Intrathecal baclofen therapy after liver transplant in a patient with Crigler-Najjar syndrome.

Crigler-Najjar syndrome (CNS) is described as severe infantile, nonhemolytic, unconjugated hyperbilirubinemia and is divided into type I and type II according to the patient's response to phenobarbital treatment. Patients with type I CNS usually require a liver transplant. These patients often have spasticity and dystonia, both of which can be treated with intrathecal baclofen therapy. We present the case of a patient with CNS type I who underwent a liver transplant followed years later by intrathecal baclofen therapy. To our knowledge, this article provides the first report of a patient with CNS being treated for dystonia with an intrathecal baclofen pump. Despite his complicated history, this patient has remained medically stable after both interventions.

Treatment of classic pantothenate kinase-associated neurodegeneration with deferiprone and intrathecal baclofen.

Neurodegeneration with brain iron accumulation (NBIA) describes a heterogeneous family of diseases characterized by high brain iron, particularly in the basal ganglia. The most common manifestation of childhood NBIA is classic pantothenate kinase-associated neurodegeneration (PKAN), a severe, progressive type of autosomal recessive neuroaxonal dystrophy characterized by early onset of symptoms (as opposed to atypical PKAN, with an average age of onset of 14 yrs). There is currently no established therapy for the disease. Intrathecal baclofen has been reported to improve ease of care and dystonia in patients with PKAN. Deferiprone, an iron chelator, has been shown to be safe and tolerable in patients with PKAN as well as effective in reducing brain iron accumulation, as measured by magnetic resonance imaging. This case report highlights the potency of combining intrathecal baclofen and oral deferiprone in a patient with classic PKAN. Although treatment with deferiprone alone was not attempted, this combination therapy seems to be more efficacious than treatment with only intrathecal baclofen.

The rehabilitation of children with anti-N-methyl-D-aspartate-receptor encephalitis: a case series.

Anti-N-methyl-D-aspartate (NMDA)-receptor encephalitis is a serious, complex, and potentially fatal disease in children. Children with this condition frequently present with altered mental status, rapid functional deterioration, and seizures. Despite aggressive treatment with immune therapy such as corticosteroids, intravenous immunoglobin, and plasmapheresis, children often need extensive rehabilitative services and can be left with lasting deficits. In this case series, we report on six known consecutive pediatric cases of N-methyl-D-aspartate-receptor antibody encephalitis in Northern California requiring comprehensive inpatient rehabilitation. The children presented with a variety of symptoms and had waxing and waning clinical courses. All children progressed well through their rehabilitation programs but were discharged home with persistent functional deficits. At follow-up, all but one child had lasting deficits. Because of the complicated management and extensive rehabilitation needs of children with anti-N-methyl-D-aspartate-receptor encephalitis, physiatrists and other rehabilitation providers should be knowledgeable about this complex condition.