F-H Flashcards
(35 cards)
What are febrile seizures?
Seizure associated with fever, in child 6m-5y, peak age 1 ½ years.
Arise form infection or inflammation OUTSIDE the CNS in a neurologically normal child.
· Simple: Isolated, brief, generalize tonic clonic
· Complex: >15, focal, repeat seizure, incomplete recovery <1h
· Febrile SE: Duration >30min without
DDX: CNS infection, epilepsy.
What is the aetiology and epidemiology of febrile seizures?
Genetic: 50% concordance in monozygotic twins, FHx is a risk factor.
4% in West, 9% Japan
What may you find in the history and exam of a patient with febrile seizures?
Determine cause of fever (URTI, otitis, GI, UTI) check immunization status, TORCH. May occur after immunization (not a contraindication).
Assess cause of fever: respiratory and ENT examination
Exclude CNS infection: Kernigs sign, assess papillodema, headache and neck stiffness, drowsiness and irritability.
What investigations would you do for febrile seizures?
MSU, CXR, LP if suspect CNS Infection.
Bloods: glucose, UE, CRP and blood cultures if indicated.
What is the management of febrile seizures?
Seizure termination: most require no intervention. Rectal diazepam/buccal midazolam if persisting over 3-4min.
SE management protocol
Reassure and educate: controlling fever does not prevent the siezures, use of buccal midazolam in 3-4min persisting, ensure child comfortable if feverish, assess for dehydration, educate on preventing accidenta injury and seeking emergency help if SE.
Admit if first one, if uncertainty about cause, complex seizure, <18m, pretreatment with antibiotics (masked meningitis), very unwell, social circumstances.
Seizure prophylaxis (if hx of prolonged multiple seizures): diazepam on onset of febrile illness.
What is the complications and prognosis of febrile seizures?
Mesial temporal sclerosis -> prolonged febrile SE (>90min)
Recurrent: 1/3 of children recur, especially if young and FHx.
No developmental sequelae and only 1-2% develop epilepsy.
Low mortality, even in SE.
What is global developmental delay?
Significant delay (>2SD from mean) in >2 areas of development (motor, speech, social, cognition, activities). In child <5y.
What is the aetiology of global developmental delay?
Idiopathic in some. Secondary: intrapartum asphyxia, cerebral dysgenesis, chromosomal, genetic syndromes, psychosocial deprivation, periventricular leucomalacia (IVH), fetal alcohol syndrome.
Also consider metabolic (hypothyroid, IEMs), TBI, Pb poisoning, and congenital infection.
What is the epidemiology of global developmental delay?
1-3%. Most have impairment in all 5 domains.
What is the history of this global developmental delay?
Cosanguinuity, maternal drug use, maternal illness, social and economical status, FHx of delay. Assess whether delay, stagnation or regression.
What would be revealed in the examination of global developmental delay?
Growth parameters, history, assessment (Bailey/Griffith scales). Neuro examination.
Assess for dysmorphic/characteristic syndromic features:
· Low set ears, single palmar crease, etc: Downs
· Fragile X: large years, narrow face, strabismus, macro orchidism, gaze aversion
· TS: ash leaf macules (depigmentation) adenoma sebaceum (facial angiofibromas) and Shageen patch over sacrum/back.
· Angelman: prominent mouth, hypopigmented skin over eyes, strabismus, wide teeth.
· PWS: obesity, almond eyes, narrow foreheads, down turned mouth, small hands and feet.
What investigations would you do in global developmental delay?
· Chromosomal: If suspecting
· TFT
· Neuroimaging, especially if microcephaly (CIs, IEMs) or macrocephaly (FX, hydrocephalus)
· Metabolic testing, especially if regression and plasma/urinary abrnoamlities (VLFCA, lysozyme enzyme analysis, ammonia)
· EEG, seizure activity or regression (Rett, epileptic encephalopathy)
What is the management of global developmental delay?
MDT approach, educational, treatment or aid for individual abnormality. SALT, ortho, genetic counseling.
Investigation for comorbidities such as spinal XR and echo.
What is prognosis of global developmental delay?
Social complications. PGx varies with degree of impairment and condition. Some can become independent in life.
What is Hearing impairment?
Normal hearing at any frequency is any sound down to 20dB.
Conductive hearing impairment: lack of vibration conduction down ear canal, tympanic membrane or ossicles. Maximum loss (HL) is hearing anywhere in range of 20-60dB.
Sensorineural hearing loss: dysfunction of cochlear sensory component of auditory nerve. HL may be profound, may not hear sounds up to >90dB.
What is the aetiology of Hearing impairment?
Conductive:
· Canal: wax, FB
· Membrane: infection, chronic secretory otitis media, perforation, pressure changes in situations
· Ossicles: absent or defective ossicles (congenital)
· Eustachian tube malfunction in cleft palate or Downs syndrome.
Sensorineural:
· Genetic 50%: AR/AD, may be part of syndrome (Waardenburg)
· Intrauterine: 10% congenital infection rubella, CMV, HSV
· Perinata: HIE
· Postnatal: MMR, menin/encephalitis, neurodegeneration, aminoglycoisdes, loop diuretics, hyperBR
What is the epidemiology of Hearing impairment?
Severe 1/1000, moderate 2/1000, mild 1/100, usually glue ear.
What is the history and exam of Hearing impairment?
Does not respond to noise, commands, name, low language development, educational difficulties. FHx, consang, IU hx, pre and post natal complication. Otitis, URTI, allergy.
Look for dysmorphic features. ENT exam: wax, infection, perforation. Weber and Rinne tuning fork tests to distinguish C/S.
What are the investigations of Hearing impairment?
NHSNSP: automated otoacoustic emission test
Distraction test >4m: distracted by toy, noises in background, see if turns.
McCromicks toy distraction test>2y: phonetical induction, child identifies (i.e. duck)
Tympanogram: to see vibration in eardrum, mobility and conduction of tympanus
Audiomatry testing >5y: head and ear phones and move toy if you hear.
What is the management of Hearing impairment?
Conductive: CSOM requires grommets (plastic tubes), Myringoplasty if there is perforation, reconstruction of ossicles if there are abnormalities.
Sensorineural: Hearing aids or cochlear implants, auditory training, special school, lip reading and sign language, parental counseling, genetic counseling.
What are the complications and prognosis of Hearing impairment?
Delayed speech and language, school performance, behavioral problems.
Mostly treatable or self resolving. Sensorineural good if detected early and implement educational structure for child to adapt.
What is Hydrocephalus?
Excess CSF due to abnormal flow, production or absorption.
What is the aetiology of Hydrocephalus?
Obstructive: disruption in CSF flow in ventricles
· Acqueductal stenosis or atresia: congenital
· Obstructon of 4V: Dandy Walker syndrome (cystic dilation of 4V with cerebellar hypoplasia)
· Obstruction due to mass lesion: tumors of posterior fossa (medullo, astro, ependy), haematoma, vein of Galen aneurysm.
Communicating: disruption of flow of CSF in surface pathways
· Arnold Chiari malfmormations: herniation of cerebellar tonsils through FM +/- neural tube defects myelomeningocele (cord through posterior bony vertebral column defect) or cranial myelomeningocele (meningeal sac through skull defect)
· Elephancocele: protrusion of cerebral tissue through a midline cranial defect located in frontal or occipital regions.
· Meningeal adhesions: due to Hx of inflammation (meningitis) or haemorrage (IVH or SAH)
High CSF production: usually due to choroid plexus papilloma, very rare.
NF and FHx are risk factors.
What is the epidemiology of Hydrocephalus?
5/1000 live births.
