Community Paediatrics (Oxford Specialist Handbooks in Paediatrics)

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Hypointense Hyperintense. Variable ADC. Peri- Hypointense. Infective: toxoplasmosis, cystericosis; TB, miliary bacterial abscesses. Lymphoma, high-grade glioma. Neuroradiological anatomy See Figures 2. Adapted from Fix JD Vertebral Anterior spinal Fig. Anatomical terms in radiology reports A number of potentially unfamiliar descriptor phrases are commonly used in neuroradiology reports: Centrum semiovale Refers to the subcortical white matter of the frontal and parietal lobes.

This is essentially all the white matter superior to the lateral ventricles, extending fully anteriorly and posteriorly area A in Figure 2. The name comes from the approximately semi-circular outline in each hemi- sphere of this area in axial views. Corpus striatum The internal capsule, basal ganglia and the intervening white matter C in Figure 2.

Trigone The triangular junction of the temporal and occipital horns of the lateral ventricle and the main body see location 42 in Figure 2. Pain and temperature spinothalamic tract ascending. Principles of neurophysiology Electroencephalography What is electroencephalography?

Even numbers refer to right-sided electrodes, odd numbers to left- sided electrodes. An EEG should be performed only to support a diagnosis of epilepsy. The pres- ence of normal age-appropriate background rhythms is a strong indicator of intact cortical function suggesting cortical sparing in any process under evaluation. Photic stimulation and hyperventilation should remain part of standard EEG assessment. In children, a sleep EEG is best achieved through sleep deprivation or the use of melatonin.

This is usually only helpful when events are daily. Basic EEG characteristics and reading reports Separate consideration is given to the background a general indicator of cortical function and paroxysmal activity related to epilepsy. Background rhythms Alter both with age Figure 2. Normal background rhythm frequencies increase and amplitudes decrease with age. An alpha rhythm on eye closure Figure 2. During sleep the EEG slows. More supportive of epilepsy would be persistent sharp, spike, or spike—wave complexes Figures 2.

A persistent slow wave focus may indicate an underlying structural lesion. From top, normal awake day-old infant. Centre, normal 5-year-old: theta rhythms posteriorly with emerging alpha. Bottom, normal year-old with well-developed alpha rhythm. The high voltage, chaotic EEG associated with infantile spasms. A Repeated single spikes in centrotemporal leads in this example predominantly on right even lead numbers. Appearance supports a diagnosis of benign childhood epilepsy with centrotemporal spikes BECTS in the appropriate clinical context see b p. Bottom C generalized 3Hz spike wave activity typical of childhood absence epilepsy see b p.

Nerve conduction studies See Tables 2. Procedure Some children smile through the procedure, others scream. A low threshold for premedication e. A pick up surface electrode is placed to record the compound muscle action potential CMAP over the appro- priate muscle group. Conduction velocity is dependent on the diameter and degree of myelina- tion of the neuron. In the newborn infant the velocity is only about one half the adult levels and does not reach adult level until 3—5 yrs of age at times later.

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Stimulus Stimulus point 2 point 1 T2 Record T1. Repetitive nerve stimulation CMAPs are recorded following a volley of 6—10 supramaximal stimulations of a nerve, e. Changes in CMAP amplitude e. Some neuromuscular transmission disorders Lambert—Eaton, botulism can cause paradoxical sequential increments in CMAP amplitude. Patchy demyelination causes attenuation of the compound muscle action stimulated proximally but stimulation nearer the muscle distal to the patchy demyelination gives normal results. The late responses These studies may be abnormal even when distal motor responses are normal as they test proximal function—they are useful in assessing radicu- lopathies, plexopathies, polyneuropathies, and proximal mononeuropathies.

F-wave F-wave studies are used to assess the proximal segments of the motor nerve function, and are performed in combination with the examination of motor nerves. It is best obtained in the small foot and hand muscles. Electrophysiologic correlates of peripheral nervous system maturation in infancy and childhood.

