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Objective: The aim was to identify the influence of insulin-like growth factor I (IGF-1), IGF-binding protein-3 (IGFBP-3), and bone age (BA)/chronological age (CA) ratio on the response to GH therapy after 1 and 2 years of treatment and upon reaching final height., Methods: Longitudinal, retrospective, observational study of 139 patients treated for idiopathic growth hormone deficiency. Variables examined during follow-up: (1) genetic background; (2) perinatal history; (3) anthropometry; (4) height velocity, BA, BA/CA and height prognosis; (5) analytical results (IGF-1, IGFBP-3). Final response variables: adult height (AH), AH with respect to target height, AH with respect to initial height prognosis, AH with respect to height at the start of treatment, and AH with respect to height at onset of puberty., Results: Lower pretreatment IGF-1 levels and a greater increase in IGF-1 at the end of treatment imply a better response (r = -0.405, P = .007 and r = 0.274, P = .014, respectively), as does a greater increase in IGFBP-3 after 2 years of treatment and at the end of treatment (r = 0.207, P = .035 and r = 0.259, P = .020, respectively). A lower BA/CA ratio pretreatment and at the onset of puberty results in a better response (r = -0.502, P = .000 and r = -0.548, P = .000, respectively), as does a lower increase in BA and BA/CA ratio after the 1 and 2 years of treatment (r = -0.337, P = .000 and r = -0.332, P = .000, respectively)., Conclusion: Low pretreatment IGF-1, a greater BA delay with respect to CA pretreatment and at the onset of puberty, a greater increase in IGFBP-3 after 2 years of treatment, and a lower increase in BA and BA/CA ratio after 1 and 2 years of treatment imply a better long-term response., Competing Interests: Disclosure The authors have no multiplicity of interest to disclose., (Copyright © 2023 AACE. Published by Elsevier Inc. All rights reserved.)

Background: Metabolic control and psychological management of paediatric type 1 diabetes mellitus (T1DM) can be challenging over time. Development of an instrument to assess the youth-reported burden could aid in preventing T1DM-associated diseases., Methods: The aim of this study was to translate and validate the Spanish version of the Problem Area in Diabetes Survey-Pediatric version (PAID-Peds). A multicentre, cross-sectional translation and linguistic validation study was performed on a sample of 30 participants aged 8-17 years with a minimum 1-year history of T1DM diagnosed at the Miguel Servet University Hospital in Zaragoza (Aragon, Spain), Ramón y Cajal University Clinical Hospital in Madrid (Spain), and Sant Joan de Déu Hospital in Barcelona (Catalonia, Spain). The qualitative validation consisted of translation into Spanish and back-translation into English of the Paid-Peds survey and subsequent administration to the sample population. Data were gathered on parameters related to sociodemographic characteristics and metabolic control. Validity, feasibility, and test-retest reliability were evaluated. Internal consistency was determined using Cronbach's alpha coefficient, test-retest reliability by means of interclass correlation, and paired samples using the Wilcoxon W-test. The study was approved by the ethics and research committees at each participating centre., Results: The study assessed 30 children (46.7% female) with an average age of 13.33 ± 2.98 years; mean age at onset was 5.70 ± 3.62 years, and the mean disease duration was 7.63 ± 4.36 years. The mean score on the PAID-Peds survey was 42.88 ± 17.85. Cronbach's alpha coefficient was 0.90. Test-retest reliability measured by interclass correlation coefficient was 0.8 (95% CI: 0.63-0.90). No significant differences in total scores were found between test and retest (Wilcoxon W-test: 289; p = 0.051)., Conclusions: The Spanish version of the PAID-Peds survey is a feasible, valid, and reliable instrument to assess the youth-perceived burden of T1DM., (© 2023. The Author(s).)

