NEUROLOGICAL DISORDERS
Anna Kosmowska
HEDACHE
Frequent reason for older children and adolescents to consult a doctorIHS:PRIMARY H.: MIGRAINE, TENSION-TYPE HEADACHE, CLUSTER HEADACHESECONDARY H.: -HEAD OR NECK TRAUMA, -CRANIAL OR CERVICAL VASCULAR DISORDER – VASCULAR MALFORMATION OR INTRACRANIAL HAEMORRHAGE-NON-VASCULAR INTRACRANIAL DISORDER – RAISED INTRACRANIAL PRESSURE, IDIOPATHIC INTRACRANIAL HYPERTENSION-ALCOHOL, SOLVENT, DRUG ABUSE-INFECTION – MENINGITIS, ENCEPHALITIS-HYPERCAPNIA, HYPERTENSION-ACUTE SINUSITIS-PSYCHIATRIC DISORDER
TENSION-TYPE HEADACHE
Symmetrical headache of gradual onsetDescribed as tightness, a band or pressureUsually no other symptoms
MIGRAINE WITHOUT AURA
90% of migreneIn children episodes may last 1-72hBilateral or unilateralPulsatile – temporal or frontal areaAccompanied – nusea, vomiting, abdominal pain, photophobia
MIGRAINE WITH AURA
10% of migraineHeadache is preceded by an aura (visual, sensory, motor)Last for a few hours, during which time children prefer to lie down in a quiet, dark place
TRIGGERS
STRESSFOODMENSTRUATIONEMOTIONAL OR BEHAVIOURAL PROBLEMS ALCOHOL, DRUGS
HEADACHES OFTEN RAISE THE FEAR OF BRAIN TUMOURS
RED FLAG SYMPTOMS
HEADACHE – WORSE LYING DOWN OR WITH COUGHING AND STRAININGHEADACHE – WAKES UP CHILDASSOCIATED CONFUSION, MORNING OR PERSISTANT NUSEA OR VOMITINGRECENT CHANGE IN PERSONALITY, BEHAVIOUR OR EDUCATIONAL PERFORMONACE
RED FLAG PHYSICAL SIGNS – SPACE-OCCUPYING LESION
GROWTH FAILUREVISUAL FIELD DEFECTS – CRANIOPHARYNGIOMASQUINTCRANIAL NERVE ABNORMALITYTORTICOLLISABNORMAL COORDINATION – FOR CEREBELLAR SIGNSPAPILLOEDEMA OF THE SECOND CRANIAL NERVEBRADYCARDIACRANIAL BRUITS – ARTERIOVENOUS MALFORMATION
RESCUE TREATMENTS
PARACETAMOL AND NON-STEROIDAL ANTI-INFLAMANTORY DRUGS (NSAIDs)ANTI-EMETICSSEROTONIN AGONISTS e.g SUMATRIPTANBETA-BLOCKERS – PROPRANOLOLPSYCHOLOGICAL SUPPORTRELAXATION
SEIZURES
Is a clinical event in which there is a sudden disturbance of neurological fuction caused by an abnormal or excessive neuronal discharge.May by epileptic or non-epileptic.
NON-EPILEPTICFEBRILE SEIZURESMETABOLIC – HYPOGLYCAEMIA, HYPOCALCAEMIA, HYPOMAGNESAEMIA, HYPO/HYPERNATRAEMIAHEAD TRAUMAMENINGITIS / ENCEPHALITISPOISONS / TOXINS
EPILEPSY
IDIOPATHIC (70-80%) - CAUSE UNKNOWN BUT PRESUMED GENETICSECONDARY:-CEREBRAL DYSGENESSIA/MALFORMATION -CEREBRAL VASULAR OCCLUSION -CEREBRAL DAMAGE e.g congenital infection, hypoxic-ischaemic encephalopathy, intraventricular haemorrhageCEREBRAL TUMOURNEURODEGENERATIVE DISORDERSNEUROCUTANEOUS SYNDROMES
FEBRILE SEIZURES
Affect 3% of childrenHave a genetic predispositionOccure between 6 months and 6 years of ageAre usually brief, generalised tonic-clonic seizures occurring with a rapid rise in feverIf a bacterial infection, especially meningitis, is present, it needs to be identified and treatedAdvise family about management of seizures, consider rescue therapy – rectal diazepamOral prophylactic anti-epileptic drugs are not usedAn EEG is not indicatedIf simple – does not affect intellectual performance or risk of developing epilepsyIf complex, 4-12% risk of subsequent epilepsy
CHILDREN WITH PAROXYSAML DISORDERS FUNNY TURNS
BRETAH-HODING ATTACS – TEMPERREFLEX ANOXIC SEIZURES – HEAD TRAUMA, COLD FOOD, FRIGHT, FEVERSYNCOPEMIGRAINEBENIGN PROXYSMAL VERTIGOOTHER CAUSES (cardiac arrythmia, ticks, pseudoseizures)
EPILEPSIES OF CHILDHOOD
Is a chronic neurological disorder characterised by recurrent unprovoked seizures, consisting of transient signs and/or symptoms associated with abnormal, excessive or synchronous neuronal activity in the brain.
