فهرست مطالب toktam moosavian

Dihydrolipoamide dehydrogenase (DLD) deficiency is a rare disease of genetic origin due to the malfunctioning of a shared subunit of three mitochondrial multi-enzyme complexes. Phenotypes of this disease are a set of clinical manifestations ranging from neonatal disorders to myopathy or recurrent episodes of liver failures, and vomiting for which no adequate or definitive treatment is currently available.
This study described a case involving a 16-year-old boy who had experienced recurrent vomiting of unknown cause from age two. Normal value ranges for the basic metabolic panel were reported in previous years. The patient was admitted with Wernicke’s encephalopathy after the last vomiting attack, also indicating metabolites of organic acids compatible with DLD deficiency. Whole exome sequencing identified a known pathogenic mutation in the DLD gene, leading to a diagnosis of DLD deficiency. Our patient was treated with a high dose of thiamine supplementation and continued treatment, has not experienced any vomiting attacks or related problems in the last two years and has adequately responded to the treatment prescribed.
Normal urine organic acid levels in patients with recurrent vomiting cannot roll out DLD deficiency. However, although thiamine deficiency typically induces Wernicke’s encephalopathy, it can also be implicated in pyruvate dehydrogenase complex (PDHc) deficiency, and high-dose thiamine therapy (with doses up to 30 mg/ kg) is recommended for deficient patients.

Migraine, one of the most common headaches in children, has a significant impact on children and their family’s quality of life (QoL). There are two approaches for controlling migraine headaches preventative and controlling acute attacks. Several drugs have been used for this purpose, and tricyclic antidepressants were at the top. Amitriptyline has shown not only a desirable effect on controlling the headaches but also some adverse side effects. Recently, finding effective drugs with fewer side effects, become more critical. Among them, nutraceuticals were one of the promising ones.

In this randomized clinical trial on 72 patients aged 5–15 years old with diagnosis of migraine based on the International Headache Society criteria, we compare the effectiveness of coenzyme Qten on frequency, duration, and severity of childhood migraine. For comparing the QoL, we used the International PedMIDAS questionnaire.

Coenzyme Qten showed good therapeutic effects in children, especially in long‑term use; however, amitriptyline showed more rapid response. After 3 months of treatment, clinical outcomes in the two groups did not significantly differ from each other. Similarly, Children’s QoL increased in the same way. There are more reported side effects in children using amitriptyline compared to coenzyme Qten.

According to results, Co‑enzyme Q10, with fewer side effects and comparable therapeutic effects, especially in the long term, could be a good drug for prophylactic treatment of migraine headaches.

Acute Spinal Subdural Hematoma (ASSH) is a rarely recognized condition that may result in severe irreversible neurologic complication. We presented a 7-year old girl was transferred to our hospital with limping and pain in lower extremities and acute paraplegia without history of direct trauma. The patient's lower limbs weakened. She was unable to bear weight. Deep Tendon Reflexes(DTR) in lower extremities had increased. Her MRI showed spinal subdural hematoma we reextended from T2 to T6. We performed laminectomy from T2 to T5 and about 70 cc of subdural hematoma was evacuated. After a month after the operation, the patient's neurological deficit resolved completely. The case illustrates the need of attention to clinical manifestation of acute spinal subdural hematoma and early diagnosis to prevent irreversible neurologic complication.

Here we report a 5-month-old boy with thiamine Responsive Megaloblastic Anemia syndrome (TRMA syndrome) with several attacks of stroke. In addition to the cardinal clinical manifestations of the syndrome (thiamine-responsive megaloblastic anemia, diabetes mellitus, and sensor neural hearing loss), the patient showed the ischemic attack of stroke. Megaloblastic anemia and Diabetes were diagnosed at 8 months and was successfully treated with vitamin and insulin prescription. After treatment of thiamine diabetes was controlled and insulin was discontinued. In spite of the thiamine administration, the second stroke as hemorrhagic stroke was occurred in the patient after a few months. TRAMA is inherited in an autosomal recessive manner. TRMA was confirmed by mutation in SLC19A2. A homozygous splice site variant was detected in SLC19A2 gene. According to our knowledge stroke was not reported in this syndrome (only in one report about one attack in an adult patient) but in this patient several attacks of stroke was report before and after thiamin administration.