Aims: Residual beta cell function in type 1 diabetes (T1D) is associated with lower risk of complications. Autoantigen therapy with GAD-alum (Diamyd) given in 3 intralymphatic injections with oral vitamin D has shown promising results in persons with T1D carrying the human leukocyte antigen (HLA) DR3-DQ2 haplotype in the phase 2b trial DIAGNODE-2. We aimed to explore the efficacy of intralymphatic GAD-alum on blood glucose recorded by continuous glucose monitoring (CGM)., Methods: DIAGNODE-2 (NCT03345004) was a multicenter, randomized, placebo-controlled, double-blind trial of 109 recent-onset T1D patients aged 12 to 24 years with GAD65 antibodies and fasting C-peptide > 0.12 nmol/L, which randomized patients to 3 intralymphatic injections of 4 μg GAD-alum and oral vitamin D, or placebo. We report results for exploratory endpoints assessed by 14-day CGM at months 0, 6, and 15. Treatment arms were compared by mixed-effects models for repeated measures adjusting for baseline values., Results: We included 98 patients with CGM recordings of sufficient quality (DR3-DQ2-positive patients: 27 GAD-alum-treated and 15 placebo-treated). In DR3-DQ2-positive patients, percent of time in range (TIR, 3.9-10 mmol/L) declined less between baseline and month 15 in GAD-alum-treated compared with placebo-treated patients (-5.1% and -16.7%, respectively; P = 0.0075), with reduced time > 13.9 mmol/L (P = 0.0036), and significant benefits on the glucose management indicator (P = 0.0025). No differences were detected for hypoglycemia. GAD-alum compared to placebo lowered the increase in glycemic variability (standard deviation) observed in both groups (P = 0.0219). Change in C-peptide was correlated with the change in TIR., Conclusions: Intralymphatic GAD-alum improves glycemic control in recently diagnosed T1D patients carrying HLA DR3-DQ2., (© The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Objectives: Lockdown during the SARS-CoV-2 pandemic generated uncertainty regarding its effects on the control of type 1 diabetes (DM1). Our study aims to evaluate the influence of the pandemic on the control of paediatric patients with DM1., Methods: Longitudinal, retrospective, observational study in patients with DM1 attended between 15/10/2019 and 15/03/2020. Data were collected at that visit and at the three subsequent visits. The second was remote in 50% of cases. The variables analysed were: type of insulin therapy, time in range (TIR), time in hypoglycaemia (THypo), time in hyperglycaemia (THyper), coefficient of variation (CV), glycosylated haemoglobin, insulin requirements and anthropometric data., Results: 157 patients were recruited. At the post-lockdown visit, the TIR increased and the THyper decreased with respect to the first (p<0.00) and second (p<0.00) visits. Patients treated with subcutaneous infusion showed a higher TIR at the third visit (p=0.03) and lower insulin requirements at the fourth visit (p=0.03) compared to patients treated with multiple doses. Patients with a remote visit presented a higher TIR (p<0.00), a lower THyper (p=0.00) and lower insulin requirements (p=0.01) at the next visit. Patients aged less than 6 years presented a lower glycosylated haemoglobin (p=0.01) and insulin requirements at the third (p=0.03) and fourth (p=0.01) visits, and a lower increase in body mass index (p=0.03) over the year., Conclusions: Metabolic control improved at the post-lockdown visit. Patients treated with subcutaneous infusion, those who had a remote visit during strict lockdown and those aged less than 6 years had a better evolution., (© 2022 Walter de Gruyter GmbH, Berlin/Boston.)

