The Turkish Journal of Pediatrics
2013 , Vol 55 , Num 2
Jacobsen Syndrome without Thrombocytopenia: A Case Report and Review of the Literature
1Department of Pediatrics, Namık Kemal University Faculty of Medicine, Tekirdağ, and 2Division of Pediatric Cardiology,
Department of Pediatrics, İstanbul University İstanbul Faculty of Medicine, İstanbul, Turkey. E-mail: bnalbantoglu@nku.edu.tr
Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is
caused by the terminal deletion of chromosome 11q. Typical features include
mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism,
cardiac defects, and thrombocytopenia, though none of these features are
invariably present. The estimated occurrence of JS is about 1/100,000 births.
The female/male ratio is 2:1. The patient admitted to our clinic at 3.5 years
of age with a cardiac murmur and facial anomalies. Facial anomalies included
trigonocephaly with bulging forehead, hypertelorism, telecanthus, downwardslanting
palpebral fissures, and a carp-shaped mouth. The patient also had
strabismus. An echocardiogram demonstrated perimembranous aneurysmatic
ventricular septal defect and a secundum atrial defect. The patient was <3rd
percentile for height and weight and showed some developmental delay.
Magnetic resonance imaging (MRI) showed hyperintensive gliotic signal
changes in periventricular cerebral white matter, and leukodystrophy was
suspected. Chromosomal analysis of the patient showed terminal deletion of
chromosome 11. The karyotype was designated 46, XX, del(11) (q24.1). A
review of published reports shows that the severity of the observed clinical
abnormalities in patients with JS is not clearly correlated with the extent
of the deletion. Most of the patients with JS had short stature, and some
of them had documented growth hormone deficiency, or central or primary
hypothyroidism. In patients with the classical phenotype, the diagnosis
is suspected on the basis of clinical findings: intellectual disability, facial
dysmorphic features and thrombocytopenia. The diagnosis must be confirmed
by cytogenetic analysis. For patients who survive the neonatal period and
infancy, the life expectancy remains unknown. In this report, we describe
a patient with the clinical features of JS without thrombocytopenia. To our
knowledge, this is the first case reported from Turkey.
Keywords :
Jacobsen syndrome, thrombocytopenia, 11q deletion.