A child with chromosome 22q11.2 deletion syndrome and a bilobed gallbladder

Department of Radiology, Dalhousie University, Halifax, Nova Scotia, Canada.
Pediatric Radiology (Impact Factor: 1.57). 03/2007; 37(2):213-5. DOI: 10.1007/s00247-006-0357-1
Source: PubMed


We present an 11-year-old girl with a chromosome 22q11.2 microdeletion, velocardiofacial syndrome (VCFS), and a bilobed gallbladder as an incidental finding on abdominal sonography. The finding was confirmed by magnetic resonance cholangiopancreatography (MRCP). This is the first report of a gallbladder anomaly associated with a chromosome 22q11.2 deletion and the second report of a biliary tract anomaly associated with a mutation in the chromosome 22q11 region. We suggest that close attention be paid to the anatomy of the biliary tree in patients with mutations in the chromosome 22q11 region. Further study is warranted to determine the range and prevalence of biliary tract anomalies in this population.

15 Reads
  • [Show abstract] [Hide abstract]
    ABSTRACT: A new case of severe clinical phenotype of the cat-eye syndrome: We report on a female infant with severe clinical phenotype of Cat-Eye Syndrome (CES). At birth, she had respiratory distress and marked hypotonia. Physical examination showed major craniofacial anomalies including microcephaly, bilateral total absence of the external ears, hypertelorism, bilateral ocular coloboma of iris and micrognathia. In addition, she had anal stenosis, a patent ductus arteriosus and intra- and extra- hepatic biliary atresia. She deteriorated with the development of bradycardia. She died at age one month of cardiac failure. Cytogenetic analysis of the proband showed an extra de novo small bisatelllited marker chromosome in all cells examined. Molecular cytogenetic analysis with fluorescence in situ hybridization (FISH) identified the marker as a CES chromosome. Thus, the patient's karyotype was: 47, XX, +idic(22)(pter-->q11.2 ::q11.2-->pter). The duplication breakpoints giving rise to the CES chromosome were distal to the DiGeorge Syndrome (DGS) locus 22q11.2. The marker could be classed as a type 11 symmetrical (10). According to a recent review of CES literature (1) only 41 % of the CES patients have the combination of iris coloboma, anal anomalies and preauricular anomalies. Almost 60% are hard to recognize by their phenotype alone. Only twelve patients showed a severe clinical phenotype leading to the death of the child. This phenotypic variability increases the difficulties of genetic counseling.
    Genetic counseling (Geneva, Switzerland) 02/2004; 15(4):443-8. · 0.44 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Chromosome 22q11 deletion syndrome is a relatively newly described syndrome that encompasses the majority of patients previously felt to have velo-cardio-facial syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome. The disorder is characterized by a deletion of band 11 on the long arm of chromosome 22 most often recognized by fluorescent in situ hybridization (FISH) techniques. Extensive laboratory investigations are currently ongoing to uncover the specific genes involved and their functions. Phenotypically, individuals present with congenital heart disease, palatal abnormalities, facial dysmorphism, and developmental delay, as well as variable degrees of immunodeficiency, hypocalcemia, and endocrine abnormalities. The primary care physician has an important role in caring for these patients and their families. We review the current state of knowledge regarding chromosome 22q11 deletion syndrome, with an emphasis on the clinical presentation and on prevention and treatment of the known complications associated with this multisystem disorder. Chromosome 22q11 deletion syndrome can be inherited in an autosomal dominant fashion or result from a de novo deletion or translocation. Hence, this syndrome may have significant reproductive risks to affected individuals and families.
    Clinical Pediatrics 06/1997; 36(5):253-66. DOI:10.1177/000992289703600502 · 1.15 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Gallbladder duplication is a rare congenital condition, which can now be detected preoperatively by imaging studies. We report a case of duplicated gallbladder with symptomatic unilobar gallstones. Appropriate biliary workup (ultrasound, oral cholecystography, and intravenous cholangiography) allowed a correct preoperative diagnosis. Laparoscopic treatment included selective removal of the diseased accessory gallbladder. However, postoperative acute cholecystitis and symptomatic gallstone occurred in the remaining main gallbladder, and laparoscopic reintervention was required 27 months later. This case illustrates the need for complete removal of both gallbladders during initial surgery. Precise intraoperative recognition of vascular and biliary anatomy-including abnormalities-is highlighted to avoid mistakes during surgery.
    Surgical Endoscopy 06/1997; 11(5):479-82. DOI:10.1007/s004649900396 · 3.26 Impact Factor
Show more