Introduction: Short stature is the most frequent reason for consultation in Pediatric Endocrinology consultations and sometimes requires treatment with growth hormone. The aim of the study was to analyze the response to treatment based on its onset in pubertal or prepubertal stages and to analyze the possible benefit of an early onset., Patients and Methods: Longitudinal, retrospective and observational study in 139 patients treated for idiopathic growth hormone deficiency up to adult height., Main Variables Studied: (a) genetic background: maternal, paternal and genetic height; (b) perinatal history; (c) anthropometry during follow-up and at pubertal onset: weight, height, body mass index; (d) variables during follow-up and at pubertal onset: growth rate, bone age and growth prognosis. Final response variables: adult height, adult height with respect to target height, adult height with respect to initial growth prediction, adult height with respect to initial height at the start of treatment and adult height with respect to height at pubertal onset., Results: Total pubertal gain was 0.84 ± 0.6 SD. 61.9% of the patients started treatment with rhGH in prepuberty. The initiation of treatment in the prepubertal stage and a higher total pubertal gain are correlated with a better final height (P = 0.001 and r = 0.507, P = 0.00, respectively). Furthermore, a longer duration of treatment in pre-puberty is correlated with a better final response (r = 0.328, P = 0.00)., Conclusions: The start of treatment in the prepubertal stage and its longer duration during this period are determining factors to achieve a good long-term response. Total pubertal gain was greater in patients who started treatment in the pubertal stage., (Copyright © 2022 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.)

Background and Aims: Post-prandial glucose control is essential to achieve metabolic goals in patients with type 1 diabetes mellitus (T1DM). The new "faster aspart" insulin has a pharmacological profile noted for its faster absorption and onset of action, and increased early availability, resulting in improved blood glucose control after meals. The main objective of the study was to analyse the efficacy of "faster aspart" vs. "insulin aspart" in children and adolescents with DM1 on sensor-augmented pump treatment., Patients and Methods: Multicentre, longitudinal and prospective analytical trial evaluating the use of faster aspart insulin for three months in children with T1DM with MiniMed640G® sensor-augmented pumps previously treated with aspart insulin. At the beginning and end of the study the following variables were analysed for subsequent comparison: mean sensor glucose, percentage of time in range, hypoglycaemia and hyperglycaemia, area under the curve (AUC) <70 and >180 mg/dL, mean sensor glucose pre- and postprandial in main meals, daily insulin requirements, basal/bolus percentage, and HbA1c. Acute complications, adverse events and satisfaction survey were assessed., Results: The study included 32 patients with a mean of 13.49 ± 2.42 years of age and with T1DM of 7.0 ± 3.67 years of onset. The use of faster aspart was associated with lower time in hyperglycaemia >180 mg/dL (25.8 ± 11.3 vs. 22.4 ± 9.5; p = .011) and >250 mg/dL (5.2±4.9 vs. 4.0 ± 3.6; p = .04), lower AUC >180 mg/dL (10.8 ± 6.5 vs. 9.3 ± 6.1; p = .03), and increased time in range (71.4 ± 10.0 vs. 74.3 ± 9.2; p = .03). No significant changes in hypoglycaemia, HbA1c, insulin requirements, and basal/bolus percentages were detected. Faster aspart was safe and well-evaluated by patients and caregivers., Conclusions: Faster aspart achieves better glycaemic control by increasing glucose time in range in children and adolescents with T1DM on treatment with sensor-augmented pumps., (Copyright © 2021 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.)