J Child Neurol 8 4 : —8. Reprinted by permission of SAGE publications. Dorsal root ganglion. Procedure This is uncomfortable, but best done on someone able to cooperate by contracting individual muscle groups Individual muscle groups are sampled with the insertion of a needle electrode. Sedation compromises the ability to cooperate, but give analgesia. Pragmatism needs to be used! Action potentials appear with voluntary contraction. As with any other ancillary medical test, clinical correlation is crucial. They indicate collateral re-innervation by surviving neurons with an increased territory.

Myasthenia Decay of the interference pattern with sustained effort. They are therefore low in myopathy and high in neuropathy. Results may be compared with age-matched normative data. Exercise testing: short and long exercise test Exercise may produce characteristic changes in CMAP amplitude in chil- dren with myotonic myopathies and periodic paralysis. This may also be seen in paramyotonia congenita.

Neurophysiological testing of central sensory pathways Many central sensory neurophysiological techniques use repeated averaging of EEG recordings time-locked to a repeating visual or auditory stimulus to extract EEG features that consistently appear following the stimulus. They are passive responses that can be elicited in the uncooperative ill or young child. Abnormal and markedly delayed wave form. As visual acuity returns, amplitude will improve but delayed latency is typically permanent.

Amplitude of the waveform decreases.

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Can also aid monitoring of condition in idiopathic intracranial hypertension. Aids monitoring of progression. In light- adapted retina, the response is dominated by the cone system. In the dark-adapted state, there will be a pure rod response. Specialist investigations Paediatric neurology does involve a number of potentially unfamiliar inves- tigations on blood, CSF, urine, and skin.

A basic understanding of these tests can aid their organization! Further studies can help clarify this: Albumin ratio useful d10 days of onset Albumin can cross the blood—brain barrier BBB , but is not synthesized intrathecally; hence, a raised CSF to serum albumin ratio indicates BBB breakdown. IgG index time independent Distinguishes local production of IgG e. CSF and serum levels of IgG can be compared using albumin as a refer- ence protein: a raised level indicates intrathecal IgG synthesis.

CSF neurotransmitters and folate metabolites A number of rare disorders of neurotransmitter metabolism involving serotonin, catecholamines, tetrahydrobiopterin, and folate biochemistry, can result in movement disorders see b p. Measurement of CSF levels of their metabolites usually 5 hydroxyindolacetic acid 5HIAA ; homovanillic acid HVA ; neopterin and biopterins; and folate metabolites is technically challenging.

There is a rostrocaudal gradient of neurotransmitter. If the CSF is blood stained it will either need to be centrifuged immediately and the supernatant transferred to a fresh tube, or the procedure should be abandoned until a later date. Samples must be frozen immediately into liquid nitrogen. CSF lactate and pyruvate See also section on blood lactate see b p. Spurious elevation of lactate in CSF is less problematic than in blood and elevated CSF lactate is strong circumstantial evidence of a disorder of oxidative metabolism including mitochondrial disorders.

CSF lactate elevation also occurs in meningitis. Temporary elevations may occur immediately after seizures but these tend to be modest. CSF pipecolate Elevated in pyridoxine dependent seizures see b p. A paired blood sample may be helpful but CSF should be immediately frozen and sent to the appropriate laboratory. Urine Urine microscopy Metachromatic granules in epithelial cells in early morning second sample of urine stained with toluidine blue are indicative of metachromatic leukodystrophy.

Urine catecholamine metabolites Catecholamines are dopamine, noradrenaline and adrenaline: their metabolites are the metadrenalines vanillmandelic acid VMA and HVA. Elevated levels are useful in the diagnosis of neuroblastoma. There is a high false-negative rate for this test, which may be supplemented with a meta-iodobenzyl guanidine MIBG test see b p.

Many substances may create artefactual changes including concomitant valproate administration.

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Capillary gas chromatography—mass spectrometry GC—MS is the preferred method of analysis. There is a risk of false negatives if urine is too dilute or the child has recovered from metabolic decompensation. Results may be available within hours in emergency situations. Urine amino acids Analysis may be used to diagnose a metabolic defect or to monitor treatment of aminoacidurias. Secondary abnormalities are very common. Urinary mucopoly- and oligosaccharide screen Urine mucopolysaccharide screening tests uses 2-D electrophoresis to detect greatly elevated levels of glycosaminoglycans in mucopolysaccha- ridoses.

