Pediatric acute flaccid myelitis: Evaluation of diagnostic criteria and differentiation from other causes of acute flaccid paralysis.

BACKGROUND: Acute flaccid paralysis (AFP) is characterized by rapidly progressive limb weakness with low muscle tone. It has a broad differential diagnosis, which includes acute flaccid myelitis (AFM), a rare polio-like condition that mainly affects young children. Differentiation between AFM and other causes of AFP may be difficult, particularly at onset of disease. Here, we evaluate the diagnostic criteria for AFM and compare AFM to other causes of acute weakness in children, aiming to identify differentiating clinical and diagnostic features. METHODS: The diagnostic criteria for AFM were applied to a cohort of children with acute onset of limb weakness. An initial classification based on positive diagnostic criteria was compared to the final classification, based on application of features suggestive for an alternative diagnosis and discussion with expert neurologists. Cases classified as definite, probable, or possible AFM or uncertain, were compared to cases with an alternative diagnosis. RESULTS: Of 141 patients, seven out of nine patients initially classified as definite AFM, retained this label after further classification. For probable AFM, this was 3/11, for possible AFM 3/14 and for uncertain 11/43. Patients initially classified as probable or possible AFM were most commonly diagnosed with transverse myelitis (16/25). If the initial classification was uncertain, Guillain-Barré syndrome was the most common diagnosis (31/43). Clinical and diagnostic features not included in the diagnostic criteria, were often used for the final classification. CONCLUSION: The current diagnostic criteria for AFM usually perform well, but additional features are sometimes required to distinguish AFM from other conditions.

Long-term outcomes for females with early-onset dystrophinopathy.

AIM: To study long-term disease course for females with early-onset dystrophinopathy, including common (female) symptoms, challenges in social participation, the need for care, and current healthcare management to support guideline development. METHOD: Twelve females with early-onset dystrophinopathy were followed for a median period of more than 17 years (range 1-36). RESULTS: One patient died owing to end-stage cardiac failure. Cardiac abnormalities were observed in three of the remaining 11 participants. Respiratory function was reduced in seven of 10 participants. Fatigue, myalgia, lower back pain, and arthralgia were reported in more than six of the participants. Functional status varied from exercise intolerance to wheelchair dependency. Most or all of the 10 participants reported restrictions in participation in work (n = 10), household duties (n = 10), sports (n = 9), and education (n = 8). Only a few participants received followed-up pulmonary (n = 2) or rehabilitation (n = 3) care. INTERPRETATION: Females with early-onset dystrophinopathy experience a wide range of impairments, comorbidities, limitations in activities, and restrictions in social participation. The whole spectrum should be acknowledged in the healthcare setting. Neuromuscular and cardiac follow-up are indispensable. Additional respiratory assessment and rehabilitation care are expected to improve health status and support daily activities and participation. WHAT THIS PAPER ADDS: No standard diagnostic procedures seem to exist for female patients suspected for dystrophinopathy. Female participants with early-onset dystrophinopathy experienced a broad scope of burdening symptoms, such as fatigue, myalgia, lower back pain, and arthralgia. None of participants worked full time, all felt restricted in paid work, and most felt restricted in education. Most participants showed decreased lung function, while only one was symptomatic. Availability of rehabilitation care may improve support for daily activities and participation for females with early-onset dystrophinopathy.

Epidemiology of acute flaccid myelitis in children in the Netherlands, 2014 to 2019.

BackgroundAcute flaccid myelitis (AFM) is a polio-like condition affecting mainly children and involving the central nervous system (CNS). AFM has been associated with different non-polio-enteroviruses (EVs), in particular EV-D68 and EV-A71. Reliable incidence rates in European countries are not available.AimTo report AFM incidence in children in the Netherlands and its occurrence relative to EV-D68 and EV-A71 detections.MethodsIn 10 Dutch hospitals, we reviewed electronic health records of patients diagnosed with a clinical syndrome including limb weakness and/or CNS infection and who were < 18 years old when symptoms started. After excluding those with a clear alternative diagnosis to AFM, those without weakness, and removing duplicate records, only patients diagnosed in January 2014-December 2019 were retained and further classified according to current diagnostic criteria. Incidence rates were based on definite and probable AFM cases. Cases' occurrences during the study period were co-examined with laboratory-surveillance detections of EV-D68 and EV-A71.ResultsAmong 143 patients included, eight were classified as definite and three as probable AFM. AFM mean incidence rate was 0.06/100,000 children/year (95% CI: -0.03 to 0.14). All patient samples were negative for EV-A71. Of respiratory samples in seven patients, five were EV-D68 positive. AFM cases clustered in periods with increased EV-D68 and EV-A71 detections.ConclusionsAFM is rare in children in the Netherlands. The temporal coincidence of EV-D68 circulation and AFM and the detection of this virus in several cases' samples support its association with AFM. Increased AFM awareness among clinicians, adequate diagnostics and case registration matter to monitor the incidence.