GENERALISED SEIZURES
There is always a loss o consciousnessNo warningSymmetrical seizuresBilaterally synchronous seizures discharge on EEG or varying asymmetry
ABSENCE SEIZURES
MYOCLONIC SEIZURES
TONIC SEIZURES
TONIC-CLONIC SEIZURES
ATONIC SEIZURES
FOCAL SEIZURES
Onset in neural network limited to one cerebral hemisphereBegin in relative small group of dysfunctional neurones in one of the cerebral hemispheresMay be heralded by an aura which reflects the site of originMay or may not be associated with change in consciousness or more generalised tonic-clonic seizure
FOCAL SEIZURES
FRONTAL SEIZURES – MOTOR PHENOMENATEMPORAL LOBE SEIZURES – AUDITORY OR SENSORY (SMELL OR TASTE) PHENOMENAOCCIPITAL – POSITIVE OR NEGATIVE VISUAL PHENOMENAPARIETAL LOBE SEIZURES – CONTRALATERAL ALTERED SENSATION (DYSAESTHESIA)
INVESTIGATION OF SEIZURES
EEG but …Many children with epilepsy have a normal initial EEGAnd many children who will never have epilepsy have EEG abnormalitiesEEG as add suportive evidenceStandard/ a sleep/ sleep-deprived record/ 24h-EEG/ videoEEGMRICTMetabolic investigationsGentic studies
ANTI-EPILEPTIC DRUG THERAPY(AED)
…to treat or not to terat...It is common practise not to institute treatment after a single unprovoked seizureNot all seizures require AED therapyThe decision should be based on the seizure type, frequency and social and educational consequences of seizures set against the possibility of unwanted effects of the drugAll AEDs have potential unwanted effects
COMMON AEDs
ValproateCarbamazepine/oxcarbazepineVigabatrinLamotrigineEthosuximideTopiramateGabapentinLevetriacetamClonazepam, diazepam
SPINAL MUSCULAR ATROPHY TYPE 1WERDNIG-HOFFMANN DISEASE
ACUTE POST-INFECTIOUS POLYNEUROPATHYGUILLAIN-BARRE
SYNDROME
MYASTHEMIA GRAVIS
DUCHENNE MUSCULAR DYSTROPHY
FRIEDRICH ATAXIA
ATAXIA TELAGIECTASIA
This disorder of DNA repairARGene ATM has been identifiedMild delay in motor development in infancyOculomotor problemsDifficulty with balance and coordination becoming evident at school ageDeterioration with a mixture of dystonia and cerebellar signsMany children require a wheelchairTelangiectasia develops in the conjunctiva, neck and shouldersIncreased susceptibility to infectionMalignant disorders – ALL
CEREBELLAR ATAXIA
CAUSES – MEDICATION, DRUGS, VARICELLA INFECTION, POSTERIOR FOSSA LESION OR TUMORS, GENETIC AND DEGENERATIVE DISORDERS e.g FRIEDRICH ATAXIA AND ATAXIA TELANGIECTASIA
EXTRADURAL HAEMORRHAGE
HEAD TRAUMASKULL FRACTUREARTERIAL OR VENOUS BLEEDING INTO THE EXTRADURAL SPACELUCID INTERVAL UNTIL THE CONSCIOUS LEVEL DETERIORATES, WITH SEIZURESFOCAL NEUROLOGICAL SIGNSDILATATION OF THE IPSILATERAL PUPILPARESIS OF THE CONTRALATERAL LIMPSCTEVACUATION OF THE HAEMATOMAARREST OF THE BLEEDING
SUBDURAL HAEMATOMA
THIS IS RESULTS FROM TEARING OF THE VEINS AS THEY CROSS THE SUBDURAL SPACESUBDURAL HAEMATOMA AND RETINAL HAEMORRHAGES IN AN INFANT – CONSIDER NON-ACCIDENTAL INJURY CAUSED BY SHAKING OR DIRECT TRAUMA
SUBARACHNOID HAEMORRHAGE