Additionally, thin-layer chromatography is performed to identify the oligosaccharidoses including mannosidosis and fucosidosis. Some urinalysis test strips have an appropriate indicator square. Urine creatinine, creatine, and guanidinoacetate Disorders of creatine metabolism may be suspected from a low serum creatinine concentration.

Blood pH and base excess This is usually assayed on arterial blood in the intensive care unit ICU setting, but a well-perfused capillary sample is adequate for routine testing. Acidosis may accompany many metabolic conditions, notably mitochon- drial cytopathies, organic acidopathies, and catabolic states.

Alkalosis may accompany hyperammonaemia. Free and acyl carnitine Carnitine is required for the transport of long chain fatty acids FACs as acyl coenzyme A esters across the mitochondrial membrane for FAC oxi- dation. Low levels occur with primary defects or secondary to other causes.

Acyl carnitines are toxic esters of carnitine produced in the transport and metabolism of FAs: raised levels occur in FAC oxidation defects and organic acidaemias. Either urine organic acids in acute episodes or acylglycines should be analysed. It is important that the laboratory has appropriate quality assurance procedures in place.

Vacuolated lymphocytes Indicative of a lysosomal disorder requiring further characterization. Alder—Reilly granules Dense metachromatic granules resembling toxic granulations seen in leuco- cytes in mucopolysaccharidoses. A small number of acanthocytes may be seen in other forms of severe haemolytic anaemia, particularly after splenectomy. For the laboratory to interpret the levels of the volume of added blood must be accurately known: this is usually done by pre-weighing the tube. Check local arrangements. Spurious elevations of plasma lactate levels are common e.

Karyotype analysis Cells are cultured and stained. Metaphase spreads are selected, and the chromosomes are arranged in descending order by size and compared with a standard. Both size and staining pattern are included in the analysis. Techniques constantly improve in terms of the types of staining available, and the analysis is now often computerized. This often makes it worth repeating the test if it has not been done for some years. Fluorescent in situ hybridization Fluorescently labelled DNA probes are used to detect the presence of sequence abnormalities or absence of normal sequences below the resolution of routine cytogenetics.

Comparative genome hybridization This technique is becoming increasingly available and may replace routine karyotyping in the near future. Balanced rearrangements, inversions or other rearrangements that do not alter total copy number will not be detected. Likewise this technique will not identify sequence mutations. DNA testing An increasing number of probes are available to aid clinical work e. Probes are also available rou- tinely to look for common mitochondrial DNA deletions see b p. Hundreds of tests are now available at high cost! The exome comprises the sum of the exons, the transcribed segments comprising Cannulate and draw baseline lactate and ammonia.

Stop and maintain the cuff for 1 min, then release the cuff, and take blood for lactate and ammonia at 2 and 12 min. Transferrin is a sensitive and convenient marker, secreted by the liver and normally present in different isoforms due to dif- ferences in glycosylation. The presence of abnormal isoforms indicates the possibility of. Very long chain fatty acids Most peroxisomal disorders can be detected by an accumulation of very long chain fatty acids VLCFAs.

Elevated VLCFAs, often with raised pipecolic and phytanic acid levels, imply either peroxisomal biogenesis or oxidation disorders. Decreased red blood cell RBC plasmalogens imply biogenesis defects; normal plasmalogens imply oxidation or mild biosyn- thesis defects. Consider testing especially where there is hypotonia, severe infan- tile epilepsy, alopecia, rashes, and hearing loss. Check with the laboratory. Neuropathic Fibre type grouping. Electron microscopy Ultrastructural change, e. Fibroblast cultures can be established from skin taken immediately post-mortem.

Take sample aseptically to include the full thickness of the dermis. Take a small sample a few millimetres in diameter to prevent necrosis of the centre of a larger sample. Liaise with the laboratory as this could depend on the reason for the biopsy, e. Avoid iodine- containing compounds such as betadine as these interfere with cell growth in culture.


