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    pierre robinSyndrome lec 1

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    Bayan Alnimrawi
    Syndrome

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    pierre robinSyndrome lec 1

    Uploaded by

    Bayan Alnimrawi
    3 views40 pages
    Syndrome

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    © © All Rights Reserved

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    Syndrome

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    3 views40 pages

    pierre robinSyndrome lec 1

    Uploaded by

    Bayan Alnimrawi
    Syndrome

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
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    Pierre Robin

    Syndrome
    DONE BY :DR.FATMA KOFATI , DR.NOURAN TUBISHAT
    SUPERVISION BY DR.SIRIN ALZOUBI
    Pierre robin syndrome

     Pierre Robin sequence is a condition present at


    birth, in which the infant has a smaller than normal lower jaw
    (micrognathia), a tongue that is placed further back than normal
    (glossoptosis), and an opening in the roof of the mouth (cleft
    palate).

     This combination of features can lead to difficulty breathing and


    problems with eating early in life.

     Pierre Robin sequence may occur alone (isolated) (about 20-40


    %) or be associated with a variety of other signs and symptoms
    Etiology

     Pierre Robin sequence is a condition with multiple causes.


     At about 7-10 weeks into a pregnancy, the lower jaw grows
    rapidly, allowing the tongue to descend from between the two
    halves of the palate.
     If, for some reason, the lower jaw does not grow properly, the
    tongue can prevent the palate from closing, resulting in a cleft
    palate. The small or displaced lower jaw also causes the tongue
    to be positioned at the back of the mouth causing breathing
    difficulties when the child is born.
     This "sequence of events" is the reason why the condition has
    been classified as a sequence.
    Etiology

     The exact causes of Pierre Robin sequence are unknown.


    Possible mechanisms for the sequence include :
    I. genetic causes
    II. low volume of amniotic fluid (oligohydramnios), which may
    limit chin growth
    III. weakness of the facial muscles (myotonia)
    IV. connective tissue disease.
     Changes (mutations) in the DNA near the SOX9 gene are the
    most common genetic cause of isolated cases of Pierre Robin
    sequence.

     The SOX9 protein regulates the activity of other genes,


    especially those involved in the development of the skeleton,
    including the jaw.
     In about 37% of cases, Pierre Robin occurs as part of
    a syndrome with multiple malformations. Pierre Robin sequence
    has been reported as occurring in association with
    Stickler syndrome (20%-25% of these cases), campomelic
    dysplasia, trisomy 11q syndrome, deletion 4q syndrome,
    CHARGE association, velocardiofacial syndrome, and
    Treacher-Collins syndrome.

     Autosomal recessive inheritance is possible. An X-linked variant


    has been reported involving cardiac malformations and clubfeet.
    Frequency

     This heterogeneous birth defect has a prevalence of


    approximately 1 per 8500 live births. The male-to-female ratio is
    1:1, except in the X-linked form.
    Otolaryngologic Manifestations

    1. Micrognathia is reported in the majority of cases (91.7%). It is


    characterized by retraction of the inferior dental arch 10-12 mm
    behind the superior arch.
     The growth of the mandible catches up during the first year;
    however, mandibular hypoplasia resolves and the child attains a
    normal profile by approximately age 5-6 years.

    2. Glossoptosis is noted in 70-85% of reported cases. Macroglossia


    and ankyloglossia are relatively rare findings, noted in 10-15% of
    reported cases.
    Otolaryngologic Manifestations

     The combination of micrognathia and glossoptosis may cause


    severe respiratory and feeding difficulty in the newborn.

     Obstructive sleep apnea may also occur.


    Otolaryngologic Manifestations

    3. The most common otic anomaly is otitis media, occurring 80% of


    the time, followed by auricular anomalies in 75% of cases.

