ABSTRACT
BACKGROUND: Narcolepsy is a chronic disease and is commonly diagnosed in adulthood. However, more than half of the patients have onset of symptoms in childhood and/or adolescence. The full spectrum of clinical manifestations, namely excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis, is usually not present at disease onset, delaying diagnosis during childhood. Mean delay in diagnosis since symptom onset is known to be several years. Initial manifestations can sometimes be as subtle as only partial drooping of eyelids leading to confusion with a myasthenic condition. PATIENTS: We present two children who presented with "cataplectic facies," an unusual facial feature only recently described in children with narcolepsy with cataplexy. RESULT: The diagnosis of narcolepsy was confirmed by multiple sleep latency test along with human leukocyte antigen typing and cerebrospinal fluid hypocretin assay. CONCLUSION: The diagnosis of narcolepsy with cataplexy at onset can be challenging in young children. With more awareness of subtle signs such as cataplectic facies, earlier diagnosis is possible. To date, only 11 children between 6 and 18 years of age presenting with typical cataplectic facies have been reported in the literature. We present two patients, one of whom is the youngest individual (4 years old) yet described with the typical cataplectic facies.
Subject(s)
Facies , Narcolepsy/diagnosis , Child , Child, Preschool , Diagnosis, Differential , Female , HLA Antigens/metabolism , Humans , Intracellular Signaling Peptides and Proteins/cerebrospinal fluid , Male , Narcolepsy/physiopathology , Neuropeptides/cerebrospinal fluid , Orexins , PolysomnographyABSTRACT
AIM: Buccal midazolam has emerged as an effective alternative to rectal diazepam in the management of paediatric status epilepticus. This study aimed to identify carers' views on the safety, efficacy and acceptability of buccal midazolam in the management of this common neurological emergency. METHODS: Community-based, face-to-face interviews were carried out with 34 carers to evaluate the effectiveness, adverse effects and convenience of buccal midazolam as a rescue treatment for prolonged seizures. All children received 2.5 to 10 mg of Epistatus, a proprietary oral solution (10 mg/mL). We evaluated therapeutic success, time taken for seizures to cease and the need to attend the emergency department, together with the development of side effects, namely respiratory depression and sedation. RESULTS: Most of the families (91%) found that buccal midazolam was always, or usually, effective in stopping seizures and it prevented hospital admission in 65% of cases. The majority (96%) of those who had used both buccal midazolam and rectal diazepam preferred the former as it was easier to administer, more socially acceptable and did not sedate the child as much. CONCLUSION: Carers felt that buccal midazolam was an effective, safe and more acceptable alternative to rectal diazepam in the management of paediatric status epilepticus.
Subject(s)
Attitude , Caregivers , Midazolam/administration & dosage , Personal Satisfaction , Status Epilepticus/drug therapy , Administration, Oral , Child , Humans , Interviews as Topic , Midazolam/adverse effectsABSTRACT
The diagnosis of juvenile neuronal ceroid lipofuscinosis (JNCL) is usually based on age of onset, initial clinical symptoms, clinical progression, and pathologic findings. Our cases manifested atypical clinical symptomatology and/or pathologic findings and therefore, represent variant forms of JNCL. Case 1 and 2 presented with slow developmental regression from the age of 4 years and became blind and wheelchair bound at around 8 years. Pathologic finding of lymphocytes showed fingerprint inclusion which was consistent with JNCL. Mutational analysis was positive for CLN5 which usually presents as variant late infantile NCL (LINCL) and more common in Finnish population. Case 3 presented with progressive visual loss from the age of 8 years. Clinical symptomatology and age of onset were similar to that of JNCL but was found to have low palmitoyl protein thioesterase, granular inclusion body, and CLN1 mutation, thus representing milder form of INCL. These three cases demonstrated phenotypic-genotypic variations. Pertinent issues relating diagnostic difficulties, ophthalmologic, neuroradiological, and laboratory aspects are discussed.
ABSTRACT
Skeletal muscle sodium channelopathies (SMSCs) including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita (PC), and sodium channel myotonia are caused by sodium channel gene (SCN4A) mutations, with altered sarcolemal excitability, and can present as episodes of skeletal muscle weakness, paralysis, and myotonia. We report a teenage boy, who presented with features of HyperPP, PC, myotonia congenita, and sodium channel myotonia. His electromyography (EMG) revealed myopathic changes, myotonia, and Fournier EMG pattern I, and posed a diagnostic challenge. Genetic analysis showed Thr704Met mutation in SCN4A gene. While with typical clinical phenotypes, the electromyographic patterns can be used to direct genetic testing, atypical phenotypes may pose diagnostic dilemmas. Clinicians dealing with neuromuscular disorders in children need to be aware of the unusual clinical presentations of SMSC, so that focused genetic testing can be carried out.
ABSTRACT
MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia. It is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations. We report a 2-year-old girl with severe neurodevelopmental delay, microcephaly, minimal pontine hypoplasia, cerebellar hypoplasia, and normal looking corpus callosum, with whom the conventional cytogenetic studies turned out to be normal, and an array-comparative genomic hybridization (a-CGH) analysis showed CASK gene duplication at Xp11.4. Our case highlights the importance of using clinico-radiologic phenotype to guide genetic investigation and it also confirms the role of a-CGH analysis in establishing the genetic diagnosis of MICPCH syndrome, when conventional cytogenetic studies are inconclusive.
ABSTRACT
Acute ataxia is a relatively common presentation to the paediatric acute services or child neurologist. Although the cause of ataxia is most often benign, it is important during initial assessment to recognise or exclude serious causes including brain tumour and central nervous system infections. It is equally important to recognise the non-neurological causes of unsteady gait and to avoid unnecessary investigations. In this review, we have presented a diagnostic approach to a child presenting with acute ataxia and described various causes, their treatments and outcomes.