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Muscle biopsy The following applies to needle biopsies. Although the technique is relatively simple, success depends on obtaining several samples of adequate size from a single insertion site.

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Subsequent specimen processing should only be done by laboratory technicians familiar with the techniques. Intrathecal medicine Inadvertent intrathecal injection of cytotoxics intended for intravenous use in the treatment of acute lymphoblastic leukaemia has been a repeated cause of medical tragedy. Intrathecal cytotoxics should only be given by paediatric oncologists in a dedicated setting. In neurological practice, the only indication is intrathecal instillation of antibiotics typically vancomycin into, or sampling from, external ventricular drains EVDs.

Shunt tap This should ideally only be performed by a neurosurgeon as different shunt designs have different access points and some are not suitable for tapping Figure 2. However, if this is not possible, the following show access sites. Reservoir tap and pump here Needle Inlet guard Outlet occluder occluder.

One-way Flow valve Flow a Heyer—Schulte valve. Silastic pump chamber pump here. Reproduced from Greenberg, MS. Handbook of Neurosurgery, 5th edition. Thieme International, New York, with permission. Reservoir Outlet Inlet tap and Pressure dots occluder occluder pump here. Silastic dome tap here. Neuropsychological testing The use of standardized neuropsychological tests can support both diag- nosis and rehabilitation planning. Neuropsychological testing complements and supplements assessment by an educational psychologist.

Modules may be differentially vulnerable at different developmental stages. The overall IQ score is a summary of several aspects of cognitive function. Visuomotor functioning Closely related to visual item perception and visuospatial processing, visuomotor functioning adds a manipulation or graphomotor component to the perceptual tasks. Social-emotional functions These are particularly important in children with non-verbal learning disabilities. What do the results mean? Discuss with your clinical psychology service. See Table 3. Table 3. Assessment The key question is whether there is any confusion or impairment of con- sciousness: the hallmark of an acute confusional state.

A spectrum is seen from mild impairment to near unconsciousness. Abnormalities in all areas of cognition are present. This has two components. Are you at home? Morning or afternoon? Orientation cannot be assessed in very young children. Formal tests of orientation e. Acute management One of many important reasons for correctly distinguishing an acute con- fusional state from emotional reaction is the very different approach to management.

Emotional reactions will be managed by verbal de-escalation. However attempts to argue, persuade, or cajole a child with an acute con- fusional state will be counter-productive. For investigation and management of acute confusional state see b p. Back pain Always a cause of concern in childhood and adolescence. If there is no response to intravenous IV antibiotics, consider needle aspiration.

Always consider tuberculosis TB. The pain is worse on raising the leg. Seen in gymnasts and rugby players. Increased with hyperextension activities such as gymnastics, ballet, skating. Treatment—symptomatic, but if there is no improvement, may need surgery. Intra-abdominal causes Pyelonephritis, retrocaecal appendix, pancreatitis. Recent onset after period of normality? Home and school? Formulation A response to environment? A child under pressure?

Biologically mediated? A mixture of environment and biologically-mediated disorders? Each dimension needs assessment and appropriate intervention. The child may be angry and resentful, irritable and easily annoyed, and deliberately annoying other people. Conduct disorder The child shows a persistent tendency to transgress normally accepted rules or the rights of others. Some authorities denote this combination disorders of attention, motor processing and perception DAMP. Cerebral malformations, especially subtle ones.

Early oro- motor problems. Repeated hospital admissions. In order of diagnostic yield: face, then hands, then skin. Otherwise, depending on severity of the delay, although subtle abnormalities are being increasingly found with high resolution scans. At least different genes. As the child will usually be young, the motor problem usually predominates and delay in other areas language, etc. Less common causes include hypothyroidism, Prader—Willi, cord lesions and neuromuscular conditions, such as spinal muscular atrophy SMA , con- genital muscular dystrophy, and hereditary sensorimotor neuropathies.