Introduction: Short stature is the most frequent reason for Pediatric Endocrinology consultations and sometimes requires treatment with growth hormone., Objective: The possible correlation of a good response to any early response factor with a better final response was studied, and also whether there was a difference in response to treatment according to the type of deficit., Patients and Methods: This was a longitudinal, retrospective and observational study of 139 patients treated for idiopathic growth hormone deficiency up to adult height. There were good response criteria in the first year of treatment: a) an increase in growth rate ≥3 cm/year, b) a growth rate ≥1 standard deviation (SD), c) an increase in height ≥0.5 SD, d) an increase in height ≥0.3 SD. Study of the Index of Responsiveness to treatment in the first and second year. Final response variables: adult height with respect to target height, adult height with respect to initial growth prediction and adult height with respect to initial height at the start of treatment. The possible correlation of a good response to any of the early response factors with a better final response to treatment was studied, and also whether there was a difference in the response to treatment according to the type of deficit., Results: The treatment produced a gain in adult height with respect to genetic height of 0.06 ± 0.7 SD. Patients considered good responders in the first year of treatment presented a better final response (growth rate ≥3 cm: p = 0.000, growth rate ≥1 SD: p = 0.008, height gain ≥0.5 SD: p = 0.007, height gain ≥0.3 SD: p = 0.006), as well as patients with a severe deficit (p = 0.04). The index of responsiveness to treatment during the first year was associated with a better final response (r = 0.249, p = 0.003), with this correlation being maintained in the second year (r = 0.294, p = 0.01)., Conclusions: Growth hormone treatment increased height in the genetic target. The percentage of good responders varied depending on the criteria used. The response in the first year of treatment and a severe deficit were determining factors for achieving a good long-term response., (Copyright © 2021. Published by Elsevier España, S.L.U.)

Introduction: Short stature is the most frequent reason for consultation in Pediatric Endocrinology consultations and sometimes requires treatment with growth hormone. The aim of the study was to analyze the response to treatment based on its onset in pubertal or prepubertal stages and to analyze the possible benefit of an early onset., Patients and Methods: Longitudinal, retrospective and observational study in 139 patients treated for idiopathic growth hormone deficiency up to adult height., Main Variables Studied: (a) genetic background: maternal, paternal and genetic height; (b) perinatal history; (c) anthropometry during follow-up and at pubertal onset: weight, height, body mass index; (d) variables during follow-up and at pubertal onset: growth rate, bone age and growth prognosis. Final response variables: adult height, adult height with respect to target height, adult height with respect to initial growth prediction, adult height with respect to initial height at the start of treatment and adult height with respect to height at pubertal onset., Results: Total pubertal gain was 0.84±0.6 SD. 61.9% of the patients started treatment with rhGH in prepuberty. The initiation of treatment in the prepubertal stage and a higher total pubertal gain are correlated with a better final height (P=.001 and r=0.507, P=.00, respectively). Furthermore, a longer duration of treatment in pre-puberty is correlated with a better final response (r=0.328, P=.00)., Conclusions: The start of treatment in the prepubertal stage and its longer duration during this period are determining factors to achieve a good long-term response. Total pubertal gain was greater in patients who started treatment in the pubertal stage., (Copyright © 2021. Publicado por Elsevier España, S.L.U.)

Introduction: Type 1 diabetes mellitus (DM-1) is one of the most common chronic childhood diseases, and it is essential to optimize glycemic control in order to avoid complications. For years, interstitial glucose measurement systems (MGI systems) have been among the new technologies at the forefront of self-care., Objectives: To determine the impact on the well-being of the caregivers of patients with type 1 diabetes mellitus under 18 years of age, controlled at a Pediatric Diabetes Unit of a third level hospital, of the use of MGI systems., Material and Methods: This was an observational, descriptive and analytical cohort study based on a questionnaire completed by the patients' caregivers, as well as from the patient's clinical history., Results: There were 120 participants (55.5% males), with a mean age 13.20+/-3.71 years and mean glycosylated haemoglobin (HbA1c) 7.36%+/-0.90. 52.5% of the sample used MGI systems. The caregivers of patients using MGI systems showed significantly higher scores (p<.05) regarding well-being, compared to the caregivers of patients not using this technology. In the former, a significant improvement (p<.05) in these variables with respect to the values prior to the beginning of their use was observed., Conclusions: The use of MGI systems for diabetes self-management in our study led to a greater sense of well-being on the part of caregivers compared with before their introduction, as well as in comparison with those who continued to perform measurements using daily capillary glycemias., (Copyright © 2020 SEEN y SED. Publicado por Elsevier España, S.L.U. All rights reserved.)

