Acute cerebellar ataxia as the first manifestation of Imerslund-Gräsbeck syndrome

Imerslund-Grasbeck syndrome is a rare condition caused by Vitamin B12 deficiency and proteinuria. In this article, we reported a 10-year-old girl with imbalance and urinary incontinence. This case had cerebellar ataxia as the first manifestation. The disequilibrium had been progressed gradually wihin 3 weeks and was consistent with the symptoms of cerebellar involvement and urinary incontinence. Brain and cervicothoraco lumbar MRI was normal. In labratoary examinations, in addition to macrocytic anemia the patient had elevated lactate dehydrogenase (4775) so the possibility of malignancy raised, therefore bone marrow aspiration performed, In bone marrow examination hypercellular marrow with megaloblastic changes observed. This data proved megaloblastic anemia. Investigation of serum levels of vitamin B12 showed it was lower than normal range and the patient had significant proteinuria with normal nephrologic investigations. gasterointestinal tract study showed no evidence of serious problem and metabolic studies were normal . Finally, based on datas, Imerslund-Gräsbeck syndrome was recognized. Patient treated  by Vitamin B-12 Injection and it  led to improvement of balance, so that, after a month, He was able to walk and the cerebellar symptoms were greatly gone however proteinuria persists

Levetiracetam (levebel) Versus Carbamazepine Monotherapy for Focal Epilepsy in Children

Focal epilepsy is one of the most prevalent type of seizures in childhood. In this study we will compare the effect of new approved drug leveitiracetam versus carbamazepine in the treatment of focal epilepsy.Methods and Materials: we studied  newly diagnosed  children with focal epilepsy (in the age range of 1-16). The children were treated randomly with two drug levetiracetam and carbamazepine. Patients have been followed for seizure and drugs side effects at intervals of 1 month and six months. We checked liver function tests and complete blood count for all patients and they asked about any significant side effects such as drowsiness، restlessness and skin reaction. Eventually, they were classified in two groups of 25 consuming levetiracetam and 25 consuming carbamazepine.Results:In our study, two cases were excluded in levetiracetam group because of sever agitation and 3 patients (13%) had relapsing seizures. In the group of carbamazepine,10 patients(40%) had relapse. Seizure was not repeated in 15 (60%) and 20 (87%) cases in  carbamazepin and levetiracetam  groups, respectivelly. chi square examination  showed that the responses to treatment had significant differences (P=0.03). Agitation and drowsiness  were the most prevalent complication in levetiracetam and carbamazepine groups, respectivelly. Fortunately ،liver enzyme dysfunction and blood cell disturbance were observed in none of the groups. Conclusion: According to findings, there were significant differences in controlling  seizures  between two groups that implicate much more influence of levetiracetam (87%) in suppression of focal seizure

Griscelli Syndrome: A Case Report

How to Cite This Article: Mansouri Nejad SE, Yazdan panah MJ, Tayyebi Meibodi N, Ashrafzadeh F, Akhondian J, BeiraghiToosi M, Eslamieh H. Griscelli Syndrome: A Case Report. Iran J Child Neurol. 2014 Autumn;8(4): 72-75.ObjectiveGriscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.ReferencesKharkar V, Pande S, Mahajan S, Dwiwedi R, Khopkar U. Griscelli syndrome: a new phenotype with circumscribed pigment loss? Dermatol Online J 2007 1;13(2):17.Sheela SR, Latha M, Susy JI. Griscelli syndrome: Rab 27a mutation. Indian Pediatrics 2004; 41:944-947.González Carretero P, Noguera Julian A, Ricart Campos S, Fortuny Guasch C, Martorell Sampol L. Griscelli-Prunieras syndrome: report of two cases. An Pediatr (Barc) 2009 ; 70(2):164-7.Szczawinska-Poplonyk A, Kycler Z, Breborowicz A, Klaudel-Dreszler M, Pac M, Zegadlo-Mylik M, et al. Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. Viral Immunol 2011 Dec;24(6):471-3.Durmaz A, Ozkinay F, Onay H, Tombuloglu M, Atay A, Gursel O, et al. Molecular analysis and clinical findings of Griscelli syndrome patients. J Pediatr Hematol Oncol 2012 Oct;34(7):541-4.Reddy RR, Babu BM, Venkateshwaramma B, Hymavathi Ch. Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. Int J Trichology 2011; 3(2):107-11.Sahana M, Sacchidanand S, Hiremagalore R, Asha G. Silvery grey hair: clue to diagnose immunodeficiency. Int J Trichology 2012;4(2):83-5.Mahalingashetti PB, Krishnappa MH, Kalyan PS, Subramanian RA, Padhy S. Griscelli syndrome: hemophagocytic lymphohistiocytosis with silvery hair. J Lab Physicians 2012 Jul;4(2):129-30.Schuster F, Stachel DK, Schmid I, Baumeister FA, Graubner UB, Weiss M, et al. Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT. Bone Marrow Transplant 2001; 28:409-12.Shamsian BS, Nikoufar M, Esfahani SA, Shamshiri AR, Arzanian MT, Alavi S, et al. A 10-year single center survey of pediatric patients with histiocytic disorders in Iran. Turk J Pediatr 2011; 53(1):34-42.

Is Ceftizoxime an Appropriate Surrogate for Amikacin in Neonatal Sepsis Treatment? A Randomized Clinical Trial

Neonatal sepsis, a life-threatening condition, presents with non-specific clinical manifestations and needs immediate empirical antimicrobial therapy. Choosing an appropriate antibiotic regimen covering the most probable pathogens is an important issue. In this study we compared the effectiveness of ceftizoxime and amikacin in the treatment of neonatal sepsis both in combination with ampicillin. In a randomized clinical trial, all term neonates with suspected sepsis referred to Bahrami hospital during March 2008 to March 2010 were evaluated. Patients were randomly recruited into two groups; one group receiving ampicillin and amikacin and the other ampicillin and ceftizoxime. Blood, urine and cerebrospinal fluid cultures, leukocyte count and C-reactive protein level were measured in all neonates. A total of 135 neonates were evaluated, 65 in amikacin group and 70 in ceftizoxime group. 60 neonates (85.7%) in ceftizoxime group and 54 neonates (83.1%) in amikacin group responded to the treatment (P= 0.673 and χ2 = 0.178). Only 24 (18%) blood samples had a report of positive blood culture. The most frequent pathogen was coagulase negative staphylococcus with the frequency of 58.32% of all positive blood samples. Ceftizoxime in combination with ampicillin is an appropriate antimicrobial regimen for surrogating the combination of ampicillin and amikacin to prevent bacterial resistance against them