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Background: Benign acute childhood myositis (BACM) is a transient condition mainly affecting children of school age characterized by muscle pain, typically localized to the calf muscle with symmetrical lower extremity pain and difficulty in walking. Usually, the symptomatology is preceded by a viral infection including influenza, parainfluenza, rotavirus, and mycoplasma., Methods: The case series was conducted in four pediatric hospitals in Catania, Italy, over a 12-year observational period. Clinical examination, laboratory data, course, treatment, and complications of the affected children were extracted from electronic medical records of each hospital., Results: For the case series, 50 children diagnosed with BACM were enrolled: the mean age of affected children was 5.35 years, 86% of were males, and in 56% the affections occurred during the winter. In the affected children, the clinical picture was characterized by previous fever and/or symptoms of inflammation of the upper airways, and followed by pain in the lower extremities up to uncoordinated gait. In 17 cases the etiological agent was isolated, including the influenza virus type B as the most frequent and influenza virus type A, Mycoplasma pneumoniae , beta-hemolytic streptococcus, and herpes simplex virus. Children were treated with supportive therapy. In all the children the muscular symptomatology had a good evolution with progressive marked reduction of pain and of the high level of CKemia. Neither clinical recurrences nor sequelae were reported., Conclusion: BACM shows to have in most of the cases a favorable evolution, a spontaneous remission of symptoms, and a good prognosis. However, the disorder generates parental distress for the acute presentation and the striking muscle dysfunction. It is worthy a rapid and early diagnosis to avoid unnecessary diagnostic investigations and a careful follow-up necessary to exclude persistence of symptoms or creatine kinase elevation., Competing Interests: None declared., (Thieme. All rights reserved.) more...

Vitamin B12 is a water-soluble vitamin that plays a fundamental role as an essential cofactor for two enzymes responsible for the production of succinyl-CoA and methionine. Vitamin B12 deficiency can occur in infants and may be related to the breastfeeding mother's adherence to a vegan diet or somatic diseases in the mother. It should be differentiated from inborn errors of vitamin B12 metabolism. Herein, we report the cases of three infants with West syndrome; all three were breastfed by mothers who followed a strict vegan diet. In one of the three infants, West syndrome developed during treatment with vitamin B12 and normalization of the vitamin B12 level. Early treatment and replacement therapy are worthwhile to prevent serious neurological problems and to improve the patient's clinical course., Competing Interests: None., (Thieme. All rights reserved.) more...

Poland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype., Competing Interests: The authors declare no conflict of interest., (Thieme. All rights reserved.) more...

Optic neuropathy consists of several etiological events. The primary etiologies of its acute form include optic neuritis, ischemic optic neuropathy, inflammatory (nondemyelinating) disorders, and trauma. Its subacute and chronic forms are most often linked to compressive, toxic, nutritional, or hereditary-genetic causes. Visual loss, dyschromatopsia, and visual field defects are the presenting symptoms. The Onodi cell (sphenoethmoidal air cell) is an anatomic variant located laterally and superior to the sphenoid sinus; it is closely related to the optic nerve. Onodi cell disorders are rare and may be unnoticed in differential diagnoses of patients with ocular and neurological manifestations. Here, we present the case of a 12-year-old boy with headache and acute loss of sight characterized by hemianopsia in the left eye and retrobulbar optic neuropathy caused by left sphenoethmoidal sinusitis with the presence of Onodi cell inflammation. The diagnosis was confirmed by multilayered paranasal computed tomography and cerebral magnetic resonance imaging. Therapeutic treatment resulted in gradual improvement: at the 2-week follow-up, the patient no longer had headaches and his visual acuity returned to normal. Inflammation of Onodi cells should be considered in children with headache and abnormal vision., Competing Interests: There is no conflict of interest., (Georg Thieme Verlag KG Stuttgart · New York.) more...

Background: Familial spinal neurofibromatosis is a form of neurofibromatosis 1 (NF1), consisting of extensive, symmetrical, histologically proven, multiple neurofibromas of the spinal roots at every level and of all major peripheral nerves sometimes associated with typical NF1 stigmata; most cases underlie NF1 gene mutations., Objectives: The objectives of this study are (1) to report the findings in a set of 16-year-old monozygotic twin girls and a 14-year-old boy and (2) to review the existing literature., Methods and Results: In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few café-au-lait spots with irregular margins and pale brown pigmentation; (3) were presented with, at brain magnetic resonance imaging (MRI), bilateral, NF1-like high-signal abnormalities in the basal ganglia; (4) yielded missense NF1 gene mutations in exon 39; and (5) had unaffected parents with negative NF1 genetic testing as well as discuss 12 families and 20 sporadic and 5 additional cases that presented spinal neurofibromatosis within classical NF1 families (53 cases) that were reported in the literature., Conclusions: This article presents the first report on (1) spinal neurofibromatosis in a set of affected monozygotic twins; (2) the earliest onset of the disease; and (3) the occurrence of high signal lesions in the brain at MRI., (Georg Thieme Verlag KG Stuttgart · New York.) more...

The hematologic disorder beta-thalassemia major is relatively common in Southern Italy. Stroke is a well described, though infrequently reported, complication of this disorder. We now report our experience regarding 300 children with beta-thalassemia major examined at the University of Catania, Italy, over a 20-year period. We encountered 9 patients (3%; 3 males, 6 females) with beta-thalassemia major who had hemorrhagic stroke. Two groups of patients can be identified: group 1 (2 patients 22%) with early-onset post-transfusion hemorrhage and group 2 (7 patients 77%) with delayed post-transfusion hemorrhage. In the first group, the hemorrhage occurred within 48 hours following blood transfusion. In the second group, hemorrhage occurred 7-15 days from last transfusion. In 5 patients out of 7 of this second group the first transfusion and ictal event both occurred after age five, suggesting prolonged chronic anemia might play a role in the hemorrhage. more...