Background and Aims: Post-prandial glucose control is essential to achieve metabolic goals in patients with type 1 diabetes mellitus (T1DM). The new «faster aspart» insulin has a pharmacological profile noted for its faster absorption and onset of action, and increased early availability, resulting in improved blood glucose control after meals. The main objective of the study was to analyse the efficacy of «faster aspart» vs. «insulin aspart» in children and adolescents with DM1 on sensor-augmented pump treatment., Patients and Methods: Multicentre, longitudinal and prospective analytical trial evaluating the use of faster aspart insulin for three months in children with T1DM with MiniMed640G® sensor-augmented pumps previously treated with aspart insulin. At the beginning and end of the study the following variables were analysed for subsequent comparison: mean sensor glucose, percentage of time in range, hypoglycaemia and hyperglycaemia, area under the curve (AUC) < 70 and > 180 mg/dL, mean sensor glucose pre and postprandial in main meals, daily insulin requirements, basal/bolus percentage, and HbA1c. Acute complications, adverse events and satisfaction survey were assessed., Results: The study included 31 patients with a mean of 13.49 ± 2.42 years of age and with T1DM of 7.0 ± 3.67 years of onset. The use of faster aspart was associated with lower time in hyperglycaemia > 180 mg/dL (25.8 ± 11.3 vs. 22.4 ± 9.5; p = 0.011) and > 250 mg/dL (5.2 ± 4.9 vs. 4.0 ± 3.6; p = 0.04), lower AUC > 180 mg/dL (10.8 ± 6.5 vs. 9.3 ± 6.1; p = 0.03), and increased time in range (71.4 ± 10.0 vs. 74.3 ± 9.2; p = 0.03). No significant changes in hypoglycaemia, HbA1c, insulin requirements, and basal/bolus percentages were detected. Faster aspart was safe and well-evaluated by patients and caregivers., Conclusions: Faster aspart achieves better glycaemic control by increasing glucose time in range in children and adolescents with T1DM on treatment with sensor-augmented pumps., (Copyright © 2020. Publicado por Elsevier España, S.L.U.)

Background and Objective: Recombinant human growth hormone (rhGH) treatment in small for gestational age (SGA) children has been effective, although there is significant variability in the response. Adult height and the factors that determine the long-term response are evaluated., Patients and Design: A retrospective study of 80 patients born SGA with short stature treated with rhGH and followed until adult height (23 males)., Results: The group starting treatment pre-puberty reached a higher Adult height (-1.4±0.6 vs. -1.9±.6 in pubertal children), the highest final height gain was achieved in those treated for at least 2years prepuberty (1.32±.5 SDS). Factors associated with greater adult height gain were: a) less height, weight and BMI at start of treatment, b) lower chronological and bone age with lower IGF-I before treatment, c) greater distance to target height, d) higher growth velocity the first and second year of treatment, and higher height gain before and during puberty. The percentage of patients with good response in the first year ranged from 46.6% to 81.6% depending on the criteria. Growth velocity increase ≥3cm/ first year correlated best with long-term response., Conclusion: rhGH treatment in children born SGA produced a varying increase in adult height that allowed them to reach their adult height. The best results occurred in the prepubertal group and did not depend on pituitary GH response., (Copyright © 2019 Elsevier España, S.L.U. All rights reserved.)

X-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. The clinical spectrum is characterized by progressive neurological dysfunction and adrenal insufficiency with a devastating prognosis. We report a first case of X-linked adrenoleukodystrophy with fatal evolution which identified two asymptomatic family members and established a preventive treatment. Although there is no definitive cure, we stress the importance of family study and evaluation of the individual in situation of risk to establish an early preventive treatment and to give in each particular situation suitable professional advice., (Sociedad Argentina de Pediatría.)

