3. • Νήπιο άρρεν 20 μηνών : πτώση από μικρό ύψος , έναρξη
κλάματος, κράτημα αναπνοής, ερυθρότητα, κυάνωση προσώπου,
υποτονία, απώλεια αισθήσεων για δευτερόλεπτα και τελικά
ανάληψη αισθήσεων.
• Μετά το επεισόδιο λίγο ήσυχος και τελικά επάνοδος πλήρης
στην προηγούμενη κατάσταση.
Κύηση κφ
Τοκετός κφ
Νοσηλείες Όχι
Νοσήματα Ιώσεις
Κλινική εξέταση κφ
Νευρολογική/
Αναπτυξιακή εκτίμηση
κφ
Οικογενειακό ιστορικό ελεύθερο
Έλεγχος
Οδηγίες
?
6. • “The onset of a breath-holding spell may be from some mysterious terror or a
fright from somebody shouting, or in the midst of crying the child is not able
quickly to recover his breath, as often happens to children; but when any of
these things happen to him, at once the body is chilled, he becomes speechless,
does not draw his breath, the breathing fails, the brain stiffens, the blood is at a
standstill.”
• Hippocrates
7. 0,1%-4,6%, υγιών παιδιών 6μ-5 ετών.
6-18μ, σχεδόν πάντα πριν τα 2 έτη,
θετικό οικογενειακό ιστορικό
αυτοσωμική επικρατής κληρονομικότητα με χαμηλή
διεισδυτικότητα σε σοβαρά ΚΑ
16p11.2 microdeletion syndrome and Riley-Day
syndrome κα
Τύποι
Κυανωτικά : εκνευρισμός 72%
Λευκά: αιφνίδιος τρόμος,
τραυματισμός κεφαλής ήπιος
Μικτά
Ποια παιδιά αφορά ?
>
Έντονη φλοιική δραστηριότητα όταν οι αναπνευστικοί μύες
χρησιμοποιούνται για να εκφράσουν έντονο θυμό
9. Που οφείλονται?
1. Δεν είναι σκόπιμα
2. Αποτέλεσμα ακούσιου αντανακλαστικού
3. Απορρύθμιση του Αυτόνομου Νευρικού Συστήματος
1. Higher resting heart rate and diastolic blood pressure,
2. Hypersensitive reactivity of pupils,
3. Respiratory sinus arrhythmia,
4. Parasympathetic hyperactivity (pallid spells) ,
5. Delayed myelination of the brain stem
6. Dysregulation of the oxidant and antioxidant systems
7. Selenium deficiency
8. Iron deficiency anemia or iron deficiency
9. Long QT
10. Disturbed parent-child relationship
11. Temperamental characteristics
12. Valsalva maneuver, which may occur with breath-holding spell, there is right-to-left shunting of blood across
the foramen ovale
11. tongue-biting and incontinence
interictal electroencephalogram
Κράτημα αναπνοής Επιληπτική κρίση
Εκλυτικός παράγοντας + -
Κλάμα + -
Ύπνος - +
Ηλικία έναρξης 6μ-5ετ Οποιαδήποτε
Κυάνωση/ωχρότητα Πριν από ΑΣ Μετά από ΑΣ
Καρδιακός ρυθμός Βραδυκαρδία Ταχυκαρδία
Διάρκεια <1λεπτό >1λεπτό
Οικογενειακό ιστορικό +/- ++/-
Δάγκωμα γλώσσας,
απώλεια ούρων
- +
Μεσοκρισικό ΗΕΓ Κφ Συχνά παθολογικό
Μετακριτική υπνηλία +/- ++
12. Ποιος έλεγχος χρειάζεται?
Γ. αίματος, φεριτινη
ΗΚΓ (συχνά και σοβαρά ΚΑ, ωχρά ΚΑ)
Όχι ΗΕΓ
Επιπλοκές?
Άγχος, κατάθλιψη,
ψυχολογικά προβλήματα
κυρίως στις μητέρες
Δεν υπάρχει συσχέτιση με
επιληψία ή
νευροαναπτυξιακές
διαταραχές
Σπάνια ακολουθούνται από
Status Epilepticus
Σπάνια εμφανίζουν
βαγοτονικά επεισόδια
αργότερα
Diverse Presentation of Breath Holding Spells: Two Case Reports with
Literature Review Case Rep Neurol Med. 2013; 2013: 603190.
13. Σιδηροπενική αναιμία ή σιδηροπενία
1. Μεταβολισμός
κατεχολαμινών
2. Συμπαράγοντας σε ένζυμα
και νευροδιαβιβαστές
1. Παροδική
ερυθροβλαστοπενία
2. Σιδηροβλαστική αναιμία
7.5 to 69% των παιδιών με ΚΑ έχουν αναιμία
14. • Loss of consciousness
• Spells that persist and occur beyond 6 years of age
• Family history of spells, LQTS, arrhythmia, or sudden death
15. Ποιες οδηγίες δίνουμε?
