Search results for "Juvenile onset"
showing 4 items of 4 documents
Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease.
2018
Abstract Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase. In addition to the severe infantile form with cardiac involvement, late-onset variants can affect older children, adolescents (aged >1 year old) or adults. Patients with juvenile (a subgroup of late-onset type) Pompe disease typically do not have cardiac alterations e.g. hypertrophic cardiomyopathy, and the diagnosis is often difficult because it can clinically resemble myriad other neuromuscular disorders. A high level of clinical suspicion is necessary for a timely and accurate diagnosis. We describe 3 interesting cases of patients with juvenile-onset Pompe disease who presented some un…
Migraine headaches in adolescents: a five-year follow-up study
2002
Background and Objectives.—Longitudinal studies of juvenile migraine are very few. We investigated the prevalence and evolution over 5 years of migraine without aura (MWOA) and migraineous disorder (MD) in an adolescent population. Methods.—Sixty-four subjects (34 girls and 30 boys, mean age 17.3±1.1 years) out of 80 selected in our 1989 epidemiological survey were included in the study. The diagnostic criteria of the International Headache Society were used in both studies. Results.—Thirty-two of 64 subjects (50%) had MWAO, 18 (28.1%) had MD, and 14 (21.9%) had headache not classifiable (HnC). Our results show that MWOA persisted in 56.2%, converted to MD or HnC in 9.4% and 3.1% of cases, …
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
2021
AbstractLittle is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family histor…
1035 The International Registry for Niemann-Pick Disease Type C (NP-C) in Clinical Practice
2012
Background and Aim An international disease registry was started in September 2009 to evaluate the long-term disease course of NP-C in clinical settings. Methods Descriptive data from enrolment are presented for all patients with available data who were included in the Registry as of 19 th August 2011. Results 121 patients have been enrolled. The median (range) age at enrolment was 16.9 (0.9−56.6) years, age at onset of neurological manifestations was 8.2 ( Conclusions Over two-thirds of this NP-C cohort had infantile or juvenile onset of neurological manifestations; neonatal jaundice was observed more frequently in these patients versus adolescent/adult-onset patients.