Overcoming the barriers to diagnosis of Morquio A syndrome

Orphanet Journal of Rare Diseases

Shuan-Pei Lin⁷  Albert D Yang³  Teck-Hock Toh^1,11  Verasak Thamkunanon¹  Akemi Tanaka⁸  Adeline Tan^1,15  Hasri Samion⁶  Torayuki Okuyama^1,14  Nancy J Mendelsohn⁵  Jim McGill⁴  Hsiang-Yu Lin⁷  Anita Inwood⁴  Young Hee Kwun^1,12  Motomichi Kosuga^1,14  Ok-Hwa Kim⁹  Dong Kyu Jin^1,12  Antony Fu^1,16  Michael Fietz^1,10  Yew Sing Choy^1,13  Shanti Balasubramaniam^1,17  Kaustuv Bhattacharya² 

[1] Queen Sirikit National Institute of Child Health, 420/8, Ratchawithi Road, Thung Phaya Thai, Khet Ratchathewi 10400, Bangkok, Thailand;Genetic Metabolic Disorders Service, The Children’s Hospital at Westmead, Hawkesbury Rd & Hainsworth St, Westmead, Sydney, NSW, Australia;Changhua Christian Hospital, 135 Nanxiao St, Changhua City 526, Changhua County, Taiwan;Department of Metabolic Medicine, Royal Children’s Hospital, Herston 4006, QLD, Australia;Children’s Hospitals & Clinics of Minnesota, 2525 Chicago Ave, Minneapolis, MN, USA;National Heart Institute, 145 Jalan Tun Razak, Kuala Lumpur, 50586, Wilayah Persekutuan Kuala Lumpur, Malaysia;Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Zhongshan N. Road, Taipei City 10449, Taiwan;Osaka City University Graduate School of Medicine, 1-4-3 Asahimachi, Osaka 545-8585, Abeno-ku, Japan;Department of Radiology, Woorisoa Children’s Hospital, Guro-gu, Seoul 152-862, South Korea;SA Pathology (at Women’s and Children’s Hospital), 72 King William Rd, North Adelaide 5006, SA, Australia;Department of Paediatrics and Clinical Research Centre, Sibu Hospital, KM 5 1/2, Jalan Ulu Oya, Sibu, 96000, Sarawak, Malaysia;Department of Pediatrics, Samsung Medical Center, Irwon-Dong, Seoul, Gangnam-Gu, South Korea;Prince Court Medical Center, 39 Jalan Kia Peng, Kuala Lumpur, 50450, Wilayah Persekutuan Kuala Lumpur, Malaysia;Department of Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku 157-8535, Tokyo, Japan;Ipoh Specialist Hospital, Ipoh, Perak, Malaysia;Prince of Wales Hospital, 30-32 Ngan Shing Street, Sha Tin, NT, Hong Kong;Metabolic Unit, Princess Margaret Children’s Hospital, Roberts Rd, Subiaco 6008, WA, Australia

关键词: Asia Pacific;    Skeletal dysplasia;    Diagnosis;    Morquio A syndrome;    Mucopolysaccharidosis;   

Others  :  1149270
DOI  :  10.1186/s13023-014-0192-7

 received in 2014-07-11, accepted in 2014-11-11,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Bhattacharya et al.; licensee BioMed Central.

【 图 表 】

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