagic oedema of infancy].

This is a case report of acute haemorrhagic oedema of infancy. An 11-month-old boy with a prolonged relapsing course within three weeks with fever and an increase in CRP necessitating antibiotic treatment. This disease is a leukocytoclastic vasculitis sharing features with Schönlein-Henoch purpura, but with a more benign self-limiting course with minimal risk of organ involvement.

[Congenital hemifacially infiltrating lipomatosis].

Congenital infiltrating lipomatosis of the face is a rare condition with congenital facial asymmetry due to localized overgrowth and accumulation of mature lipocytes. We describe a boy, followed from the age of five months to ten years, with left facial overgrowth, ipsilateral macroglossia, ptosis of the left upper lip, typical asymmetric dental eruption and regional macrodontia in the left upper gumma. The hypertrophic asymmetry was proportionally unaltered with growth.

[Ramsay Hunt syndrome in a 13-year-old boy].

We describe a formerly healthy 13-year-old boy who was admitted with symptoms of epiphora from his left eye over a period of four days and of left-sided peripheral facial palsy for one day. There was no history of trauma or tick bites. Cutaneous vesicles were observed in the ipsilateral ear.

[Mowat-Wilson syndrome: a report of three Danish cases].

Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and urinary tract anomalies. Some cases also present epilepsy, growth retardation and microcephaly. The syndrome is caused by mutations or deletions of the ZEB2 gene at chromosome 2q22-q23.

[Pervasive refusal syndrome in a 12-year-old boy].

We describe a formerly healthy boy aged 12 years with a two-month history of severe coughing and abdominal pain leading to school absence. During admission he became increasingly immobilised and unable to perform activities of daily life, and finally simply adopted the foetal position and needed gastric tube feeding. Gradual restitution was achieved during a 34-month stay as an inpatient at a child psychiatric department.

Reversible magnetic resonance imaging and spectroscopy abnormalities in the course of vigabatrin treatment for West syndrome.

Transient magnetic resonance imaging (MRI) hyperintensity of globus pallidi, thalami, dentate nuclei and cerebral peduncles has recently been described in a significant number of young children during treatment with vigabatrin for infantile spasms. We describe two children with infantile spasms treated with vigabatrin, investigated with consecutive MRI as well as magnetic resonance spectroscopy (MRS). Hyperintensity developed during high dose vigabatrin treatment and remitted totally after dose reduction in one case, and cessation in the other.

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS.

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.

The pyruvate dehydrogenase (PDH) complex is a mitochondrial multienzyme that catalyses the irreversible oxidative decarboxylation of pyruvate to acetyl-CoA. We report four novel PDHA1 mutations in patients with pyruvate dehydrogenase deficiency. Analysis of PDH activity showed decreased activity in fibroblasts from all four patients, around 16-52% of mean control, similar to what has been found in previous studies.

Splenectomy in two children with autoimmune lymphoproliferative syndrome and massive splenomegaly.

Treatment of patients with ALPS has varied but presently there is no consensus about the optimal therapy. Splenectomy is an option but data regarding the postsplenectomy outcome in pediatric ALPS patients remain very limited. We present two children who suffered from anemia and physical discomfort from the large spleen.

[Neurological symptoms and acute hepatitis associated with parvovirus B19].

The spectrum of symptoms correlated to parvovirus B19 infections has expanded greatly during the past years. We report a case of anaemia, encephalitis-like symptoms and acute hepatitis in a 15-months-old Danish girl associated with parvovirus B19, verified by positive serum IgM og IgG antibodies. She presented with non-febrile seizures and decreased level of consciousness.

Van der Knaap's vacuolating leukoencephalopathy: two additional cases.

We present two new cases with infantile-onset megalencephaly and a characteristic magnetic resonance imaging (MRI) pattern including severe white-matter abnormalities and subcortical cysts. In one of the patients MRI at the early age of 9 months showed pronounced white matter swelling. In another patient the swelling of white matter was less pronounced at 12 years of age.

Childhood hypersensitivity pneumonitis probably caused by cat hair.

A case is reported of a 10-y-old boy with hypersensitivity pneumonitis probably caused by his cat. Hypersensitivity pneumonitis caused by animal hairs is reported in furriers, but hypersensitivity pneumonitis in children has only been described as caused by birds, moulds or other fungi. Steroid treatment may interfere with the possibility of finding the causative antigen.

Recrudescence and relapse of meningococcal meningitis and septicaemia.

Three cases of recrudescence and relapse of Neisseria meningitidis group B meningitis and septicaemia are reported. The recrudescence and relapses could not be explained by infectious foci, increased bacterial penicillin resistance or immunological defects. As a supplement to antibiotic treatment, all three patients received corticosteroids for the initial 2 days of treatment, and this may have contributed to the unusual course of the disease in our patient.

[Hereditary protein S deficiency and familial thrombosis. A review with description of a Danish family with protein S deficiency].

Protein S is approximately 69,000 Da polypeptide that acts as a co-factor in conjunction with activated protein C, in the natural anticoagulant system of protein C which irreversibly cleaves activated coagulation factors Va and VIIIa on the cell surface. Although synthesis of protein S takes place in several tissues, the hepatic production of protein S is presumably the most important. It has been established that heterozygous deficiency of protein S may be found in families with increased tendency to thrombosis (thrombophilia).

Combined [99mTc]DMSA kidney scintigraphy and [131I]hippuran renography in children with urinary tract infections.

Combined [99mTc]DMSA kidney scintigraphy and [131I]hippuran renography were performed consecutively in 87 children with recurrent urinary tract infections in a retrospective study. This procedure allows a description of renal cortical morphology, split function determination and run-off evaluation. Signs of cortical scarring were found in 41 of 172 kidneys (24%) and were significantly associated with vesico-ureteral reflux (p less than 0.