Acquired visual agnosia as an uncommon presentation of epileptic encephalopathy in a 6-year-old boy with CSWS.

BACKGROUND: Acquired visual agnosia in the context of continuous spikes and waves during slow sleep (CSWS) is rarely described. We present a case of an almost 7-year-old boy who lost his ability to name pictures and recognize familiar faces. Initial encephalography (EEG) revealed sleep induced epileptiform activity with a spike-wave index (SWI) of 100%, predominanting in the left posterior head region. METHODS: Serial neuropsychological testing with concomitant EEG was done during the first 18 months of treatment with intravenous methylprednisolone. We administered intelligence scales, verbal tasks (memory, fluency), visual tasks (drawings, search, face recognition), and tasks requiring visual-verbal integration (picture naming, visual closure). ANALYSES: Neuropsychological recovery studied with reliable cognitive change cut-offs and 95% confidence intervals. RESULTS: With treatment, there was an improvement of the EEG pattern (SWI reduction to 45%), followed by a relapse (SWI 82%). Neuropsychological measures in part synchronized with improvement, stability, and fluctuating values. Significant increases were seen on Verbal Comprehension Index and semantic memory. Visual Spatial Index remained unchanged (67 to 73). Naming pictures showed only limited change. Interpreting degraded pictures remained extremely difficult. DISCUSSION: Acquired visual agnosia may be seen in children with CSWS. Early recognition, prompt accurate treatment and tailored neuropsychological assessment remain crucial.

[A child with inexplicable alteration of consciousness]. / Een kleuter met onbegrepen gedaald bewustzijn.

A 4-year-old girl presented with an alteration of consciousness and absence of speech after a short period of vomiting, diarrhoea and fever. MRI of the brain revealed a focal lesion in the splenium of the corpus callosum. Rotavirus was detected in the faeces. We concluded that the rotavirus infection had caused mild encephalopathy with a reversible splenial lesion.

Clinical experience with long-term acetazolamide treatment in children with nondystrophic myotonias: a three-case report.

BACKGROUND: Today, treatment of the nondystrophic myotonias consists of mexiletine, although care has to be taken because of the proarrhythmogenic potential of this drug. In this article, we report years of experience with the carbonic anhydrase inhibitor acetazolamide. PATIENTS: We present three children with nondystrophic myotonias. RESULTS: During acetazolamide treatment, symptoms and signs of myotonia decreased in our children. CONCLUSIONS: Based on this clinical experience and the favorable pharmacologic profile of acetazolamide, it may be a good treatment option for children with nondystrophic myotonias.

Oral muscles are progressively affected in Duchenne muscular dystrophy: implications for dysphagia treatment.

Dysphagia is reported in advanced stages of Duchenne muscular dystrophy (DMD). The population of DMD is changing due to an increasing survival. We aimed to describe the dysphagia in consecutive stages and to assess the underlying mechanisms of dysphagia in DMD, in order to develop mechanism based recommendations for safe swallowing. In this cross-sectional study, participants were divided into: early and late ambulatory stage (AS, n = 6), early non-ambulatory stage (ENAS, n = 7), and late non-ambulatory stage (LNAS, n = 11). Quantitative oral muscle ultrasound was performed to quantify echo intensity. Swallowing was assessed with a video fluoroscopic swallow study, surface electromyography (sEMG) of the submental muscle group and tongue pressure. Differences in outcome parameters among the three DMD stages were tested with analysis of variance. Oral muscles related to swallowing were progressively affected, starting in the AS with the geniohyoid muscle. Tongue (pseudo) hypertrophy was found in 70 % of patients in the ENAS and LNAS. Oral phase problems and post-swallow residue were observed, mostly in the LNAS with solid food. sEMG and tongue pressure data of swallowing solid food revealed the lowest sEMG amplitude, the longest duration and lowest tongue pressure in the LNAS. In case of swallowing problems in DMD, based on the disturbed mechanisms of swallowing, it is suggested to (1) adjust meals in terms of less solid food, and (2) drink water after meals to clear the oropharyngeal area.

Mutations in TPM2 and congenital fibre type disproportion.