Objective: The evaluation of clinical and analytical parameters as predictors of the final growth response in Turner syndrome patients treated with growth hormone., Material and Methods: A retrospective study was performed on 25 girls with Turner syndrome (17 treated with growth hormone), followed-up until adult height. Auxological, analytical, genetic and pharmacological parameters were collected. A descriptive and analytical study was conducted to evaluate short (12 months) and long term response to treatment with growth hormone., Results: A favourable treatment response was shown during the first year of treatment in terms of height velocity gain in 66.6% of cases (height-gain velocity >3cm/year). A favourable long-term treatment response was also observed in terms of adult height, which increased by 42.82±21.23cm (1.25±0.76 SDS), with an adult height gain of 9.59±5.39cm (1.68±1.51 SDS)., Conclusions: Predictors of good response to growth hormone treatment are: A) initial growth hormone dose, B) time on growth hormone treatment until starting oestrogen therapy, C) increased IGF1 and IGFBP-3 levels in the first year of treatment, and D) height gain velocity in the first year of treatment., (Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.)

Hypothalamic hamartomas are benign tumors of gray substance composed by hyperplasic neurons. They are usually asymptomatic small masses with extensions into the third ventricular cavity. In some instances they can cause cognitive behavioral alterations, seizures and/or central precocious puberty depending on the location. Here we present two cases of central precocious puberty due to hypothalamic hamartomas at 2(8/12) and 7 years of age. The younger patient also presents gelastic seizures, typically associated with hypothalamic hamartomas. After the clinical and radiological findings, they started treatment with GnRH analogues and a regression of the puberty signs without progression in the hamartomas size was observed.

Polyglandular autoimmune syndromes are rare diseases based on autoimmune mechanisms in which endocrine and non-endocrine disorders coexist. In type 1 the characteristic manifestations are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. A case is presented of a patient with typical clinical sequence, along with other changes, and in whom a mutation in homozygosis, C322fsX372, was detected after performing a molecular analysis of autoimmunity regulator gene (AIRE). Inheritance is autosomal recessive, associated with mutations in the AIRE gene, which encodes a protein involved in autoimmunity and immunodeficiency. For diagnosis, At least two of the three major clinical manifestations are required for a diagnosis. However, only one of them is necessary in the study of relatives of affected patients. These syndromes must be diagnosed early, given their high morbidity and mortality. Every manifestation needs to be treated, in order to maintain the quality of life., (Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)

Osteopetrosis (OP) is a congenital bone disease which is caused by a functional disorder in osteoclasts with inability for normal bone resorption, leading to increased bone mineral density and bone sclerosis. It can be classified into different groups according to their clinical and their genetic characteristics: autosomal recessive with several subtypes (OPTB) or autosomal dominant type 1 or 2 (OPTA1-2). There is a wide clinical variability of the disease, from asymptomatic to lethal in the first months of life, with variable expressivity in the family members. Diagnosis is mainly clinical with genetic confirmation of the OP, and treatment is symptomatic. Three cases of OP are presented, with the discovery of a new gene mutation in LRP5 which caused OPTA1 in one of them., (Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)

Klinefelter Syndrome is the most frequent cause of hypergonadotropic hypogonadism in men. A flat response at luteinizing hormone releasing hormone stimulation test could be the first sign of hypothalamic tumor in these patients. We report the case of a patient diagnosed by neonatal screening with Klinefelter Syndrome, 47 XXY, that at 17 years follow-up presents analytical modification of the response to luteinizing hormone releasing hormone stimulation test with suppressed luteinizing hormone and follicle-stimulating hormone values; lately he presents with headache and loss of left eye vision. A magnetic resonance imaging of the brain showed a mixed germ cell hypothalamus tumor, requiring surgery, chemotherapy and radiotherapy with optimal response.

