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Title: Neonatal Presentation of Congenital Central Hypoventilation


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Neonatal Presentation of Congenital Central
Hypoventilation Syndrome
Y. K. Abu-Osba, Miqdad H. Mukahhal Neonatal
Intensive Care Unit Jordan Hospital, Amman,
Jordan
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Presentation outline
  • Introduction.
  • Definition and diagnosis of CCHS.
  • Case presentation.
  • Summary.
  • Conclusions.
  • Recommendations.

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Neonatal Presentation of CCHS Background -1
  • The appropriate nomenclature for the disorder
    known as Ondine curse is congenital central
    hypoventilation syndrome (CCHS). The literary
    misnomer "Ondine's curse" has been used in prior
    literature.
  • In the story of Ondine, a German folk epic, the
    nymph Ondine falls in love with a mortal. When
    the mortal is unfaithful to the nymph, the king
    of the nymphs places a curse on the mortal. The
    king's curse makes the mortal responsible for
    remembering to perform all bodily functions, even
    those that occur automatically, such as
    breathing. When the mortal falls asleep, he
    "forgets" to breathe and dies.
  • Because Ondine did not actually curse the mortal
    (it was her king) and the approximately 300
    children worldwide with CCHS do not forget to
    breathe, the term Ondine's curse is a misnomer
    and should be avoided.

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Neonatal Presentation of CCHS Background -2
  • Classic congenital central hypoventilation
    syndrome (CCHS) is characterized by adequate
    ventilation while the affected individual is
    awake and by hypoventilation with normal
    respiratory rates and shallow breathing during
    sleep more severely affected individuals
    hypoventilate when both awake and asleep.
  • Children with CCHS often have physiologic and
    anatomic manifestations of a generalized
    autonomic nervous system dysfunction/dysregulation
    (ANSD) a subset have altered development of
    neural crest-derived structures (i.e.,
    Hirschsprung disease) and tumors of neural crest
    origin including neuroblastoma, ganglioneuroma,
    and ganglioneuroblastoma.

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Neonatal Presentation of CCHS Background -3
  • Recently, it has been recognized that some
    individuals with nocturnal alveolar
    hypoventilation, features of ANSD, and a
    polyalanine expansion mutation in PHOX2B
    characteristic of CCHS do not present until
    childhood or adulthood.
  • Its inherited in an autosomal dominant matter
    with 5 of them having an asymptomatic parent who
    has somatic mosaicism for a PHOX2B mutation.
  • Many individuals with CCHS who have been
    successfully ventilated are now in their 20s,
    suggesting the potential for a normal life span.

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Neonatal Presentation of CCHS Background -4
  • CCHS is diagnosed in individuals with the
    following
  • Hypoventilation with absent or negligible
    ventilatory sensitivity to hypercarbia and absent
    or variable ventilatory sensitivity to hypoxemia
  • Generally adequate ventilation while awake, but
    hypoventilation with normal respiratory rate and
    shallow breathing (diminished tidal volume)
    during sleep
  • Hypoventilation both while awake and asleep
  • Absent perception of asphyxia (i.e., absent
    behavioral awareness of hypercarbia and
    hypoxemia) and absent arousal
  • No evidence of primary neuromuscular, lung, or
    cardiac disease or identifiable brain stem lesion
    that might account for the constellation of
    symptoms

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Neonatal Presentation of CCHS Case report
Initial presentation
  • Rania and Abdallah were born by C/S after 36
    weeks of pregnancy (IVF-due to paternal history
    of Immotile Cilia Syndrome).
  • Their birth weight was 2.44 kg and 2.41 kg ,
    Apgar score was 5/6/7 at 1/5/10 minutes
    respectively.
  • Naloxone was given during resuscitation due to
    poor respiratory effort.
  • They were sent to nursery and observed closely
    after starting them on O2 by head box due to poor
    respiratory effort. Rest of their physical
    examination was normal.

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Neonatal Presentation of CCHS Case report
  • ABGs at one hour of age
  • Abd PH 7.004 , PaCO2 74.9 mmHg ,PaO2 107
    mmHg HCO3 18.4 mmol/l,BE-12.8 .
  • Ran PH 7.044, PaCO2 69, PaO2 68, HCO3
    18,BE -12.
  • They were admitted to NICU with poor respiratory
    effort and hypopnea resulting in cyanosis and CO2
    retention .
  • The patients were started on Nasal CPAP trial,
    ABGs after one hour showed
  • Abd PH 7.00 , PaCO2 106.2 mmHg,PaO2 51.5
    mmHg , HCO325.6 mmol/l,BE -8.6.

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Neonatal Presentation of CCHS Case report
  • Ran PH 7.08,PaCO2 86,PaO2 87,HCO3
    25,BE-5.
  • The patients were intubated started on
    mechanical ventilation (SIPPV), VBGs after one
    hour of ventilation
  • Abd PH 7.24 , PaCO2 36.3mmHg, PaO2
    40.5mmHg , HCO3 15.2mmol/l, BE -11.
  • Ran PH 7.44, PaCO2 20, PaO2 89, HCO3 13,
    BE-11.
  • Several trials of CPAP ventilation failed due to
    hypoponea prolonged apnea, blood gases were
    done as needed.
  • Aminophylline intravenously was given at maximum
    doses it was stopped when caffeine was given on
    the request of the family.
  • They received Intravenous Antibiotics for 5 days,
    which were discontinued after ruling out sepsis.