The main diagnostic feature of congenital fibre type disproportion is that type 1 fibres are consistently smaller than type 2 fibres in the absence of other histological abnormalities. Mutations in the TPM3, RYR1 and ACTA1 genes are the most common established genetic causes. There has been one previous report of congenital fibre type disproportion due to a mutation in TPM2, although some atypical histological features were present. We present two cases in which novel de novo missense mutations in TPM2 are associated with marked fibre size disproportion. The finding of typical histological changes of congenital fibre type disproportion in association with a p.Ser61Pro mutation confirms that TPM2 can cause typical congenital fibre type disproportion. Although not seen on light microscopy studies, protein inclusions typical of small 'caps' were found on electron microscopy in a second patient with a p.Ala155Val mutation in TPM2. This case emphasises the importance of electron microscopy in patients with presumed congenital fibre type disproportion, to exclude the presence of caps, nemaline bodies or minicores, which, if present, may be very helpful in guiding genetic analysis.

Neonatal swallowing assessment and practical recommendations for oral feeding in a girl with a severe congenital myopathy.

The investigators report the case of a 6-week-old girl with a cap-like congenital myopathy and frequent coughing during feeding. Neonatal swallowing assessments were performed with surface electromyography of the submental muscle group and nasal airflow during sucking and swallowing. A videofluoroscopic swallow study was performed separately. The registration of swallowing and breathing revealed a highly coordinated sequence of sucking, swallowing, and breathing. However, after a series of sucking and swallowing there was residue in the hypopharyngeal area, causing laryngeal penetration and coughing. Based on the findings, specific recommendations such as the use of a soft nipple, diminished suck-swallow sequences, and limited feeding time were made for this girl. These proved to be appropriate to prevent coughing as a signal of penetration or aspiration of milk during swallowing. This case highlights the profit of neonatal swallowing assessment, which can provide recommendations for safe oral feeding.

[An infant with unexplained epilepsy]. / Een zuigeling met onbegrepen epilepsie: slachtoffer van münchhausen-by-proxysyndroom.

A 6-month-old male infant with an unremarkable past medical history was admitted to the emergency department in an epileptic state. The seizures were resistant to treatment with conventional drugs. The child was sedated, intubated and admitted to the intensive care department. Despite extensive investigations no underlying disease was found. The seizures persisted and the child was repeatedly admitted to the hospital. Four months after the first presentation, ventricular fibrillation occurred from which the child was successfully resuscitated. His stomach appeared to contain a disinfectant and a severe ethanol-intoxication was found, leading to the diagnosis "Munchausen syndrome by proxy". The incidence of this syndrome is underestimated. Recognition of this potentially fatal phenomenon is often difficult, resulting in a delay in diagnosis. Paediatricians and general practitioners should be aware of this syndrome in children presenting with an unusual disease or an unusual medical history reported by the parents or care providers.

MRI of pneumorachis in a newborn infant with open myelomeningocele.

Pneumorachis, or air within the spinal canal, is a very rare radiographic finding, frequently of traumatic origin. A newborn infant with an open lumbosacral myelomeningocele presented with severe paraparesis and an unexpected dysfunction of the brainstem with somnolence, irregular respiration, and motor deficits of the upper extremities. Magnetic resonance imaging revealed hypoplasia of the brainstem and cerebellum and low-signal lesions on T(2)-weighted images at the cervicocranial junction, in the lateral ventricles, and in the spinal canal. Computed tomography confirmed the presence of intracranial and intraspinal air. The air disappeared 2 weeks later according to magnetic resonance imaging, but no clinical improvement occurred, even after 6 months. Pneumorachis and pneumocephalus can occur in newborn infants as an unexpected complication of an open myelomenigocele, with or without signs. The radiographic appearance of intraspinal air on magnetic resonance imaging was not described previously.

Walking and periventricular leukomalacia: locomotor characteristics and brain imaging (MRI).

The aim of the present study was to compare the walking abilities in infants with and without periventricular leukomalacia and to see whether the severity of the brain damage was related to locomotor outcome of the infants at 12 and 18 months. 47 newborns were included in the study based on white matter abnormalities on ultrasound. Magnetic resonance imaging (MRI) recordings during the neonatal period were used to identify and quantify the location and severity of the brain lesions. Locomotor outcome was assessed in terms of disability at 12 and 18 months. The quality of walking, including global and segmental gait parameters, was measured for the infants who could walk independently at 18 months and compared to a group of healthy control infants. The number of children who could walk was related to the extent of white matter abnormalities seen on the neonatal MRI, but the quality of walking was not.

Pediatric median neuropathy due to pruritus in Alagille syndrome.