Opportunistic observation of quality of movement in free play will often be more informative than attempted formal motor examination. Observe for asymmetry or stiffness, and identify the limbs affected. Central or peripheral lesion pattern? Language is more than speech, and requires both verbal and non-verbal skills to permit social communication. A neurologist can seek associated neurological conditions.

Ask the child to repeat strings of sounds e. Irrespective of the nature of the problem, a cognitive assessment will inform prospects of a child communicating verbally or with an assistive device. Estimate of overall intelligibility of speech. Additionally includes Rett syndrome and childhood disintegrative disorder very rare. They vary in quality and complexity, and should only be used by those familiar with their usage and limitations.

Did he explore? Go off on tangent? Is it truly imaginative or role-play? Exercise limitation and muscle pain These are relatively common complaints, but actual pathology is uncommon. Distinguish tiring and wanting to stop after a short distance, common in many neuromuscular and other conditions, from true fatigue: the devel- opment of or increase in weakness with exercise. Causes Non-neuromuscular causes, such as post-viral illness are common. Also consider non-neurological causes, such as arthropathy. Neuromuscular causes in children include the following.

History Exercise limitation Try and understand why this is happening. Involvement of other systems Cardiomyopathy. Examination Look at the neuromuscular section for more detail see b p. Eye movement abnormalities Disorders of ocular movement disturb conjugate eye movements that main- tain binocular vision. The key question to ask is whether this is a paralytic or non-paralytic squint, which is the same as asking: 2 Is each eye considered separately capable of a full range of movement?

If the answer to this question is yes, this is a non-paralytic squint—a failure of coordination of the movements of each eye and by far the most common cause of non-conjugate eye movements. Ocular align- ment is poor in newborns. Predisposing factors include very low birth weight, intraventricular or occipital-parietal haemorrhage, hydrocephalus, and trisomy In neurologically normal children, squint is caused by genetic factors, intra- ocular anatomy or extra-ocular muscle conditions.

A common cause is a unilateral refractive error commonly long-sightedness. Squint types and ophthalmological jargon! Manifest heterotropia Constant. Incomitant The relative angle between the eyes the extent to which misalignment is evident varies as the eyes move. Paralytic squint Amongst acquired third, fourth, and sixth cranial nerve palsies, in isolation or combination, trauma is the most common cause, followed by tumour.

Ptosis Drooping of one or both eyelids from birth is common. It is essential to distinguish congenital from acquired; look at baby photographs. Noonan, Saethre—Chotzen. Improvement in the ptosis i. Nystagmus Involuntary, rhythmic oscillation of the eyes, in which at least one phase is slow.

Always consider toxicity. Physiological High frequency 1—3 Hz , low amplitude, at extremes of lateral gaze i. Cocaine eye drops are no longer readily available. Important causes of acquired lesions include the lateral medullary syndrome occlusion of the posterior inferior cerebellar artery causing ipsilateral ataxia, XII lesion, and contralateral disruption of spinothalamic function, see Figure 2. All cases of Horner syndrome require MR imaging.

This must include the en- tire course of the sympathetic tract from medulla to upper thorax. A pattern of uncontrolled saccades, i. A feature of eye-movement disorders of cerebellar origin. Often disappear in sleep. Usually have family history. If continuous, represents a form of epilepsia partialis continua a feature of Rasmussen encephalitis see b p. Myokymia Involuntary rippling movements often in the cheeks due to intrinsic pontine lesions usually demyelination or paraneoplastic.

Very rare. Hemifacial spasm Intermittent twitching of facial muscles. Exclude structural lesions of the cerebello-pontine angle. Also a feature of gelastic seizures due to hypoth- alamic hamartoma. Very rare in children. Facial weakness Table 3. This condition is due to hypoplasia of the depressor angularis oris muscle and results in an inability to pull down one corner of the mouth resulting in an asymmetric crying face and is usually obvious within hours of birth. A small number are associated with cardiac abnormalities, but most commonly it is a benign incidental condition that is less obvious in older childhood less time crying!

