Paediatric neuromyelitis optica: clinical, MRI of the brain and prognostic features.

Background: Neuromyelitis Optica (NMO) is a severe and rare inflammatory condition, where relapses are predictive of disability.

Methods: We describe a national paediatric NMO cohort's clinical, MRI, outcome, and prognostic features in relation to Aquaporin-4 antibody (AQP4-Ab) status, and compared to a non NMO control cohort.

Observations: Twenty NMO cases (females = 90%; AQP4-Ab positive = 60%; median age = 10.

Autoantibody biomarkers in childhood-acquired demyelinating syndromes: results from a national surveillance cohort.

Background: Autoantibodies to glial, myelin and neuronal antigens have been reported in a range of central demyelination syndromes and autoimmune encephalopathies in children, but there has not been a systematic evaluation across the range of central nervous system (CNS) autoantibodies in childhood-acquired demyelinating syndromes (ADS).

Methods: Children under the age of 16 years with first-episode ADS were identified from a national prospective surveillance study; serum from 65 patients had been sent for a variety of diagnostic tests. Antibodies to astrocyte, myelin and neuronal antigens were tested or retested in all samples.

Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features.

Objective: Changing trends in multiple sclerosis (MS) epidemiology may first be apparent in the childhood population affected with first onset acquired demyelinating syndromes (ADSs). We aimed to determine the incidence, clinical, investigative and magnetic resonance imaging (MRI) features of childhood central nervous system ADSs in the British Isles for the first time.

Methods: We conducted a population active surveillance study.

Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters.

Neurexin 1 (NRXN1) is a cell adhesion protein, the normal function of which is critical for effective neurotransmission. It forms a trans-synaptic complex in the central nervous system with neuroligin. There has been one case in the literature of a patient with a heterozygous deletion in NRXN1 on one allele and a nonsense mutation on the other allele, reported to have a Pitt Hopkins-like phenotype.

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies.

Many clinical features of autosomal centronuclear myopathies (CNM) and X-linked myotubular myopathy (XLMTM) are common to congenital myasthenic syndromes (CMS). We describe three children whose clinical and electrophysiological findings originally suggested CMS, in whom CNM was diagnosed pathologically, though not yet genetically characterised. A fourth case, with XLMTM, also showed electrophysiological features of a neuromuscular transmission defect.

An unusual cause of head drops.

The presence of vertical ocular motor apraxia should prompt a careful assessment to detect an underlying neurometabolic condition. But congenital vertical ocular motor apraxia is a rare entity that may be attributed to perinatal stroke, hypoxia or kernicterus. We report a case of a 5-year old girl with congenital vertical ocular motor apraxia.

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.

Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects approximately 85% mutations in infantile neuroaxonal dystrophy. We report the novel use of multiplex ligation-dependent probe amplification (MLPA) analysis to detect novel PLA2G6 duplications and deletions.

Acquired transverse myelopathy in children in the United Kingdom--a 2 year prospective study.

Aims: To define the incidence, describe presentation, management and outcome and identify prognostic factors in Acquired Transverse Myelopathy (ATM) in children under 16 years.

Methods: A prospective population-based surveillance study, involving all consultant paediatric neurologists in the United Kingdom from 1 July 2002 to 30 June 2004.

Results And Discussion: Response rate was 91%, and 60 children were reported, of whom 41 were included.

Dancing Eye Syndrome associated with spontaneous recovery and normal neurodevelopment.

Five patients with spontaneously recovering Dancing Eye Syndrome/Opsoclonus Myoclonus Syndrome are described. Age at presentation ranged from 4 to 19 months. Four had symptoms of fever and a coryzal illness within days to a few weeks prior to the onset.

A prospective study of the presentation and management of dancing eye syndrome/opsoclonus-myoclonus syndrome in the United Kingdom.

The incidence, mode of presentation and management of Dancing Eye Syndrome/Opsoclonus-Myoclonus Syndrome (DES/OMS) was prospectively evaluated in 20 United Kingdom (UK) paediatric neurology centres by questionnaire over a 24-month period between 2003 and 2005. Nineteen children were notified, giving an incidence of 0.18 cases per million total population per year.

The changing face of paediatric hydrocephalus: a decade's experience.

All 253 children receiving neurosurgical intervention for hydrocephalus (HCP) at a single British Neurosurgical Unit over a decade were investigated by retrospective case note review. Referral rates and mean age at presentation remained stable throughout, as did proportions of children presenting due to myelomeningocoele or meningitis. Comparing the first and second halves of the decade, the predominant aetiologies (intraventricular haemorrhage [IVH] at <1 year and brain tumour at 1-16 years) reduced from comprising half (70/129) of all cases to just over one-third (43/124).

Renal vascular disease in neurofibromatosis type 2: association or coincidence?

Neurofibromatosis type 2 (NF2) remains a challenging diagnosis in childhood where there may be no neurological involvement. A 12-month-old male in whom NF2 was suspected because of characteristic ophthalmological and cutaneous lesions is reported. Cranial MRI showed no tumours.

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

Glycogen storage disease type IV or Andersen disease is an autosomal recessive disorder due to deficiency of glycogen branching enzyme. Typically, glycogen storage disease type IV presents with rapidly progressive liver cirrhosis and death in childhood. Variants include a cardiopathic form of childhood, a relatively benign myopathic form of young adults, and a late-onset neurodegenerative disorder (adult polyglucosan body disease).