Introduction : Cantú syndrome manifested by congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia is recognized as rare autosomal dominant condition. Although the majority of affected individuals have good prognosis, developmental delay with hypotonia and learning disabilities have been observed. In this study, we report on a case of Cantú syndrome and follow-up clinical manifestations of the case for about 1 year.
Case : Nine months old male child visited the outpatient clinic in department of Physical Medicine and Rehabilitation with complaint of delayed development. He was born at 38 weeks of gestation by normal vaginal delivery and birth weight was 3780g. He was found to have a patent ductus arteriosus and it was surgically treated at 1month of his age.
His growth profile at 9months showed a weight of 8kg(10th centile), length of 73cm(50th centile), and head circumference of 47cm(90-95th centile) as a macrocephaly. He had generalized hypertrichosis except abdomen. He was impossible to sit without support because of severe trunk hypotonia and showed anterior collapse. X-ray study showed mild osteochondrodysplasia such as wide ribs, narrow thorax, and enlarged medullar canal with Erlenmeyer flask-like long bones and brain MRI finding was normal. He was diagnosed Cantú syndrome based on clinical findings.
The developmental assessment with Korean Bayley Scales of Infant Development was done and Mental Development Index(MDI) was 84(mildy delayed performance) and Psychomotor Development Index(PDI) was 68(significantly delayed performance) at at 9months of his age. The developmental assessment with Peabody Developmental Motor Scale-2(PDMS-2) was also done, 5 months at grasp and 8 months at Visual-Motor Integration(VMI) at 9months of his age. However, his language development was normal in Sequenced Language Scale for Infants(SELSI).
He had intensive daily rehabilitative management for 5months in our hospital and after that treatment schedule had been changed to 2 times a week. He was able to gait independently and severe trunk hypotonia was much improved at 17 months of his age. Follow-up developmental assessments were taken at 17months of his age. MID was 74(mildly delayed performance) and PDI was 66(significantly delayed performance) in Korean Bayley Scales of Infant Development. At 15months of his age, he showed 13months at grasp and 15months at VMI in PDMS-2, average level. His language development was showed 13months at receptive and expressive language, mild delayed language development about 4months.
Conclusion :This is the first case report of Cantú syndrome in Korea. It was known that long-term follow up of Cantú syndrome has shown reassuring neurodevelopmental outcome, and in our case showed motor delay with hypotonia which was improved after habilitation. And long term follow up of monitoring any neurodevelopmental and behavioral outcome of Cantú syndrome will be needed.
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