Καθησυχάζουμε την οικογένεια
Συμπλήρωμα σιδήρου με 3mg/ΒΣ Χ12 εβδομάδες, πιθανότατα και σε παιδιά χωρίς σιδηροπενία
1. Atropine sulfate, 0.01 mg/kg/day (maximum 0.4 mg)/2 for severe pallid breath-holding spells
2. Glycopyrrolate, an synthetic anticholinergic compound,
3. Fluoxetine
4. Cardiac pacemaker implantation/ severe bradycardia
5. Piracetam (40 to 50 mg/kg/day in two divided doses), a cyclic derivative of gamma-aminobutyric acid (GABA)
6. Oral melatonin at a dose of 0.08 mg/kg once a day
7. Theophylline
8. Levetiracetam
Zehetner AA, Orr N, Buckmaster A, Williams K, Wheeler DM. Iron supplementation for breath-holding attacks
in children. Cochrane Database Syst Rev 2010; (5): CD008132
Απομύζηση του ΟΛ ή καθυστερημένη απολίνωση ΟΛ
16. The patient's presentation is consistent with a diagnosis of migraine without aura.
Migraine without aura is defined as a headache fulfilling two major criteria of
bifrontal or unilateral, throbbing, moderate-to-severe intensity pain, and worsening with
activity or relief with rest; and one minor criteria of photophobia,
phonophobia, nausea, and vomiting.
A 15-year-old female presents to your office with eight headaches per month over the last 6 months
that typically last hours to 1 day. The headache is described as bifrontal, throbbing, and severe, with
associated light sensitivity and nausea. She denies vision changes or other neurologic symptoms with
headaches. She states that her headaches typically resolve with use of OTC pain relievers and she will
also lie down in her room with the lights off and sleep. She has a past medical history notable for
motion sickness, and there is a family history of maternal relatives with headaches attributed to
sinusitis. Her neurologic examination is non-focal.
What is the most likely diagnosis based on the patient's clinical history and examination?
17. Diagnostic criteria:
A. At least five attacks fulfilling criteria B–D
B. Headache attacks lasting 4–72 hours (when untreated
or unsuccessfully treated)
C. Headache has at least two of the following four
characteristics:
1. unilateral location
2. pulsating quality
3. moderate or severe pain intensity
4. aggravation by or causing avoidance of routine
physical activity (e.g. walking or climbing stairs)
D. During headache at least one of the following:
1. nausea and/or vomiting
2. photophobia and phonophobia
E. Not better accounted for by another ICHD-3 diagnosis.
1.1 Migraine without aura
18.
19. Genetic testing has demonstrated mutation on
the CACNA1A, ATP1A2 or SCN1A genes.
Familial hemiplegic migraine very often
presents with brainstem symptoms in addition
to the typical aura symptoms, and that
headache almost always occurs. Rarely, during
FHM attacks, disturbances of consciousness
(sometimes including coma), confusion, fever
and cerebrospinal fluid (CSF) pleocytosis can
occur
20. An 11-year-old boy presents to your office with worsening headaches over the last month. The family
denies clear triggers for the headaches, although mentions the patient recently completed end of semester
testing at school and one of his best friends moved away. He describes his headaches as bifrontal or diffuse
with a squeezing type of pain and phonophobia. He denies photophobia, nausea, vomiting, visual
disturbance, or other focal neurologic symptoms with his headaches. The family history is unremarkable.
His neurologic examination is non-focal, but notable for neck muscle tension.
What is the most likely diagnosis based on the patient’s clinical history and examination?
This patient is presenting with a tension-type headache, likely worsened in the
setting of school-related stress and a transition with a close friend moving away.
Recall that a TTH is defined as a headache fulfilling at least two major
criteria of bilateral location, pressing, tightening, and nonthrobbing quality, mild-to-
moderate intensity, and lack of exacerbation by activity. Either photophobia or
phonophobia may be present, but not both, and nausea/vomiting is less typical.
21. 2.1 Infrequent episodic tension-type headache
A. At least 10 episodes of headache occurring on <1per day per month on average (<12/per
year) and fulfilling criteria B-D.
B. Lasting from 30 minutes to seven days
C. At least two of the following four characteristics:
1. bilateral location
2. pressing or tightening (non-pulsating) quality
3. mild or moderate intensity
4. not aggravated by routine physical activity such as walking or climbing stairs
D. Both of the following:
1. no nausea or vomiting
2. no more than one of photophobia or phonophobia
E. Not better accounted for by another ICHD-3 diagnosis.1
22. A 17-year-old girl presents to your outpatient clinic for evaluation of refractory migraines.
She has experienced on average three migraines per month over the last 2 years; however
over the last 4 months, with the onset of the school year, her migraines have increased to
almost daily. She was previously seen 4 weeks ago by another provider in the practice and
had an MRI brain with and without contrast performed which was normal. There is a strong
maternal family history of migraine without aura and anxiety. She has been alternating
paracetamol and ibuprofen every 6 h over this time without relief. She denies any recent
fever, illness, or stressors.
She denies history of substance use.
Her neurologic examination is non-focal.
Medication overuse is common in children and should be screened for at each visit. This patient's use of daily
ibuprofen and tylenol for four consecutive months is consistent with this diagnosis and discontinuation of the
offending medications should be recommended, and consideration made to initiation of a daily preventive
headache medication.
23.
24.
25.
26. The AAN found that presence of the following
were predictive of the presence of a space-occupying
lesion:
1. Headache of less than 1-month duration,
2. Absence of family history of migraine,
3. Abnormal neurologic findings on examination,
4. Gait abnormalities, and
5. Occurrence of seizures