Intracranial angiomatoid fibrous histiocytoma: report of a rare case

One rare and low-grade soft tissue tumor with intermediate malignant potential is angiomatoid fibrous histiocytoma (AFH) و which occurs mainly in children and adolescents. The tumor naturally tends to localrecurrence and recurrent hemorrhage but rarely to remote metastasis.AFH has been reported in different organs; however, there are rare reports of primary intracranial AFH. The diagnosis of AFH may be difficult due to its occurrence at multiple unusual anatomic sites and its spectrum of morphologic patterns; thus, it is especially importantto diagnose it correctly because of the small risk of metastasis and death. The lesion is simply confused with a hematoma, soft tissue hemangioma, or malignant fibrous histiocytoma from clinical and radiographical aspects.We report a case of intracranial AFH in a 5-year-old boy. The tumor is a heterogeneous intra-axial with a size of 78*73mm at the right front temporal. There was also an extra-axial mass measured 8*12mm at the left superior frontal lobe in favor of metastasis. The diagnosis was confirmed using radiographical, immunohistochemical, and molecular tests.AFH is a rare tumor with a high probability of misdiagnosis. Surgeons must be aware of the presence of AFH and conduct a careful followu

A Rare Presentation of Carnitine Palmitoyltransferase II (CPT-2) Deficiency With Normal Acylcarnitine Profile in a 10-Year-Old Boy With Muscle Weakness and Bilateral Hearing Loss

Carnitine palmitoyltransferase II (CPT-2) deficiency is a rare and autosomal recessive disorder of long-chains fatty acids oxidation. Here, we report a 10-year-old boy with a bilateral hearing loss and a myopathic form of CPT II deficiency which was confirmed under molecular genetic test analysis. He was admitted to our hospital with unexplained headache, vomiting, and fever. Furthermore, he developed seizures, muscle weakness, neck stiffness and pain, mild respiratory distress, and icteric appearance. The laboratory test results also showed sever elevated levels of lactate dehydrogenase (LDH) and Creatine phosphokinase (CPK). He had also icteric appearance with unexplained hyperbilirubinemia. Further examinations revealed normal heart, liver without neurological disorders. Muscle pathological examination reported normal pathology without neuromuscular and mitochondrial disorders and storage diseases. Finally, molecular test analysis with next generation sequencing (NGS) revealed a homozygous pathogenic variant in the CPT-II gene, c.338C>T p. (Ser113Leu) which was correlated to CPT-II deficiency fatty acid oxidation disorder. Furthermore, we identified a homozygous pathogenic variant in the ADGRV1 gene, c.15736C>T p.(Arg5246*), which suggest the Usher syndrome type 2C and the reason for sensorineural hearing loss in this case. Our finding indicates that CPT-II can be associated with multiple symptoms and clinical features. Therefore, evaluation of CPT-II deficiency with molecular test analysis may be helpful in cases with unexplained icteric appearance, muscle weakness and rhabdomyolysis.&nbsp

A Novel Mutation in Aspartoacylase Gene; Canavan Disease

How to Cite This Article: Ashrafi MR, Tavasoli AR, Katibeh P, Aryani O, Vafaee-Shahi M. A Novel Mutation In Aspartoacylase Gene; Canavan Disease. Iran J Child Neurol. Autumn 2015; 9(4): 54-57.AbstractObjectiveCanavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. Aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination and brain edema. Although CD is a very common in Ashkenazi Jews patients, several cases have been reported from non- Jewish population. This report is based on a homozygous C.202G>A mutation in the ASPA gene identified from an Iranian patient. To our knowledge, this type of mutation has not been reported in non-Jewish population in the literature

The first febrile seizure; predisposing factors and recurrence rate

  Objective Febrile seizure is the most common worrisome neurologic disorder in children in terms of parental point of view. The purpose of this study was to answer distressing parents’ questions about the prevalence and possibility of febrile seizure recurrence. Materials & Methods 140 patients who were admitted due to the first febrile seizure in the six months (March up to September) of the year 2015 were enrolled to this study. Exclusion criteria include central nervous system infection, non-confirmed febrile seizure and lack of parental acceptance for long-term inclusion in this study. All children were followed in terms of second febrile seizure during one year follow-up from the time of first febrile seizure. (3 sentences were deleted). Results Recurrence of febrile seizure was 25.7 % during one-year follow-up. Significant risk factors for recurrence include: age less than one year old, male gender, seizure with low level of fever, family history of epilepsy, family history of febrile seizure, complex febrile seizure (focal and repeated in 24 hours), seizure duration more than 15 minutes and parental indifference to the onset of fever in their children before seizure occurrence. Although duration of fever before seizure, failure to thrive, positive history of admission in neonatal period, dystocia atbirth delivery and children with day care staying were associated with greater febrile seizure recurrence; but, they did not have significant relationship with recurrence rate. Prophylaxis with benzodiazepine reduced the recurrence rate. Conclusion Chance of febrile seizure recurrence in one-year follow-up increased in presence of risk factors expressed in finding part. parental indifference to the onset of fever in their children that is starting before seizure was a considerable risk factor in terms of recurrence prevalence. We recommended to emphasis on parental education about this new finding as a risk factor for febrile seizure in order to prevent its future recurrence