Search results for "juvenile"

Histiocytosis with mixed cell populations

2016

Langerhans cell histiocytosis (LCH) and juvenile xanthogranuloma (JXG) are thought to originate from a common stem cell precursor, with divergent differentiation under different microenvironmental conditions. We describe an exceptional case of multiple cutaneous lesions in a 10-year-old boy, in which the coexistence of both LCH and JXG cell populations is found in every single lesion. The presence of Birbeck granules and CD207 (langerin) immunostaining in the LCH component would argue against the diagnosis of indeterminate cell histiocytosis (ICH). This unique case gives additional support to the hypothesis of a potentially common histogenesis for LCH and JXG.

Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distributio…

2017

Abstract: Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis) is a rare, progressive, autosomal recessive disorder whose main hallmark is the deposition of amorphous hyaline material in soft tissues, with an evolutionary course and health impairment. It may present involvement of subcutaneous or periskeletal soft tissue, or may develop as a visceral infiltration entity with poor prognosis. Very few radiological data about this inherited condition have been reported, due to the extreme rarity of disease. We herein present a case of two siblings, affected by different severity of the disease, with different clinical features. They were examined by whole-body MR (WBMR) in order to as…

Electron microscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis.

1987

Skin and lymphocytes of three patients with early juvenile neuronal ceroid-lipofuscinosis (NCL) were ultras trueturally investigated. Fingerprint profiles (FPP), isolated and I or mixed with curvilinear profiles (CLP), in various dermal cells and large, usually single lipopigments delineated by a trilaminar membrane and filled with a granular matrix, FPP and occasionally lipid droplets in lymphocytes were observed in all three patients. Characteristic lipopigments in lymphocytes are an important feature to differentiate between early juvenile NCL and late infantile and juvenile NCL.

Nonepithelial skin tumors with multinucleated giant cells

2013

Recognition of the different types of multinucleated giant cells in neoplastic and pseudotumoral lesions of the skin may be helpful in the differential diagnosis of these tumors. In this review, we will analyze the different types of multinucleated giant cells that can be found in nonepithelial cutaneous tumors and, more importantly, the clinicopathological context in which they are found. Touton giant cells are typically present in juvenile xanthogranuloma, necrobiotic xanthogranuloma, and some subtypes of xanthomas. Giant cells with a ground glass appearance are typically present in the solitary reticulohistiocytoma and multicentric reticulohistiocytosis. Osteoclast-like cells are found i…

Progressive cerebellar ataxia in juvenile GM 2 -gangliosidosis type Sandhoff

1998

Prevalence of red ear syndrome in juvenile primary headaches.

2010

Background: Previous studies have suggested a relationship between ‘red ear syndrome’ (RES) and pediatric migraine. Aims of this study were (i) to assess the frequency, specificity and sensitivity of RES in a population of pediatric migraineurs and (ii) to establish the pathophysiological mechanisms of RES associated with migraine. Methods and results: A total of 226 children suffering from headache (aged 4–17 years) were enrolled. One hundred and seventy-two (76.4%) were affected by migraine, the remaining 54 (23.6%) by other primary headaches. RES was followed significantly more frequently by migraine (23.3%; p < .0001), and was characterized by high specificity and positive predictiv…

Atypical presentation of anti-N-methyl-D-aspartate receptor encephalitis: two case reports

2017

Abstract Background Anti-N-methyl-D-aspartate receptor encephalitis is a rare autoimmune disease characterized by severe neurological and psychiatric symptoms and a difficult diagnosis. The disease is often secondary to a neoplastic lesion, seldom diagnosed years later. Psychiatric symptoms are prevalent in adults; neurologic symptoms are more evident in children, who typically present primarily with neurological symptoms. To the best of our knowledge, the association with juvenile idiopathic arthritis has not been described. Case presentation We report the cases of two caucasian girls with an atypical presentation. The first patient was an 8-year-old girl with normal psychomotor developmen…

Clinical and Genetic Aspects of Juvenile Onset Pompe Disease

2021

AbstractLittle is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family histor…

1035 The International Registry for Niemann-Pick Disease Type C (NP-C) in Clinical Practice

2012

Background and Aim An international disease registry was started in September 2009 to evaluate the long-term disease course of NP-C in clinical settings. Methods Descriptive data from enrolment are presented for all patients with available data who were included in the Registry as of 19 th August 2011. Results 121 patients have been enrolled. The median (range) age at enrolment was 16.9 (0.9−56.6) years, age at onset of neurological manifestations was 8.2 ( Conclusions Over two-thirds of this NP-C cohort had infantile or juvenile onset of neurological manifestations; neonatal jaundice was observed more frequently in these patients versus adolescent/adult-onset patients.

Host searching in Argulus foliaceus L. (Crustacea: Branchiura): the role of vision and selectivity.

1998

In laboratory experiments, the swimming behaviour of the ectoparasite Argulus foliaceus and its infection rates on juvenile perch (Perca fluviatilis) and roach (Rutilus rutilus) were examined. The highest infection rate and a preference for perch juveniles were obtained in darkness, the lowest infection rate and a lack of preference in the light, when aquaria with glass walls (high reflectivity) were used. In the light, when aquaria were lined with black plastic (low reflectivity) an intermediate level of infection for perch and the highest for roach was recorded. Under such conditions roach were significantly more heavily infected than perch; an attack rate 4 times greater was recorded for…