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. The three patients with trisomy 9p were siblings. Normal karyotypes were identified in the lymphocytes of the parents. Likely one of the parents is a mosaic for a cell line with trisomy 9p in the gonads. We demonstrate the importance of correctly diagnosing choroid plexus hyperplasia as the cause of hydrocephalus in patients with chromosome 9p gain since ventriculoperitoneal shunting is likely to fail due to intolerable formation of ascites.

[Phenotypic variability in a family with genetically verified familial hemiplegic migraine type 2]. / Fænotypisk variation i en familie med genetisk verificeret familiær hemiplegisk migræne 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. Her father had childhood epilepsy and at the age of 40 and 44 he experienced two attacks with prolonged coma, fever, seizures, hemiparesis and aphasia. His mother had symptoms of severe hemiplegic migraine. Father and daughter were genetically tested and an earlier described mutation in ATP1A2 gene was found. These cases illustrate the phenotypic variability in familial hemiplegic migraine type 2.

[A late debut of childhood disintegrative disorder]. / Disintegrativ udviklingsforstyrrelse med sen debut hos et barn

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. The importance of recognition of the condition and an integrated child psychiatric and paediatric assessment is emphasized.

[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. The characteristic distribution and appearance of the cutaneous symptoms often allows a clinical diagnosis of the condition.

[Ramsay Hunt syndrome in a 13-year-old boy]. / Ramsay Hunts syndrom hos en 13-årig dreng.

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. Pleocytosis was found and positive polymerase chain reaction for varicella zoster virus was obtained in samples from the vesicles and the cerebrospinal fluid. A magnetic resonance imaging confirmed neuritis of the left facial nerve. The patient was treated with a combination of aciclovir and prednisolone for ten days. On follow-up one week later, full recovery had been obtained.

[Congenital hemifacially infiltrating lipomatosis]. / Medfødt hemifacialt infiltrerende lipomatose.

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. Magnetic resonance imaging confirmed diffuse fatty infiltration with overgrowth of regional bony and soft tissue structures. Intracranial structures were normal as was the boy's cognitive development.

[Mowat-Wilson syndrome: a report of three Danish cases]. / Mowat-Wilson-syndrom hos tre danske børn.

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. MWS was first described in 1998 and until now approximately 180 cases have been reported worldwide. We report the first three molecularly confirmed Danish cases with MWS.

[Pervasive refusal syndrome in a 12-year-old boy]. / Afvisningssyndrom hos en 12-årig dreng.

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. He fulfilled all proposed criteria of the pervasive refusal syndrome. At a follow-up at the age of 20 years, he was pursuing a normal independent life with his girlfriend and was attending higher education.

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. Abnormalities on MRS, suggesting an increase in the glutamine-glutamate complex in the basal ganglia, were found in both cases while on vigabatrin treatment. These changes remitted in the first case after reduction of vigabatrin dose and when seizure free and with a normalized EEG, but persisted in the second case following cessation of vigabatrin without remission of seizure activity.

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. Both patients underwent uneventful splenectomy and experienced significant improvement in cytopenia, daily activity and well-being. Furthermore the youngest patient showed a significant catch-up growth. We conclude that in selected patients with marked splenomegaly and ALPS, splenectomy may be considered a treatment option.

[Neurological symptoms and acute hepatitis associated with parvovirus B19]. / Neurologiske symptomer og akut hepatitis associeret til 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. Later she developed signs of acute hepatitis. The course was benign.