Abstract

1.1    Background: Juvenile spinal muscular atrophy which is also called Wohlfart Kugelberg Welander syndrome, is an autosomal recessive condition which appears within the first few years of life. Most of the patients are able to walk during early life, but difficulties in walking appears gradually leading to a variable degree of disability. There is no known satisfactory therapy for the treatment of Wohlfart Kugelberg Welander syndrome. The aim of this paper is to describe the novel use of cerebrolysin in the treatment of pediatric Wohlfart Kugelberg Welander syndrome.
1.2    Patients and methods: Two unrelated Iraqi boys aged four years with pediatric Wohlfart Kugelberg Welander syndrome were observed, and the one who was more severely affected was treated with intramuscular cerebrolysin. The less affected boy received no treatment. The father of the boy with less severe condition mainly complained that his son can not run as fast as his peers and he didn’t have obvious gait abnormality, but he was unable to stand on foot which is a milestone commonly achieved at the age of three years. The more severely affected boy had noticeable gait abnormalities and obvious difficulty with squatting, and was also unable to stand on foot.
1.3    Results : Cerebrolysin treatment was not associated with any side effects. Cerebrolysin treated boy experienced improvements in gait and squatting, and was able to stand on one foot momentarily for 2-3 seconds, while the untreated boy with the less severe condition couldn’t .
1.4    Conclusion: A study enrolling more patients is recommended.

 

Keywords

Wohlfart-Kugelberg-Welander syndrome, treatment, cerebrolysin, serum creatine phosphokinase, hallucis muscles, peripheral fasciculations