Much more common in adultsAcute onset of head painNeck stiffnessOccasionally feverCT scan – blood in CSFThe cause is often an aneurysm or AVMMR angiography, CT or convetional angiography
NEURAL TUBE DEFECTS
ANENCEPHALY
ANENCEPHALY
NEURAL TUBE DEFECTS
SPINA BIFIDA OCCULTA
HYDROCEPHALUS SETTING-SUN SIGN
VENTRICULOPERITONELA SHUNT FOR DRAINAGE
NEUROCUTANEUS SYNDROMES
NEUROFIBROMATOSISTUBEROUS SCLEROSISSTRUGE-WEBER SYNDROME
NF1
● This affects 1 in 3000 live birthsAD or new mutation6 or more cafe-au-lait spots > 5mm in size before puberty, >15mm after pubertyMore than one neurofibromaAxillary frecklesOptic gliomaOne Lisch nodule, a hamartoma of the iris (slit-lamp examination)Bony lesions from sphenoid dysplasiaA first degree relative with NF1
NF
TUBEROUS SCLEROSIS
THE CUTANEOUS FEATURES CONSIST OF:-DEPIGMENTED ASH LEAF-SHAPED PATCHES-SHAGREEN PATCHES-ANGIOFIBROMATANEUROLGICAL FEATURES-INFANTILE SPASM AND DEVELOPMENTAL DELAY-EPILEPSY
TUBEROUS SCLEROSIS
STURGE-WEBER SYNDROME
Sporadic disorder with a haemangiomatous facial lesion (a port-wine stain) in the distribution of the trigeminal nerve associated with a similar lesion intracranially.
CAUSES OF FLOPPY INFANT
CORTICAL – HYPOXIC-ISCHEMIC ENCEPHALOPATHYGENETIC – DOWN SYNDROME, PRADER-WILLI SYNDROMEMETABOLIC – HYPOTHYROIDISM, HYPOCALCAEMIANEUROMUSCULAR – SPINAL MUSCULAR ATROPHY, MYOPATHY, MYOTONIA, CONGENITAL MYASTHENIA
NEURODEGENERATIVE DISORDERS
TAY-SACHS DISEASEGAUCHER DISEASENIEMANN PICK DISEASEMUCOPOLYSACCHARIDOSES-MPSI = HURLER-MPSII = HUNTER-MPSIII = SANFILIPPO-MPSIV = MORQUIO-MPSVI = MAROTEAUX-LAMY
TAY-SACHS DISEASE
ENZYME DEFECT – HEXOSAMINIDASE AAR DISORDERMOST COMMON AMONG ASHKENAZIS JEWSDEVELOPMENTALREGRESSION IN LATE INFANCYSEVERE HYPOTONIA, ENLARGING HEADCHERRY RED SPOT AT THE MACULADEATH BY 2-5 YERSDIAGNOSIS MEASUREMENT OF THE SPECIFIC ENZYME ACTIVITYPRENEATL DETECTION IS POSSIBLE IN HIGH-RISK COUPLES
TAY-SACHS DISEASE
GAUCHER DISEASEENZYME DEFECT – BETA-GLUCOSIDASEOCCURS IN 1 IN 500 ASHKENAZIS JAWSCHRONIC CHILDHOOD FORM – SPLENOMEGALY, BONE MARROW SUPPRESSION, BONE INVOLVEMENT, NORMAL IQENZYME REPLACEMENT THERAPY IS AVAILABLEACUTE INFANTILE FORM – SPLENOMEGALY, NEUROLOGICAL DEGENERATION WITH SEIZURES
GAUCHER DISEASE
CLINICAL FEATURES OF MUCOPOLYSACCHARIDOSES
CLINICAL FEATURES OF MUCOPOLYSACCHARIDOSES
Corneal clouding, retinal degeneration, glaucomaThickened skinValvular lesion, cardic failureDevelopmental regressionThickened skull, broad ribs, thoracic kyphosis, lumbar lordosisHepatosplenomegalyConductive deafnessUmbilical and inguinal hernias
NIEMANN-PICK DISEASEENZYME DEFECT – SPHINGOMYELINASEAT 3-4 MONTHS, FEEDING DIFFICULTIES, HEPATOSPLENOMEGALY, DEVELOPMENTAL DELAY, HYPOTONIA AND DETERIORATION OF HEARING AND VISIONCHERRY RED SPOT IN MACULA AFFECT 50%
NIEMANN-PICK DISEASE
WILSON DISEASEFROM THE ACCUMULATION OF COPPER, MAY CAUSE CHANGES IN BEHAVIOUR AND ADDITIONAL INVOLUNTARY MOVEMENTS
OR A MIXTURE OF NEUROLOGICAL AND HEPATIC SYMPTOMS.