ABSTRACT
OBJECTIVE: Inborn errors of metabolism (IEM) are rare conditions, with an overall incidence of 1 per 1000 births. Approximately 40-60% of IEM cases present with epilepsy as one of the main clinical presentations of the disease. A substantial number of these patients require timely and accurate diagnosis, besides specific treatment to prevent the irreversible outcomes. MATERIALS & METHODS: In this two-year retrospective study, a total of 128 patients with documented neurometabolic disorders were selected and evaluated in Mofid Children Hospital of Tehran, Iran, using a questionnaire to investigate the prevalence of epilepsy and seizure phenotypes. The collected data were evaluated in SPSS version 23. RESULTS: Seizure was reported in 49% (63/128) of the patients. A single episode of seizure occurred in 7 (7%) patients. The prevalence of epilepsy was estimated at 42% (54/128). The most common seizure types were generalized tonic-clonic (43%), tonic (22%), and myoclonic (10%), respectively. Epilepsy was refractory in 30% (16/54) of the patients, and the mean number of administered anti-seizure drugs for refractory cases was 3.2. Overall, 50% of refractory cases had mixed-type seizures, and 25% had generalized tonic-clonic and myoclonic seizures. CONCLUSION: Neurometabolic disorders are rare, but treatable causes of epilepsy. A considerable number of patients (42%) in the current study presented with epilepsy as a clinical feature of IEM.
ABSTRACT
OBJECTIVE: Poor bone health with related morbidity is a major problem with Duchene Muscular Dystrophy (DMD). Decreased mobility and long-term corticosteroid therapy are involved in poor bone health in DMD. We investigated bone mineral density and bone metabolism in 30 steroid treated DMD patients and also compared mentioned factors between ambulated and non-ambulated patients. MATERIALS & METHODS: In this cross-sectional study, 30 boys (21 patients ambulate and 9 non-ambulate) with documented DMD, according to genetic analysis, were enrolled in 2015. Demographic characteristics, neurologic exam findings, muscle function score, corticosteroid dose and duration and food frequency questionnaire were recorded. Bone mineral density was measured with dual- energy X-ray absorptiometry (DEXA) on lumbar spine and left proximal femur. Serum 25-hydroxyvitamin D, calcium, phosphorus and parathyroid hormone (PTH) levels were measured. RESULTS: Osteoporosis was found in 86.7% patients. Mean bone density in the lumbar spine was -1.5±0.24 and -1.4±0.27 in ambulates and non-ambulates respectively (P=0.7). Mean bone density at proximal femur was -3.4±0.2 in ambulates and -3.4±0.3 in non-ambulates (P =0.48). Intra-groups statistical analysis showed significant difference between bone mineral density at lumbar spine and proximal femur in both mentioned groups (P<0.05). Vitamin D deficiency was detected in 13 patients (43.3%) and its serum level was significantly lower in non-ambulates compared with ambulates. CONCLUSION: Considering high prevalence of vitamin D deficiency and osteoporosis in DMD patients, it seems vitamin D supplementation can improve vitamin D status and osteoporosis in these patients, especially in non-ambulates.
ABSTRACT
OBJECTIVE: Duchene and Becker Muscular Dystrophy (DMD/ BMD) are x-linked disorders that both are the result of heterogeneous mutations in the dystrophin gene. The frequency and distribution of dystrophin gene deletions in DMD/ BMD patients show different patterns among different populations. This study investigates the deletion rate, type, and distribution of this gene in the Azeri Turk population of North West Iran. MATERIALS &METHODS: In this study, 110 patients with DMD/ BMD were studied for intragenic deletions in 24 exons and promoter regions of dystrophin genes by using multiplex PCR. RESULTS: Deletions were detected in 63 (57.3%) patients, and around 83% localized in the mid-distal hotspot of the gene (on exons 44-52), 21 cases (33.3 %) with single-exon deletions, and 42 cases (66.6%) with multi-exonic deletions. The most frequent deleted exons were exon 50 (15 %) and exon 49 (14%). No deletion was detected in exon 3. CONCLUSION: This study suggests that the frequency and pattern of dystrophin gene deletions in DMD/ BMD in the Azeri Turk population of North West Iran occur in the same pattern when compared with other ethnic groups.