Cerebral giantism or Sotos syndrome consists of a pre- and postnatal overgrowth whose genetic basis are mutations and deletions of the nuclear receptor-binding SET domain containing protein gene. These patients have an increased risk of developing neoplasms, especially in adulthood. We report a 9-year-old boy, diagnosed with familial Sotos syndrome, who had two pilomatrixoma, symmetrically located on both sides of the neck, measuring 4 cm in diameter. Genetic study of the tumor tissue showed deletion of exon 22 of the NSD1 gene, whereas beta-catenin gene mutations were not detected. To the best of our knowledge, presentation of multiple pilomatricomas with Sotos syndrome has never been reported. Therefore their association probably is incidental. Nevertheless, the unusual size of our patient's pilomatricomas could be due to deletion of the NSD1 gene, which characterizes Sotos syndrome.

Introduction and Objective: Torticollis is a very non-specific symptom occurring in different conditions and may therefore be the reason for consultation in many specialties including neuropaediatrics. Analysis of torticollis as a cause for consultation in neuropaediatrics may contribute to the establishment of a suitable strategy for diagnosis., Patients and Methods: We review, from the diagnostic point of view, the clinical histories of cases in which the reasons for consultation included torticollis. These cases were included in the database of all the patients assessed by the neuropaediatric department of the Hospital Miguel Servet in Zaragoza between May 1990 and February 1999., Results: Of the 4,138 new patients evaluated during the period studied, in 60 patients torticollis was either the sole symptom or was one of the symptoms leading to consultation. The diagnoses established were: 30 congenital torticollis (50%), 6 secondary to space-occupying intracranial lesions (10%), 5 benign paroxystic torticollis (8.3%), 4 post-traumatic, 3 secondary to ocular disorders, 3 Sandifer syndrome, 1 focal dystonia of the neck, 1 secondary to a submandibular adeno-phlegmon, 1 secondary to an epidural hematoma of the cervical spine, 1 to encephalomyelitis and 1 to spondylodiscitis, with 4 cases unclassified., Conclusions: The clinical history, physical examination and follow-up of the course of the disorder orientate or permit the diagnosis to be established in many cases of torticollis. The indications for complementary investigations, particularly neuroimaging, should be considered individually in each case.

Introduction: Hemimegalencephaly is a disorder of neurone proliferation and migration, associated with excessive growth of all or part of one cerebral hemisphere, and variable degrees of pachygyria, polymicrogyria, neuronal heterotopy and gliosis of white matter. It is considered to be a rare malformation with severe encephalopathy, epilepsy resistant to treatment started early, contralateral hemiparesia and severe retardation of development. However, there may also be milder forms. The syndrome of pathological left handedness is associated with disorders of language, visuo-spatial changes and weakness and hypertrophy of the right limbs, with no family history of left handedness. It occurs in lesions predominantly of the left hemisphere which have occurred in the first six years of life., Clinical Case: A 12 year old girl presented with a syndrome of pathological left-handedness and craniofacial asymmetry of the left hemisphere. MR showed the left ventricle and hemisphere to be of increased size and with focal hyperintensity in the white matter, and at the level of the left parietotemporoccipital region there was a thick cortex with little interdigitation of white and grey matter., Conclusions: Minor forms of hemimegalencephaly are probably more frequent than is generally believed. A high index of suspicion is necessary to identify them. They should be considered in cases of left handedness, craniofacial or bodily asymmetry, cutaneous hamartomas, persistent electroencephalographic asymmetry and asymmetry on neuroimaging with an enlarged ventricle and homolateral hemisphere. Study of this may give information which is useful for understanding plasticity and mechanisms of recovery and functional compensation of immature nerve tissue.

Benign rheumatoid nodules are subcutaneous nodules morphologically and histologically identical to the ones appearing in patients with rheumatoid arthritis. They usually happen in healthy people without neither clinical nor serologic manifestations of any rheumatic illness. These nodules are more usual in children and they are considered exceptional beyond the age of eighteen. In the literature, only two hundred cases in children and twenty five cases in adults have been properly documented, with histological confirmation. We report four new cases of benign rheumatoid nodules histologically proved, two children and two adults, and we confirm the optimistic prognosis of these patients.