جستجوی مقالات مرتبط با کلیدواژه « Neurometabolic Disorders » در نشریات گروه « پزشکی »

Gangliosidosis is one of the hereditary metabolic diseases caused by the accumulation of Gangliosid in the central nervous system, leading to severe and progressive neurological deficits. Regarding phenotype, GM1 and GM2-Gangliosidosis are divided into Infantile, Juvenile, and Adult.

In this study, thirty-seven patients with GM1 and GM2-Gangliosidosis were referred to the neurology department of Mofid Children’s Hospital in Tehran, Iran, whose disease was confirmed from September 2019 to December 2021. This study assessed age, sex, and developmental status before the onset of the disease, clinical manifestations, brain imaging, and electroencephalography.

97.20% of patients were the result of family marriage. Approximately 80% of juvenile patients were developmentally normal before the onset of the disease. Developmental delay was more common among infantile GM1-Gangliosidosis than infantile GM2-Gangliosidosis, but in total, more than 50% of GM1&GM2-Gangliosidosis patients had reached their developmental milestone before the onset of the disease. With the onset of disease symptoms, 100% of patients regressed in terms of movement, 97.20% of them mentally, and 75% of them had seizures during the disease. The most common clinical findings were cherry-red spot, Mongolian spot, macrocephaly, organomegaly, hyperacusis, and scoliosis. The most common brain imaging findings included bilateral thalamus involvement, brain atrophy, PVL, and delayed myelination. The most common finding in electroencephalography was background low voltage with abnormal sharp waves.

This study concluded that most of the patients are the result of family marriage, and most of the juvenile patients are developmentally normal before the onset of the disease. In addition, more than 50% of infantile patients reach their developmental milestones before the onset of the disease. The most common clinical findings of these patients are seizures, cherry-red spot, macrocephaly, hyperacusis, Mongolian spot, and bilateral involvement of the thalamus.

Neurometabolic disorders are hereditary conditions mainly affect the function of the brain and the nervous system. The prevalence of these disorders is 1 in 1,000 live births. Such disorders, at different ages, could manifest as sepsis, hypoglycemia, and other neurologic disorders. Having similar manifestations leads to delayed diagnosis of neurometabolic disorders. A number of neurometabolic disorders have known treatments; however, to prevent long-term complications the key factors are early diagnosis and treatment. Although a large number of neurometabolic diseases have no treatment or cure, the correct and on-time diagnosis before death is important for parents to have plans for prenatal diagnosis. Different diagnostic procedures could be offered to parents, enzymatic procedures, and determining metabolites in plasma, urine, and CSF, and molecular genetic diagnosis. Molecular genetic diagnostic procedures are expensive and could not be offered to all parents. Therefore, we aimed to design algorithms to diagnose neurometabolic disorders according to some frequent and characteristic signs and symptoms. By designing these algorithms and using them properly, we could offer diagnostic enzymatic panels. These enzymatic panels are inexpensive; thereby reducing the financial burden on the parents. Also, having an early diagnosis according to these panels could lead to offering more accurate and less expensive molecular genetic tests.

Objective:

Although in born errors of metabolism are rare, but total prevalence is . approximately 40-60% of IEM (inborn errors of metabolism)may present with epilepsy as one of the main clinical presentations and substantial number of them have specific treatment and obligates timely and appropriate diagnosis to prevent irreversible insults.

Materials of methods:

Two years retrospective review of 128 documented neurometabolic patients, selected and evaluated  in the mofid children hospital, tehran, Iran according to pre-prepared questionnaire to investigate epilepsy prevalence and seizure phenotype.the results were evaluated using spss version 23.

results:

Seizure was reported in 49% (63/128)  of all patients. The seizure was single episode in 7 patients (7%) .epilepsy prevalence was 42%(54/128) .The most common seizure types were GTC (43%), tonic (22%) and myoclonic (10%) respectively. Epilepsy was medically refractory in 30% () and mean Anti -seizure drug number administered for refractory cases was 3.2. 50% of refractory cases had mixed type seizures and 25% GTC and myoclonic seizures. 

