553 - Evaluating scoliosis in a patient with Smith Lemli Opitz syndrome

Thursday, February 22, 2024

5:00 PM – 6:30 PM EDT

Presenting Author(s)

KS

Kush H. Shah, BS

Medical Student
LECOM
Kendall Park, New Jersey, United States
CL

Caroline A. Lewis, MD

Resident Physician
Mount Sinai Hospital
New York, New York, United States

Co-Author(s)

KW

Kaitlyn Wilkey, DO

resident
Mount Sinai Hospital
New York, New York, United States

Case Diagnosis: Smith Lemli Opitz Syndrome

Case Description: Patient presents with Smith Lemli Opitz syndrome (SLOS), a rare autosomal recessive disorder. The patient came into the clinic with complaints of thoracic kyphosis as well as difficulty ambulating. Patient is non-verbal and recently his family reported that he has been wincing in pain when walking. Furthermore, he was diagnosed with scoliosis in 2016 and his family was worried that the patient had developed increased rounding of his upper back. The patient’s gait has also been affected as he was previously able to ambulate inside his house without assistance. Recently the patient has been more inactive at home and reluctant to move when asked. On exam, patient presents with a wide gait.

Discussions: SLOS results in deficiency of 7-dehydrocholesterol reductase (DHCR7) which leads to decreased cholesterol levels, making it difficult to support normal cellular function, and growth. Patients with SLOS have reported facial dysmorphism, cardiac defects, growth restriction, intellectual disability and hypospadias. While there is no cure for SLOS, early intervention with physical/occupational/speech therapies can be beneficial to help with associated disabilities that develop. There is very little literature on the progression of SLOS and if patients are prone to scoliosis. It is key to highlight that rehabilitation therapy can aid patients with SLOS as it can prevent muscle atrophy, decrease progression of scoliosis, and improve core strengthening and gait balance. Life expectancy in patients with SLOS is largely determined by the severity of internal malformations. Rehab can provide quality supportive care that can help improve their activities of daily living and prolong life expectancy

Conclusions: There is a need for further research on the risk of scoliosis in patients with SLOS, and it’s important to bring awareness regarding proper management. Early rehabilitation can help improve quality of life and prolong life expectancy in this population