An efficient multidisciplinary approach in a pregnant patient with hereditary spastic paraparesis treated by intrathecal baclofen therapy: A case report

Literature regarding cases of pregnant patients with hereditary spastic paraparesis (Strumpell-Lorrain disease) and those treated by intrathecal baclofen therapy is sparse. There are currently no specific guidelines to manage pregnancy and delivery in these patients. A 42-year-old woman presented to our clinic with hereditary spastic paraparesis and was treated with intrathecal baclofen for spasticity. She conceived twice and delivered successfully by caesarean section under subarachnoid anaesthesia. The two pregnancies had favourable outcomes with no increase in spasticity and no problems encountered with the intrathecal device. In this report, we discuss the evolution of both pregnancies and the anaesthetic management for deliveries in the presence of an intrathecal catheter. Keywords: Caesarean section; case report; hereditary spastic paraparesis; intrathecal baclofen; pregnancy.

Biotinidase deficiency

ObjectiveTo expand the genetic spectrum of hereditary spastic paraparesis by a treatable condition and to evaluate the therapeutic effects of biotin supplementation in an adult patient with biotinidase deficiency (BD).MethodsWe performed exome sequencing (ES) in a patient with the clinical diagnosis of complex hereditary spastic paraparesis. The patient was examined neurologically, including functional rating scales. We performed ophthalmologic examinations and metabolic testing.ResultsA 41-year-old patient presented with slowly progressive lower limb spasticity combined with optic atrophy. He was clinically diagnosed with complex hereditary spastic paraparesis. The initial panel diagnostics did not reveal the disease-causing variant; therefore, ES was performed. ES revealed biallelic pathogenic variants in the BTD gene leading to the genetic diagnosis of BD. BD is an autosomal recessive metabolic disorder causing a broad spectrum of neurologic symptoms, optic atrophy, and dermatologic abnormalities. When treatment is initiated in time, symptoms can be prevented or reversed by biotin supplementation. After diagnosis in our patient, biotin supplementation was started. One year after the onset of therapy, symptoms remained stable with slight improvement of sensory deficits.ConclusionsThese findings expand the genetic spectrum of the clinical diagnosis of complex hereditary spastic paraparesis by a treatable disease. Today, most children with BD should have been identified via newborn screening to start biotin supplementation before the onset of symptoms. However, adult patients and those born in countries without newborn screening programs for BD are at risk of being missed. Therapeutic success depends on early diagnosis and presymptomatic treatment.