Bloom syndrome in short children born small for gestational age: a challenging diagnosis.
BACKGROUND
GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is contraindicated, eg, chromosomal breakage syndromes. Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, mental retardation or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers.


OBJECTIVE
We report 2 patients with Bloom syndrome illustrating the variety in clinical manifestations. They were initially diagnosed with short stature after SGA birth and Silver Russell syndrome and treated with GH.


METHODS
Both patients presented with pre- and postnatal growth failure but no clear other characteristic features associated with Bloom syndrome. Photosensitive skin lesions developed only at a pubertal age and were minimal. Also, both children showed normal immunoglobulin levels, normal development, and no signs of endocrinopathies at start of GH. Dysmorphic features resembling Silver Russell syndrome were observed in both patients. Remarkably, during GH treatment IGF-1 levels increased to values greater than 3.5 SD score, with normal IGF binding protein-3 levels.


CONCLUSIONS
Short children born SGA comprise a heterogeneous group. Bloom syndrome should be tested for in children with consanguineous parents, dysmorphic features (particularly resembling Silver Russell syndrome), skin abnormalities, and/or IGF-1 levels greater than 2.5 SD score during standard GH treatment with normal IGF binding protein-3 levels.
MD, Erasmus Medical Center/Sophia Children's Hospital, Dr Molewaterplein 60, Room Sb-2603, 3015 GJ Rotterdam, The Netherlands. j.renes@erasmusmc.nl.
Judith S
JS
Renes
Ruben H
RH
Willemsen
Anja
A
Wagner
Martijn J J
MJ
Finken
Anita C S
AC
Hokken-Koelega
D001816:Bloom Syndrome / Q000175:diagnosis* / Q000188:drug therapy*; D002675:Child, Preschool; D000075202:Contraindications; D003951:Diagnostic Errors; D005260:Female; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D008297:Male; D056730:Silver-Russell Syndrome / Q000175:diagnosis* / Q000188:drug therapy*
D019382:Human Growth Hormone