Syndrome of Jacobsen

History

The syndrome of Jacobsen appeared for the first time in the medical literature in 1973 in an article of the Danish geneticist Dr.Petrea Jacobsen. It was confused a long time with the Thrombopénie of Paris Trousseau until to the description of this last in the medical literature in 1995. Dr. Paul Grossfeld studied 110 patients during 7 years reached by this syndrome and in made a study.

Description

The syndrome of Jacobsen must with a Délétion partial on the level of the area q23 to q24 (sometimes until the Télomère) of the Chromosome 11. This partial monosomy involves the deterioration of the integrity of expression of certain genes of the area (in particular fli-1 and ets-1) what involves biological effects on the organization. " It was shown that a fragile site sensitive to the folate had caused déletions observed among certain patients, and the points of break seem, in general, to gather around the repetitions of triplet S CCG ".

Symptoms

There exist many symptoms more or less expressed according to the individuals concerned.
  • a Thrombopénie of Paris Trousseau
  • a light backwardness with moderate.
  • an expressive linguistic function moderately faded.
  • a delay of stature
  • Of the light psychomotor disorders to see non-existent.
  • Of the anomalies cardiac, the development craniofaciale, gastro-intestinal, renal, génito-urinary, ophthalmic and orthopedic.

Diagnosis

Antenatal

It is possible thanks to a Amniocentèse or a Choriocentèse. However the délétion can be so small that it can be detectable with these techniques only if they are associated with an increase in the resolution of the Caryotype.

Postnatal

After the birth the simple study of the chromosomic chart makes it possible to detect the genetic anomaly. This study is carried out at the time of the suspiction of the disease because of its phenotypical expression symptomatique.
The technique FISH (in situ hybridization by fluorescence) is used to detect the microdélétions.

Clinical assumption of responsibility

Cardiologic

  • basic Échocardiogramme and examination by a cardiologist pediatrist. Repetition of the examination if it required there.

Hematologic

    monthly, quarterly
  • CBC then annual,
  • Examen of let us fonctons plate when the rate becomes again normal,
  • Transfusion of plates ddAVP for the bleedings/high-risk protocols.

Neuropsychological

  • basic Examination practiced by a behaviorist neuropsychiatrist each year or more often before the scolaristaion,
  • cerebral Examination.

Ophthalmologic

  • basic Examination to 6 week then 3 months, 6 months and then every 6 months until the 3 years age then each year.

Endocrinien

  • Examination of the levels of growth hormones (IGF) and hypothalamo-pituitary then when that and necessary.

Gastro-intestinal

  • Upper Gl series abdominal ultrasounds (to exclude a sténose from the pylore),
  • rectal Manometry rectal Biopsy in the cases of constipation chronic,
  • Examination of swallowing in the case of a defect of catch of weight.

Génito-urinary

  • renal Echography.

Oto-rhino-laryngologique

  • Examination auditive adapted to the age
  • ENT to detect chronic/recurring infections and sinusitises.

Neurology

  • Examination of the brain by imagery,
  • ophthalmologic and auditive Tests.

Neurochirugicale

References

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