Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale
Adolescent; Adult; Age of Onset; Carrier Proteins/ge [Genetics]; Cerebellar Ataxia/di [Diagnosis]; Cerebellar Ataxia/ep [Epidemiology]; Cerebellar Diseases/di [Diagnosis]; Cerebellar Diseases/ep [Epidemiology]; Child; Preschool; Comorbidity; Disability; Evaluation; Dysarthria/di [Diagnosis]; Dysarthria/ep [Epidemiology]; Female; Genetic Predisposition to Disease/ge [Genetics]; Infant; feeding difficulties; sleep disturbance; tone and motor problems; NPC; tool development; scale development
OBJECTIVES: To describe the clinical evolution of Niemann-Pick C disease to identify possible factors involved in the diagnosis and severity of the disease. METHODS: A clinical database and a severity scale was created to evaluate 45 patients diagnosed with Niemann-Pick type C in the last 28 years in Spain. RESULTS: Complete clinical data were obtained from 30 patients, all were confirmed to have mutations in the NPC1 gene. Regarding clinical form, 3 were perinatal, 7 severe infantile, 6 late infantile, 11 juvenile and 3 adult. Biochemical phenotype was classic in 26. Splenomegaly was present in 28 patients (93%) with a wide range of age at detection. The first symptom of neurological disease was clumsiness, followed in 2-4 years by cerebellar signs. Ophthalmoplegia appeared 2-4 years later and became complete 1-2 years after onset. Dysarthria appeared by the time of complete ophthalmoplegia. Diagnosis was made before the onset of neurological signs in patients with the severe infantile form, at the time of onset of cerebellar signs in the late infantile form and complete ophthalmoplegia in late onset forms. CONCLUSIONS: In our series, splenomegaly is present in 96% of patients, even in late onset forms during the first years of life. Clumsiness in children with otherwise normal motor development precedes the onset of ataxia by 2-4 years in Niemann Pick type C. A disability scale could be useful for monitoring evolution, establishing possible phenotypic correlations and evaluating future therapies.
Iturriaga C; Pineda M; Fernandez-Valero E M; Vanier M T; Coll M J
Journal of the Neurological Sciences
2006
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/j.jns.2006.05.054" target="_blank" rel="noreferrer noopener">10.1016/j.jns.2006.05.054</a>
Neurological palliative care in children
palliative therapy; adolescent; Adult; Child; chromosome aberration; Controlled Study; Female; Home Care; hospice; Human; Icd-10; infant; major clinical study; Male; metabolic disorder; mortality; neoplasm; nervous system malformation; neurology; preschool child; retrospective study; Statistics
Background: The Centre for Pediatric Palliative Care at the Medical Center of the University of Munich is one of the largest in Germany. Care is provided yearly to 90-100 children with advanced lifelimiting diseases living at home (at a distance of up to 150 km from the Center) and since 2016 also on a dedicated 8-beds palliative care inpatient unit, the first at a German University Hospital. Objective: Clinical experience suggests an important role of neurological disorders and neurological symptoms in pediatric palliative care. Patients and Methods/Material and Methods: We conducted a retrospective survey of 212 patients (median age 5.7 years, interquartile range [IR] 10.9) followed between 2009-2015 by the specialized pediatric palliative home care (SPPHC) team of the Center. Results * The main ICD-10 groups were nervous system, congenital abnormalities, neoplasia and metabolic disease, reflecting the German mortality statistics for patients 1-20 years. * The cumulative duration of SPPHC was 3.5 months (IR: 7.7). * Seventy-five percent of patients (N=160/212) suffered from neurological problems including neuromuscular conditions (n=17, 8%). Primary neurologic diseases were present in 70 patients. Neurological involvement, often severe, was seen in 96% of patients with metabolic diseases (n=24/25), 60% of patients with congenital/ chromosomal abnormalities (n=39/65), and 53% of tumor patients (n=25/47). * Eighty-four percent of patients died at home, 12% in hospital and 4% in a hospice, with 96% dying at their preferred place. Conclusion This data shows the pivotal importance of neurological diseases and symptoms in pediatric palliative care. Child neurology expertise should therefore be an integral part of any pediatric palliative care team. More research is needed in this area.
2017
Fuhrer M
Journal Of The Neurological Sciences
2017
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/j.jns.2017.08.093" target="_blank" rel="noreferrer">10.1016/j.jns.2017.08.093</a>