Overcoming the barriers to diagnosis of Morquio A syndrome.

Orphanet J Rare Dis 2014 Nov 30;9:192. Epub 2014 Nov 30.

Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Zhongshan N. Road, Taipei City, 10449, Taiwan.

Background: Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications.

Methods: Experts in Asia Pacific reviewed medical records focusing on presenting signs and symptoms leading to a diagnosis of Morquio A syndrome.

Results: Eighteen patients (77% female) had a mean (median; min, max) age of 77.1 (42.0; 0.0, 540.0) months at symptom onset, 78.9 (42.0; 4.5, 540.0) months at presentation and 113.8 (60.0; 7.0, 540.0) months at diagnosis. Orthopedic surgeons and pediatricians were most frequently consulted pre-diagnosis while clinical geneticists/metabolic specialists most frequently made the diagnosis. Delayed diagnoses were due to atypical symptoms for 5 patients (28%), while 4 patients (22%) experienced each of subtle symptoms, symptoms commonly associated with other diseases, or false-negative urine glycosaminoglycan analysis. Two patients (11%) each experienced overgrowth within the first year of life. Two patients with Morquio A syndrome (11%) were diagnosed with craniosynostosis and 1 (6%) for each of Legg-Calvé-Perthes disease, Leri-Weill syndrome, and pseudoachondroplasia. Early radiographic features of Morquio A syndrome led to more efficient diagnosis.

Conclusions: Increased awareness of clinical symptomology overlapping with Morquio A syndrome is essential. Clinicians encountering patients with certain skeletal dysplasia should consider Morquio A syndrome in their differential diagnosis. Atypical or subtle symptoms should not eliminate Morquio A syndrome from the differential diagnosis, especially for patients who may have non-classical phenotype of Morquio A syndrome.

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-014-0192-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279997PMC
November 2014
66 Reads

Publication Analysis

Top Keywords

morquio syndrome
32
5400 months
12
morquio
9
syndrome
9
differential diagnosis
8
syndrome differential
8
diagnosis morquio
8
420 5400
8
subtle symptoms
8
diagnosis
7
patients
7
symptoms
5
syndrome led
4
surgeons pediatricians
4
orthopedic surgeons
4
diagnosis orthopedic
4
geneticists/metabolic specialists
4
pediatricians frequently
4
frequently consulted
4
radiographic features
4

References

(Supplied by CrossRef)

N Di Ferrante et al.
Science 1978

A Dorfman et al.
Adv Exp Med Biol 1976

J Glössl et al.
Biochem J 1982

JE Wraith et al.
Arch Dis Child 1995

CJ Hendriksz et al.
Orphanet J Rare Dis 2014

JW Spranger et al.
2012

AM Montaño et al.
J Inherit Metab Dis 2007

HY Lin et al.
Orphanet J Rare Dis 2014

CJ Hendriksz et al.
Mol Genet Metab 2013

T Wood et al.
J Inherit Metab Dis 2013

CJ Hendriksz et al.
J Inherit Metab Dis 2013

Similar Publications