Supranuclear facial weakness Voluntary facial movement e. Spontaneous involuntary facial expres- sion of emotion has different, subcortical origins, and can be selectively preserved. Involvement of hearing either loss or hyperacusis due to involvement of the nerve to stapedius is unavoidable. Loss of tearing from the ipsilateral eye implies lesion is proximal to this. Some authorities recommend empiric use of aciclovir e. It is, of course, clearly indicated in situations where a herpetic aetiology seems probable.

Facial sensation abnormalities This can be divided into numbness or pain, or a combination of both Table 3. All are very rare as isolated symptoms in children. See Figure 3. London: NICE. Available from mouse symbol www. Reproduced with permission. V1 C2 C2 V1. C3 V2 V2. Weakness implies a peripheral cause. In the majority of infants, the cause is central. Infants with peripheral hypotonia may be more at risk of hypoxic—ischaemic encephalopathy causing an additional, central problem. May have typical bell-shaped chest from paradoxical breathing diaphragm relatively spared, weak intercostal muscles.

May have visible tongue fasciculations. Fukayama muscular dystrophy. Consider hypoxic-ischaemic insult, intraventricular haemorrhage, periventricular leukomalacia, developmental brain malformations, congenital infection check for hepatosplenomegaly. Check glucose. Foot deformities Causes Numerous foot deformities are described: some have no neurological basis and can be idiopathic or familial. Some are more commonly associated with particular neurological or other disease. However, almost any neuromuscular condition can be associated with any foot deformity and a thorough neurological examination should be performed for all cases.

Medical attention is often not sought until the episodes have been inde- pendently witnessed, typically by a parent or teacher. Its clinical manifestations may include paroxysmal changes in motor, sensory, or cognitive function. In principle, there are very few phenomena that cannot be due to seizures, which complicates assessment. Children with behavioural or developmental concerns are commonly referred—is any of it an epilepsy? Seizures are typically brief—seconds to a minute. Phenomena lasting or developing over tens of minutes are less likely to be ictal: depending on the pheno- menology, it may be worth considering a primary headache disorder see b p.

History How many different types of events are being seen? What is the relationship to sleep? How long? Point out the second hand on the clinic clock to help them estimate. Older children can usually report whether they retain awareness e. Confusion, aphasia, or slurred speech. Lateralized or focal weakness.

Headache may be associated with epilepsy, sometimes making it hard to distinguish migraine. Video footage of phenomena can be immensely helpful. Assessment Identifying a context in which events occur can be very helpful in the recog- nition of a wide range of non-epileptic childhood paroxysmal events, many of which are benign normal variants.

See Tables 3. National Institute for Health and Clinical Excellence Available from www. Funny turns: likely epilepsy? However, the risks of false-positive diagnosis are almost certainly higher. Families must be helped to understand the importance of avoiding premature conclusions. Epilepsy vs. It is more useful to know how the event started than how it ended. Unfortunately the onset of the episode is also the least likely phase to have been observed. Photosensitivity is usually routinely sought in EEG studies. There is no such thing as epilepsy. There are epilepsies. This enables rational decisions about the need for further investigation e.

Paediatric Haemotology and Oncology Oxford Specialist Handbooks in Paediatrics

Aetiology and syndrome are discussed further in Chapter 4 see b p. False positive rates are even higher in children with a cerebral palsy, etc. What seizure types are occurring? Either, they have GTCs together with other possibly unrecognized seizures e. Myoclonic seizures are isolated lightning-fast, brief contractions occurring singly or in short runs, with full muscle relaxation between. Spasms sometimes referred to as tonic spasms have a slightly longer phase of sustained contraction than a myoclonic jerk and typically occur in runs.

They occur as infantile spasms but also in older children. Distinguishing these seizure types may be challenging clinically, and is a particularly important purpose of EEG.

Oxford Handbook of Paediatrics

Stiff Usually a tonic seizure sustained contraction for several seconds. Finally a child can be thrown to the ground by a large myoclonic seizure. In some seizures these are combined, as in myoclonic-atonic also known as myoclonic-astatic seizures. Many centres now use surface EMG alongside EEG in order to determine whether, and for how long, there is muscle contraction associated with a seizure.

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