     Hearing loss, mostly conductive, occurs in 60% of patients, while


    external auditory canal atresia occurs in only 5% of patients.
    Otolaryngologic Manifestations

    4. Nasal deformities are infrequent and consist mostly of anomalies


    of the nasal root.
     Dental and philtral malformations occur in one third of cases.
    Laryngomalacia occurs in approximately 10-15% of patients with
    Pierre Robin sequence.
     Gastroesophageal reflux and esophagitis has also been
    described.
     Speech defects occur frequently in patients with Pierre Robin
    sequence.
    Systemic Manifestations

     In general, systemic anomalies are documented in 10-85% of


    reported cases

     Ocular anomalies are reported in 10-30% of patients.


    lesions occur in decreasing order of frequency:
    hypermetropia, myopia, astigmatism, corneal sclerosis, and
    nasolacrimal duct stenosis.
    Systemic Manifestations

     Cardiovascular findings such as benign murmurs, pulmonary


    stenosis, patent ductus arteriosus, patent foramen ovale, atrial
    septal defect, and pulmonary hypertension have all been
    documented.

     Their prevalence varies in the literature from 5-58%.


    Systemic Manifestations

     Anomalies involving the musculoskeletal system are the most


    frequent systemic anomalies (noted in 70-80% of cases).
     They include syndactyly, dysplastic phalanges, polydactyly,
    clinodactyly, hyperextensible joints, and oligodactyly in the upper
    limbs.
    Systemic Manifestations

     Central nervous system (CNS) defects such as :


    language delay, epilepsy, neurodevelopmental delay, hypotonia,
    and hydrocephalus may occur.

    The incidence of CNS defects is around 50%.


    Systemic Manifestations

     Genitourinary defects may include :


    1. undescended testes (25%)
    2. hydronephrosis (15%)
    3. and hydrocele (10%).

    Also could associated with hypoglycemia


    Prognosis

     All neonates with significant PRS are at risk for sudden death.
    The sudden infant death syndrome (SIDS) data show that the risk
    of SIDS is increased when infants sleep in the prone position.
    Neonates with PRS already have a compromised airway, and they
    also typically require prone positioning. Accordingly, monitoring
    of these neonates should be strongly considered
    Prognosis

     Children with PRS have difficulties with feeding. A cleft palate


    prevents production of the negative pressure necessary for
    sucking during breastfeeding.

     In addition, because of an abnormal jaw position, a baby with a


    small mandible usually has difficulties contracting its orbicularis
    oris muscle and squeezing the mother's nipple.

     In cleft palate, a wide communication between the oral and


    nasal cavities creates a risk of aspiration, nasal regurgitation,
    choking, and other feeding problems
    Management
    Conservative Management

     In the majority of patients, conservative management with close


    observation and follow up is successful.

     The natural history shows that with normal growth, airway


    compromise resolves without immediate surgical intervention.
    Isolated Pierre Robin syndrome (PRS) patients usually respond
    more favourably to the conservative approach.
     Prone positional therapy has proved to be highly efficient in
    airway management.

     Oral airway placement, laryngeal mask, nasopharyngeal


    stenting, and short-term intubation (< 2 wk) are other options in
    case positioning is inadequate.
     Feeding difficulties can be alleviated by upright feeding
    techniques, modification of the nipple for bottle feeding,
    temporary use of nasogastric or orogastric feeding tube, and the
    placement of a gastrostomy.

     Palatal plates such as the pre-epiglottic baton plate, which have


    a velar extension, pull the base of the tongue forward. This can
    be helpful in the relief of airway obstruction, and it also facilitates
    the swallowing mechanism during feeds.
    Surgical Management

     In patients who consistently maintain CO2 levels above 50, a


    surgical procedure is appropriate. The following three surgical
    procedures are used to treat PRS :
     Tongue-lip adhesion/glossopexy
     Tracheostomy
     Distraction osteogenesis of the mandible

     Cleft palate correction between 10-18 months


    Pierre robin syndrome and
    hypoglycemia
    Phosphoglucomase 1

     PGM -1 is highly expressed in human’s tissues.

     It plays a critical role in glucose hemeostasis by catalyzing the


    reversible conversion of glucose 1-p to glucose 6-p ,taking part in
    both glycogen synthesis and degradation.
    PGM-1 deficiency

     PGM-1 also essential for protein-N-glycosylation providing the


    required precursor glucose-1-phosphate (PPGM1) defect has a
    multisystem mature .
    Main clinical manifistation

     Cleft palate /uvula


     Pierre robin sequence
     Increase serum transaminase
     Hypoglycemia
     Muscle weakness
     CVS disorder
     Growth retardation
     Various endocrine abnormalities
    PGM-1

    Diagnosis
     By genetic testing (PCR ) gene sequencing analysis
    Thank you 

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