Median entrapment neuropathy or carpal tunnel syndrome is uncommon in children. The majority of cases are related to genetic conditions which result in skeletal dysplasia or altered connective tissue characteristics, direct injury to the median nerve caused by intensive sports or trauma, or hereditary neuropathy with liability to pressure palsies. This report describes a 10-year-old patient with Alagille syndrome who presented with poor fine motor skills because of an entrapment neuropathy of the median nerve at the wrist. This condition was probably caused by intermittent external compression at the wrists due to years of rubbing both wrists and hands to relieve pruritus. To our knowledge, median neuropathy has never been associated with Alagille syndrome, although severe pruritus is considered a major symptom and many patients exhibit widespread scratching and rubbing.

Secondary parkinsonism in childhood: A rare complication after radiotherapy.

Secondary parkinsonism is uncommon in children and exceedingly rare after cranial radiotherapy. This report describes a 14-year-old female who presented with growth retardation as a result of a craniopharyngioma, which was partially resected. A secondary hydrocephalus responded well to shunting. She gradually developed a severe hypokinetic-rigid syndrome 6 months after radiotherapy (54 Gray in 30 daily fractions of 1.8 Gray). In addition, her vigilance decreased. Magnetic resonance imaging revealed increased signal intensity on T2-weighted images in the globus pallidus bilaterally. Nuclear scans indicated only a marginal striatal dopaminergic deficit and revealed decreased metabolism in the thalamus bilaterally. Treatment with dopamine agonists resulted in minor improvement in motor function. Magnetic resonance imaging investigations 3 months later disclosed a decrease of signal intensity changes of the globus pallidus. Gradually, bradykinesia diminished slightly and vigilance increased little. In conclusion, secondary and partially reversible parkinsonism can occur in children after radiotherapy. We suggest that focal encephalopathy resulting from postradiation edema secondary to microangiopathy led to dysfunction of the globus pallidus and thalamus.

Muscle power development in preterm infants with periventricular flaring or leukomalacia in relation to outcome at 18 months.

Periventricular flaring (PVF) or periventricular leukomalacia (PVL) was diagnosed by brain ultrasound during the neonatal period in 44 infants (34 males, 10 females; mean gestational age 31 weeks 2 days, SD 2 weeks 1 day) admitted between 1995 and 1997. The infants were divided into three groups according to the severity of their condition. At 0, 3, and 6 months' corrected age an age-adequate neurological examination with special emphasis on the relation between active and passive muscle power was performed and symmetry between right and left sides was assessed. Results for the whole body, as well as for the shoulders, trunk, and legs were classified as optimal, suspect, or abnormal. Motor outcome at 18 months' corrected age was graded in the same way. An overall optimal muscle power regulation was found in one infant at 0, two at 3, and one at 6 months. Suspect outcome was found at all ages in the three groups. At 0 months muscle power regulation did not differ between the three groups. At 3 and 6 months overall poor muscle power, primarily caused by poor muscle power regulation in the shoulders and trunk, was found in infants with PVL grades III or IV. At 18 months' corrected age 24 infants showed no neurological impairment, eight infants had minor impairment, and 12 infants had severe impairment, including all 10 infants categorized as having PVL grades II or IV. The best predictors of impairment at 18 months were the combined results of muscle power in the shoulders and trunk at 3 months with those of the shoulders at 6 months.

Spontaneous leg movements in infants with and without periventricular leukomalacia: effects of unilateral weighting.

The present study was designed to investigate the contribution of the corticospinal tracts in the regulation and coordination of interlimb couplings and the spatio-temporal organization of kicking movements in young infants. Both healthy infants and those with differing degrees of periventricular leukomalacia (PVL) were subjected to a unilateral weight manipulation at the (corrected) age of 26 weeks. Infants with PVL were grouped according to the amount of damage in the area in which the corticospinal tracts are located as shown by neonatal MRI and confirmed with MRI recordings at 18 months. The main question asked was whether unilateral weighting would reveal different adjustment in infants with and without PVL and whether these differences were related to the severity of the lesions, if present. The major finding was that no differences were evident between groups in adjusting to the weight manipulation with regard to the tightness of interlimb couplings. This finding corroborates the suggestion that corticospinal influences are not directly involved in the regulation of these parameters. Although the same conclusion could be drawn concerning the kinematic details of kicks on the basis of group data, individual analyses revealed that kinematics in a few infants with PVL were markedly affected by the weighting. Thus, combining group with individual analyses may have additional value in the clinical interpretation of the effects of PVL on the neural functions of young infants.