Geetha Anand

Early use of high‐dose riboflavin in a case of Brown–Vialetto–Van Laere syndrome

Brown–Vialetto–Van Laere syndrome (BVVLS) is a genetic condition caused by a mutation in the C20orf54 gene, which also codes for an intestinal riboflavin transporter. We report the case of a female who presented at 22 months with acute‐onset stridor and generalized muscle weakness, in whom a genetic diagnosis of BVVLS was made, and whose symptoms improved on therapy with high‐dose riboflavin. She had previously been developing normally and was able to walk at 11 months, then developed progressive muscle weakness at 22 months, and within 2 weeks was unable to sit without support. She also demonstrated stridor and paradoxical breathing indicating diaphragmatic weakness, and required continuous non‐invasive ventilation (NIV) through a tracheostomy. After treatment with riboflavin she was able to walk unaided, and her Gross Motor Functional Classification level improved from level IV to level I, having fully regained the motor function she showed before symptom onset. There were no longer signs of diaphragmatic paralysis while on NIV, and she was able to tolerate 10‐minute periods off NIV before paradoxical breathing again became apparent. We therefore recommend that in all cases suspected to be in the BVVLS or Fazio–Londe spectrum, early treatment with high‐dose riboflavin must be considered.

X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode

X‐linked hereditary motor sensory neuropathy type 1 (CMTX 1) is caused by mutation in the GJB1 gene that codes for the connexin 32 protein. Central nervous system involvement with or without white matter changes on magnetic resonance imaging (MRI) has rarely been reported in this condition. We report the case of a 7‐year‐old, previously well male who presented with a stroke‐like episode that manifested as left hemiparesis and dysphasia. An initial brain MRI showed white matter signal changes affecting the corpus callosum and periventricular areas with a posterior predominance. Our patient made a complete clinical recovery in 36 hours. Clinical examination at this stage showed no evidence of a peripheral neuropathy. A repeat brain MRI 6 weeks later showed almost complete resolution of the changes seen initially. Subsequent investigations showed a Val177Ala mutation in the GJB1 gene. This mutation has so far not been described in the Caucasian population and has been only described once before. Electrophysiological studies showed a mixed demyelinating and axonal sensorimotor neuropathy in keeping with CMTX 1. Five months after the initial presentation our patient developed clinical evidence of a peripheral neuropathy in the form of absent ankle reflexes, weak dorsiflexors, and evertors of both feet.

Milder phenotypes of glucose transporter type 1 deficiency syndrome

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a treatable condition resulting from impaired glucose transport into the brain. The classical presentation is with infantile‐onset epilepsy and severe developmental delay. Non‐classical phenotypes with movement disorders and early‐onset absence epilepsy are increasingly recognized and the clinical spectrum is expanding. The hallmark is hypoglycorrhachia (cerebrospinal fluid [CSF] glucose<2.2mmol/l) in the presence of normoglycaemia with a CSF/blood glucose ratio of less than 0.4. GLUT1DS is due to a mutation in the solute carrier family 2, member 1 gene (SLC2A1). We present five individuals (four males, one female), all of whom had a mild phenotype, highlighting the importance of considering this diagnosis in unexplained neurological disorders associated with mild learning difficulties, subtle motor delay, early‐onset absence epilepsy, fluctuating gait disorders, and/or dystonia. The mean age at diagnosis was 8 years 8 months. This paper also shows phenotypical parallels between GLUT1DS and paroxysmal exertion‐induced dyskinesia.

Isolated paediatric neurosarcoidosis presenting as epilepsia partialis continua: A case report and review of literature

Isolated paediatric neurosarcoidosis (IPN) is exceptionally rare and only seven cases have been reported so far in the literature. We report the clinical and radiological profile of a 7 year-old boy with epilepsia partialis continua (EPC) who was initially thought to have Acute Disseminated Encephalomyelitis (ADEM), but was subsequently found to have isolated neurosarcoidosis. Additionally, we performed a literature search on Medline and Embase and secondary sources of data such as reference list of articles reviewed. Whilst cranial neuropathy is the commonest presenting feature in adults with neurosarcoidosis, paediatric patients are more likely to present with seizures. Diagnosis presents a clinical challenge as a result of its protean manifestations. Due to its rarity, there remains a lack of evidence base to inform the best choice of treatment for these children. Our patient was successfully treated with a combination of various immunomodulants.