Conclusion:

Neurometabolic disorders are rare but treatable etiology of epilepsy and considerable percent of them 42%(current study) present epilepsy as part of clinical featureKey words: inborn errors of metabolism,neurometabolic disorders,epilepsy

We aimed to investigate the clinical and para clinical manifestations of neuro metabolic disorders, in patients who presented by neuro developmental delay in their neuro developmental milestones.
The patients diagnosed as neuro developmental delay and regression with or without seizure at the Neurology Department of Mofid Children Hospital in Tehran, Iran between 2004 and 2014 were included in our study. These patients diagnosed as neuro developmental delay by pediatric neurologists in view of diagnostic /screening neuro developmental assessment tests. The patients who completed our inclusion criteria as neuro metabolic disorders were evaluated in terms of metabolic and genetic study in referral lab.
Overall, 213 patients with neurometabolic disorders were diagnosed. 54.3% of patients were male. The average age of patients was 41 +46.1 months. 71.4% of parent’s patients had consanguinity of marriages. Eighty seven percent of patients had developmental delay (or/and) regression. 55.5% of them had different type of seizures. Overall, 213 patients with 34 different neurometabolic disorders were diagnosed and classified in the 7 sub classes, consisting of:1- organic acidemia and aminoacidopathy (122 patients), 2-storage disease (37 patients) 3- eukodystrophy (27 patients), other classes consisted: lipid oxidation disorders, urea cycle disorders, progressive myoclonic epilepsy; and peroxizomal disorders (27 patients).
Conclusion; In patients with developmental delay or regression, with or without seizure, abnormal neurologic exam along with positive family history of similar disorder or relative parents, abnormal brain imaging with specific patterns, neurometabolic disorders should be considered as one of the important treatable diseases.

Neurometabolic disorders are an important group of diseases that mostly are presented in newborns and infants. Neurological manifestations are the prominent signs and symptoms in this group of diseases. Seizures are a common sign and are often refractory to antiepileptic drugs in untreated neurometabolic patients. The onset of symptoms for neurometabolic disorders appears after an interval of normal or near normal growth and development.Additionally, affected children may fare well until a catabolic crisis occurs. Patients with neurometabolic disorders during metabolic decompensation have severe clinical presentation, which include poor feeding, vomiting, lethargy, seizures, and loss of consciousness. This symptom is often fatal but severe neurological insult and regression in neurodevelopmental milestones can result as a prominent sign in patients who survived. Acute symptoms should be immediately treated regardless of the cause. A number of patients with neurometabolic disorders respond favorably and, in some instances, dramatically respond to treatment. Early detection and early intervention is invaluable in some patients to prevent catabolism and normal or near normal neurodevelopmental milestones. This paper discusses neurometabolic disorders, approaches to this group of diseases (from the view of a pediatric neurologist), clinical and neurological manifestations, neuroimaging and electroencephalography findings, early detection, and early treatment.

GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay–Sachs and Sandhoff disease). These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creatinghexosaminidases A، B، and AB. Patients who were diagnosed withGM2-Gangliosidosis in the Neurology Department of Mofid Children’s Hospital in Tehran، Iran from October 2009 to February 2014were included in our study. The disorder was confirmed by neurometabolic and enzyme level detection of hexosaminidases A، B، and ABin reference to Wagnester Laboratory in Germany. We assessed age، gender، past medical history، developmental status، clinical manifestations، and neuroimaging findings of 9 patients with Sandhoff disease and 9 with Tay Sachs disease. 83% of our patients were the offspring of consanguineous marriages. All of them had a developmental disorder as a chief complaint. 38%of patients had a history of developmental delay or regression and 22% hadseizures. The patients with Sandhoff and Tay Sachs disease were followed for approximately 5 years and the follow-up showed all patients were bedridden or had expired due to refractory seizures، pneumonia aspiration، or swallowingdisorders. Neuro-imaging findings included bilateral thalamic involvement، brain atrophy، and hypo myelination in near half of our patients (48%). According to the results of this study، we suggest that cherry-red spots، hyperacusis، refractory seizures، and relative parents in children with developmental delay and/or regression should be considered for assessment of GM2-Gangliosidosis disease.