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Neonatal Presentation of CCHS Case report
  • Investigations
  • Chest X ray No signs of RDS, normal lung fields.
  • Cranial ultrasonography normal. No evidence of
    ICH.
  • Abdominal Ultrasound normal.
  • Echocardiogram normal cardiac structure,
    dextroposition of the heart with normal axis , no
    evidence of pulmonary hypertension.
  • Blood and urine cultures negative.
  • CBC normal for age.
  • Kidney Function Test normal
  • Serum immunoglobulin levels normal for age.

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Neonatal Presentation of CCHS Case report
  • Metabolic Screen urine serum Amino acids
    unremarkable.
  • Serum ammonia lactate normal levels
  • Carnitin blood level was low, Subsequent levels
    were normal.
  • Brain CT scan revealed assymetry in the lateral
    ventricles in the girl only which was interpreted
    by neurosurgeons as normal variation.

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Neonatal Presentation of CCHS Case report
  • Presentation and clinical course is not
    consistent with surfactant deficiency, pneumonia,
    sepsis, metabolic disorder, ICH, or PPHN, which
    had been ruled out by laboratory, and
    radiological investigation and clinical course.
  • Our differential diagnosis was either CCHS or a
    new presentation for Primary Immotile cilia
    syndrome / dyskinesia.

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Neonatal Presentation of CCHS Hospital Course
  • During their stay in NICU,the twin were started
    on N/G feeding and increased gradually which was
    tolerated without any problems.
  • Cardiology evaluation normal echocardiography
    and normal 24 hr holter monitoring without any
    arrythmias.
  • Neurology evaluation no clinical neurological
    abnormalities detected.

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Neonatal Presentation of CCHS Hospital Course
  • Ophthalmology consultation bilateral retinal
    examination showed immature retina Zone II III
    with no retinal pigmentation. No ROP. Follow up
    exams were normal.
  • Infectious dis. consultant was following them
    during their hospitalization with routine
    cultures and appropriate antibiotics when
    indicated.
  • Consultations with centers abroad( England and
    USA) for definite diagnosis.

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Neonatal Presentation of CCHS Hospital Course
  • Recurrent trials of VERY slow weaning from
    mechanical ventilation failed with acidosis and
    hypercarbia.
  • Recurrent reintubation became difficult and done
    by expert anesthetists with time.
  • Muscle biopsies were taken from both babies at
    the age of 3 months and blood samples from
    parents were all sent to Rush University and
    Medical Center . Results confirmed the diagnosis
    of CCHS in the twin ( Positive for PHOX2B
    gene-20/27).
  • The father had a CCHS polyalanine repeat
    expansion mutation(20/27) suggesting somatic
    mosaicism without clinical symptoms.
  • By that time the family started to accept the
    idea of tracheostomy and home ventilators for the
    twin.

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Neonatal Presentation of CCHS Hospital Course
  • Treatment Modalities
  • Tracheostomy.
  • Gastrostomy.
  • Home ventilation.
  • Diaphragmatic pacing.

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Neonatal Presentation of CCHS Hospital Course
  • At the age of 4 months, tracheostomy was done
    for them by pediatric surgeon. Postoperatively
    tracheostomy tubes were out and they
    were reintubated again. During this attack,
    Abdullah suffered from asphyxia that lead to
    recurrent seizures and eventually declared brain
    dead by flat EEG record and abscent brainstem
    reflexes.
  • Abdullah died on 30/7/2007 at the age of five
    months.
  • Rania was put on mechanical ventilator by ETT
    and did well afterwards.
  • Rania was transferred to another hospital for
    long term management. Currently shes 9 months
    old on tracheostomy tube and mechanical
    ventilator and feeding by gastrostomy.

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Neonatal Presentation of CCHS Summary
  • To our knowledge we report for the first time the
    clinical presentation of a dizygotic twin with
    PHOX2B Positive CCHS. Symptoms were severe since
    birth and persisted during awakeness and sleep
    and didnt improve with age.
  • They didnt have any manifestation of ANSD.
  • The father had the gene which is known to be
    autosomal dominant without any clinical
    manifestations apart from his disease( PCDS).

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Neonatal Presentation of CCHS Conclusions
  • CCHS is underestimated to be affecting only 300
    children in the world.
  • High index of suspicion is the most important
    factor to give these babies the best survival
    with less morbidity.
  • Early diagnosis minimize health care cost and
    exposure to asphyxia.
  • Mortality is mainly due to acute or chronic
    asphyxia and their sequale ( neurological and
    pulmonary).

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Neonatal Presentation of CCHS Recommendations
  • Establishing referral centers for long term
    followup for such patients is important.
  • Prenatal diagnosis is possible if mutation is
    identified.
  • Increase awareness of CCHS since rarity of the
    disease makes it difficult for practitionors to
    see cases and diagnose them easily.
  • Collaboration with the Arab pediatricians to
    increase awareness to rare diseases through
    U.A.P.

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