An unusual case of extreme hypernatraemia

A 4-year-old severely disabled boy with a congenital myopathy developed profuse diarrhoea with hypernatraemia (plasma Na 157 mmol/l). The initial blood urea, serum creatinine and urine output were within normal limits. Despite corrective measures within a hospital setting, the patient’s serum sodium peaked at 202 mmol/l. A high fractional excretion of sodium (FE Na) in the context of dehydration and normal renal function was suggestive of a high sodium load. Subsequent investigations revealed an unusual combination of valproate-induced Fanconi syndrome, nephrogenic diabetes insipidus and excess sodium load. The case illustrates why severe hypernatraemia in children is such a diagnostic challenge.

Altered functional brain connectivity in children and young people with opsoclonus-myoclonus syndrome.

Opsoclonus–myoclonus syndrome (OMS) is a rare, poorly understood condition that can result in long‐term cognitive, behavioural, and motor sequelae. Several studies have investigated structural brain changes associated with this condition, but little is known about changes in function. This study aimed to investigate changes in brain functional connectivity in patients with OMS.

Nonotogenic Skull Base Osteomyelitis in Children: Two Cases and a Review of the Literature.

Skull base osteomyelitis is a rare condition in childhood and can be described according to whether it is associated with spread of infection from the middle ear (otogenic) or not (nonotogenic). Early recognition of this serious disease and prompt treatment are key to preventing extension to adjacent vascular and nervous system structures. Diagnosis can be challenging due to the variable presentation of the disease and potentially subtle radiological appearances. We present 2 cases of nonotogenic skull base osteomyelitis in childhood both affecting the clivus and review the 6 cases previously described. Both children presented with fever, headache and neck stiffness and responded well to medical management alone; detailed imaging was key to making a diagnosis.

Why the confusion in Hashimoto's encephalopathy?

A 13-year-old girl presented with an afebrile seizure followed by prolonged confusion and visual hallucinations. Initial investigations in the form of blood tests, cerebrospinal fluid analysis and head imaging by CT, were normal. She represented with two further episodes within a period of 3 weeks. Further investigations considering infective, metabolic and some autoimmune causes of encephalopathy were negative. An MRI head scan was normal. Thyroid function testing disclosed primary hypothyroidism and elevated antithyroid antibodies. She responded well to glucocorticoid therapy for presumed Hashimoto’s encephalopathy (HE). HE describes patients with various neurological manifestations with elevated titres of antithyroid antibodies. There are no clear criteria for diagnosis, with many cases labelled as HE. Responses to corticosteroid therapy are favourable. In patients with unexplained encephalopathy, HE should be considered given the favourable response to glucocorticoid therapy.

Is paediatric epilepsy getting less common

Worldwide, epilepsy is one of the most common neurological disorders. Prevalence data on the burden of epilepsy suggests considerable variation across the globe,1 with the highest prevalence in developing countries. While this heterogeneity is multifactorial, there is no denying that diagnostic difficulties in epilepsy have long been recognised globally. The paper from Wilhelmine et al 2 would suggest that the cumulative and annual incidence of epilepsy in children is declining. The change observed over just a decade is striking. The authors suggest a number of explanations, including greater accuracy in diagnosis and changes in population risk factors. This paper should give cause for reflection on the advances that have been made in the diagnosis and management of epilepsy in recent years. Epilepsy in children and adults has attracted a lot of attention in the past two decades. Sudden unexpected death in epilepsy (SUDEP) became an …

Video EEG outcome on children referred following a single unprovoked afebrile seizure

To look at the outcome of the routine video EEG (vEEG) wake and sleep records on children referred following a single unprovoked afebrile seizure. We examined all the vEEGs that were undertaken in a regional paediatric neurophysiology department in Oxford, following a single unprovoked seizure over a 1-year period (2008–2009), several years after National Institute for Health and Clinical Excellence (NICE)1 guidelines for the management of …